Variant report

Variant	rs2223463
Chromosome Location	chr6:27356193-27356194
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr6:27356096-27357080	H1-hESC	embryonic stem cell:	n/a	n/a
2	HCFC1	chr6:27355949-27357120	Hela-S3	cervix:	n/a	n/a
3	ZBTB7A	chr6:27356140-27357034	K562	blood:	n/a	n/a
4	SIN3A	chr6:27356193-27357095	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr6:27355707-27357130	NB4	blood:	n/a	chr6:27356374-27356384 chr6:27356973-27356982
6	MYC	chr6:27356113-27357175	NB4	blood:	n/a	chr6:27356374-27356384 chr6:27356973-27356982
7	NRF1	chr6:27356070-27357403	SK-N-SH	brain:	n/a	chr6:27356879-27356886 chr6:27356491-27356505 chr6:27356491-27356502 chr6:27356490-27356501
8	TAF1	chr6:27356078-27356992	H1-neurons	neurons:	n/a	n/a
9	CEBPB	chr6:27355943-27356733	K562	blood:	n/a	chr6:27356124-27356135 chr6:27356433-27356444 chr6:27355981-27355990 chr6:27356126-27356135
10	CEBPB	chr6:27355966-27356808	Hela-S3	cervix:	n/a	chr6:27356124-27356135 chr6:27356433-27356444 chr6:27355981-27355990 chr6:27356126-27356135
11	CEBPB	chr6:27355931-27356309	MCF-7	breast:	n/a	chr6:27356124-27356135 chr6:27355981-27355990 chr6:27356126-27356135
12	CEBPB	chr6:27355900-27356769	HepG2	liver:	n/a	chr6:27356124-27356135 chr6:27356433-27356444 chr6:27355981-27355990 chr6:27356126-27356135
13	STAT5A	chr6:27356138-27357057	GM12878	blood:	n/a	n/a
14	MAX	chr6:27356168-27356973	SK-N-SH	brain:	n/a	chr6:27356374-27356384
15	POLR2A	chr6:27356035-27357100	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr6:27356169-27357064	NB4	blood:	n/a	n/a
17	CEBPB	chr6:27355921-27357031	A549	lung:	n/a	chr6:27356124-27356135 chr6:27356433-27356444 chr6:27355981-27355990 chr6:27356126-27356135
18	SP4	chr6:27356158-27356933	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr6:27355860-27356747	IMR90	lung:	n/a	chr6:27356124-27356135 chr6:27356433-27356444 chr6:27355981-27355990 chr6:27356126-27356135
20	RCOR1	chr6:27356127-27356926	K562	blood:	n/a	n/a
21	JUND	chr6:27356033-27356836	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr6:27356121-27356806	HepG2	liver:	n/a	n/a
23	PML	chr6:27356192-27357166	GM12878	blood:	n/a	n/a
24	PML	chr6:27356132-27357050	K562	blood:	n/a	n/a
25	TEAD4	chr6:27356117-27356869	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr6:27356096-27357188	K562	blood:	n/a	chr6:27356374-27356384 chr6:27356973-27356982
27	CEBPB	chr6:27355968-27356744	A549	lung:	n/a	chr6:27356124-27356135 chr6:27356433-27356444 chr6:27355981-27355990 chr6:27356126-27356135
28	KAP1	chr6:27356106-27356919	U2OS	brain:	n/a	n/a
29	POLR2A	chr6:27356158-27357009	SK-N-SH	brain:	n/a	n/a
30	ZBTB7A	chr6:27355986-27357167	ECC-1	luminal epithelium:	n/a	n/a
31	CEBPB	chr6:27355805-27356909	ECC-1	luminal epithelium:	n/a	chr6:27356124-27356135 chr6:27356433-27356444 chr6:27355981-27355990 chr6:27356126-27356135
32	RAD21	chr6:27356118-27356928	H1-hESC	embryonic stem cell:	n/a	chr6:27356420-27356430
33	TCF12	chr6:27356182-27357015	A549	lung:	n/a	n/a
34	POLR2A	chr6:27356157-27357036	PFSK-1	brain:	n/a	n/a
35	CEBPB	chr6:27355927-27356905	K562	blood:	n/a	chr6:27356124-27356135 chr6:27356433-27356444 chr6:27355981-27355990 chr6:27356126-27356135
36	TEAD4	chr6:27356186-27356961	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr6:27356137-27357122	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr6:27356027-27357237	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr6:27356186-27357143	HL-60	blood:	n/a	n/a
40	CEBPB	chr6:27355827-27356877	H1-hESC	embryonic stem cell:	n/a	chr6:27356124-27356135 chr6:27356433-27356444 chr6:27355981-27355990 chr6:27356126-27356135
41	REST	chr6:27355990-27357224	H1-neurons	neurons:	n/a	chr6:27356858-27356878
42	SP4	chr6:27356111-27357004	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr6:27356176-27357030	SK-N-MC	brain:	n/a	n/a
44	TEAD4	chr6:27356062-27357019	K562	blood:	n/a	n/a
45	MAX	chr6:27356154-27357167	HepG2	liver:	n/a	chr6:27356374-27356384 chr6:27356973-27356982
46	POLR2A	chr6:27356184-27356887	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr6:27356186-27357198	K562	blood:	n/a	n/a
48	POLR2A	chr6:27356131-27357122	H1-hESC	embryonic stem cell:	n/a	n/a
49	ZBTB7A	chr6:27356134-27357243	ECC-1	luminal epithelium:	n/a	n/a
50	TEAD4	chr6:27356193-27356883	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:27354651..27357206-chr6:27439212..27442131,3	K562	blood:
2	chr6:27341304..27343058-chr6:27356076..27357820,2	MCF-7	breast:
3	chr21:27542816..27543374-chr6:27355736..27356540,2	HCT-116	colon:
4	chr6:27342371..27343890-chr6:27355850..27358027,2	K562	blood:
5	chr6:27350962..27353140-chr6:27353482..27356207,2	MCF-7	breast:
6	chr6:27291445..27294642-chr6:27355178..27358043,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF184-3	chr6:27356046-27357004	NONHSAT108378

Variant related genes	Relation type
ZNF391	TF binding region
ENSG00000124613	Chromatin interaction
ENSG00000096654	Chromatin interaction
ENSG00000142192	Chromatin interaction
ENSG00000220758	Chromatin interaction
ENSG00000273492	Chromatin interaction

Extended variants
information (count: 237 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:232)

rs_ID	r²[population]
rs10080555	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10080558	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10080567	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10080569	0.93[CEU][hapmap];0.90[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10080571	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10080814	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1014227	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1022515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1022517	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1022518	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10484396	0.92[ASN][1000 genomes]
rs10484397	0.90[ASN][1000 genomes]
rs10484398	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs10755644	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10807020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10807021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10807022	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10807023	0.90[ASN][1000 genomes]
rs10807024	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10807025	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10946913	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10946914	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10946916	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10946917	0.92[ASN][1000 genomes]
rs10946918	0.94[ASN][1000 genomes]
rs10946919	0.81[ASN][1000 genomes]
rs10946920	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10946921	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10946931	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10946932	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10946933	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11966173	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11968825	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12195788	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197858	0.90[ASN][1000 genomes]
rs12199110	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12200018	0.90[ASN][1000 genomes]
