Variant report

Variant	rs2216107
Chromosome Location	chr7:104656042-104656043
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	POLR2A	chr7:104652105-104656301	SK-N-MC	brain:	n/a	n/a
2	RUNX3	chr7:104655917-104656382	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:104649871-104658724	K562	blood:	n/a	n/a
4	POLR2A	chr7:104651678-104656471	K562	blood:	n/a	n/a
5	RCOR1	chr7:104655178-104656753	Hela-S3	cervix:	n/a	n/a
6	TEAD4	chr7:104652432-104656297	K562	blood:	n/a	n/a
7	POLR2A	chr7:104652470-104656276	K562	blood:	n/a	n/a
8	POLR2A	chr7:104651748-104656064	Hela-S3	cervix:	n/a	n/a
9	UBTF	chr7:104652228-104656365	K562	blood:	n/a	n/a
10	POLR2A	chr7:104655969-104656361	U87	brain:	n/a	n/a
11	PML	chr7:104652315-104656342	K562	blood:	n/a	n/a
12	RAD21	chr7:104656001-104656307	SK-N-SH_RA	brain:	n/a	n/a
13	PML	chr7:104651615-104656402	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:104651574-104656388	PBDE	blood:	n/a	n/a
15	MAFK	chr7:104655081-104656628	K562	blood:	n/a	n/a
16	TAF1	chr7:104655969-104656304	K562	blood:	n/a	n/a
17	MXI1	chr7:104651669-104656716	GM12878	blood:	n/a	n/a
18	HCFC1	chr7:104652705-104656343	K562	blood:	n/a	n/a
19	POLR2A	chr7:104655063-104656431	SK-N-SH	brain:	n/a	n/a
20	TEAD4	chr7:104652582-104657299	K562	blood:	n/a	n/a
21	EP300	chr7:104655288-104656375	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:104650139-104656413	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:104652691-104656260	K562	blood:	n/a	chr7:104653528-104653544
24	YY1	chr7:104655887