rs12205189	0.94[ASN][1000 genomes]
rs12212288	0.94[ASN][1000 genomes]
rs12212293	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12213598	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12525255	0.96[ASN][1000 genomes]
rs12525266	0.94[ASN][1000 genomes]
rs12525544	0.94[ASN][1000 genomes]
rs12528904	0.94[ASN][1000 genomes]
rs12529840	0.92[ASN][1000 genomes]
rs12662076	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13201443	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs13201965	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs13201985	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs13207099	0.94[ASN][1000 genomes]
rs13215216	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13217798	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13220155	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1534936	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1534937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1569566	0.90[ASN][1000 genomes]
rs1883216	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1883402	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1883404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1883405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1963145	0.83[AMR][1000 genomes]
rs1985818	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1987278	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1989298	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1989299	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2015648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2049945	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2064219	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2076305	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2092121	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2092122	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2142705	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2143059	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2143060	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2143061	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143062	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2143063	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2179154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2179362	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2206250	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2206251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2206252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2206253	0.92[ASN][1000 genomes]
rs2206254	0.90[ASN][1000 genomes]
rs2223464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235252	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2235254	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2272814	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2294308	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2294309	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2393927	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2393928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393930	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2393931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893916	0.92[ASN][1000 genomes]
rs2893917	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs34185469	0.94[ASN][1000 genomes]
rs3734574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3734575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3918438	0.88[ASN][1000 genomes]
rs4128497	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4305708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4339442	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4358616	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4455661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4478400	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4504471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4516940	0.96[ASN][1000 genomes]
rs4562132	1.00[CEU][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4579353	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4711147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4711148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4711150	0.94[ASN][1000 genomes]
rs4711151	0.95[ASN][1000 genomes]
rs4711153	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4713084	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713085	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713088	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713089	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713090	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713093	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4713094	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713096	0.93[ASN][1000 genomes]
rs4713097	0.96[ASN][1000 genomes]
rs4713101	0.86[ASN][1000 genomes]
rs4713105	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4713106	0.94[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs55705181	0.88[ASN][1000 genomes]
rs57125518	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57647048	0.90[ASN][1000 genomes]
rs62401131	0.90[ASN][1000 genomes]
rs62401133	0.86[ASN][1000 genomes]
rs6456774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6456775	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6456776	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6456777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6456778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6456779	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6456781	0.94[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6456784	0.94[ASN][1000 genomes]
rs6456785	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6456788	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs6456790	0.88[CEU][hapmap]
rs6650992	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6899780	0.90[ASN][1000 genomes]
rs6899950	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6900278	0.84[ASN][1000 genomes]
rs6901629	0.95[ASN][1000 genomes]
rs6903254	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6904883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6908086	0.90[ASN][1000 genomes]
rs6908553	0.96[ASN][1000 genomes]
rs6912091	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6913122	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914542	0.90[ASN][1000 genomes]
rs6914585	0.90[ASN][1000 genomes]
rs6915934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6920010	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6920362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6920408	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6920733	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6921071	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6923108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6923539	0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6925606	0.94[ASN][1000 genomes]
rs6926142	0.92[ASN][1000 genomes]
rs6928314	0.94[ASN][1000 genomes]
rs6929812	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6934748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6934933	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6934985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6935116	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6935118	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6936356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936539	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936951	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6938943	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs726830	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs7509	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs760880	0.90[ASN][1000 genomes]
rs764460	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs766092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7738512	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7741031	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7744110	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7745380	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7747283	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7747444	0.92[ASN][1000 genomes]
rs7748366	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7750795	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7754086	0.94[ASN][1000 genomes]
rs7754411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754678	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7754724	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7754977	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7759001	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7761989	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7771598	0.94[ASN][1000 genomes]
rs7772160	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7774613	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9348765	0.83[JPT][hapmap]
rs9357035	0.88[ASN][1000 genomes]
rs9357037	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368503	0.81[JPT][hapmap]
rs9368504	0.88[ASN][1000 genomes]
rs9368505	0.90[ASN][1000 genomes]
rs9368508	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9461375	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9461378	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461379	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9468079	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9468100	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9468112	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468114	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9468117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9468121	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9468141	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs979352	0.90[ASN][1000 genomes]
rs979353	0.90[ASN][1000 genomes]
rs980960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs980961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs980962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs980963	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3439048	chr6:27351973-27357171	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
4	nsv1031803	chr6:27355881-27423655	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv538166	chr6:27355881-27423655	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2223463	ZNF391	cis	Artery Aorta	GTEx
rs2223463	ZNF391	Cis_1M	lymphoblastoid	RTeQTL
rs2223463	ZNF391	cis	Artery Tibial	GTEx
rs2223463	ZNF391	cis	Muscle Skeletal	GTEx
rs2223463	ZNF391	cis	Nerve Tibial	GTEx
rs2223463	ZNF391	cis	Heart Left Ventricle	GTEx
rs2223463	ZNF391	cis	Thyroid	GTEx
rs2223463	ZNF391	cis	Skin Sun Exposed Lower leg	GTEx
rs2223463	ZNF391	cis	lung	GTEx
rs2223463	ZNF391	cis	Esophagus Muscularis	GTEx
rs2223463	ZNF391	cis	Esophagus Mucosa	GTEx
rs2223463	ZNF391	cis	Adipose Subcutaneous	GTEx
rs2223463	ZNF391	cis	Whole Blood	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27343200-27356200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:27346800-27356200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:27355000-27357400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:27355600-27356200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:27355600-27357600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:27355600-27358400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:27355800-27356200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:27355800-27356200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:27355800-27356200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr6:27355800-27356200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr6:27355800-27356200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr6:27355800-27356200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:27355800-27356200	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr6:27355800-27356200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr6:27355800-27356200	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr6:27355800-27356200	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr6:27355800-27356200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr6:27355800-27356200	Enhancers	Fetal Thymus	thymus
19	chr6:27355800-27356200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:27355800-27356400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:27355800-27356400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:27355800-27356400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:27355800-27356400	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr6:27355800-27356400	Flanking Active TSS	Dnd41	blood
25	chr6:27355800-27356600	Active TSS	Fetal Muscle Trunk	muscle
26	chr6:27355800-27356800	Active TSS	Colonic Mucosa	Colon
27	chr6:27355800-27357000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:27355800-27357000	Active TSS	Brain Angular Gyrus	brain
29	chr6:27355800-27357000	Active TSS	HMEC	breast
30	chr6:27355800-27357200	Active TSS	Muscle Satellite Cultured Cells	--
31	chr6:27355800-27357200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:27355800-27357200	Active TSS	Aorta	Aorta
33	chr6:27355800-27357200	Active TSS	Brain Hippocampus Middle	brain
34	chr6:27355800-27357200	Active TSS	Fetal Brain Male	brain
35	chr6:27355800-27357200	Active TSS	Right Ventricle	heart
36	chr6:27355800-27357200	Active TSS	A549	lung
37	chr6:27355800-27357200	Flanking Active TSS	HUVEC	blood vessel
38	chr6:27355800-27357200	Active TSS	K562	blood
39	chr6:27355800-27357200	Active TSS	NHDF-Ad	bronchial
40	chr6:27355800-27357400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr6:27355800-27357400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:27355800-27357400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:27355800-27357400	Active TSS	Brain Cingulate Gyrus	brain
44	chr6:27355800-27357400	Active TSS	Fetal Brain Female	brain
45	chr6:27355800-27357400	Active TSS	Fetal Intestine Small	intestine
46	chr6:27355800-27357400	Active TSS	Rectal Smooth Muscle	rectum
47	chr6:27355800-27357400	Active TSS	NHLF	lung
48	chr6:27355800-27357600	Active TSS	H9 Cell Line	embryonic stem cell
49	chr6:27355800-27357600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:27355800-27357600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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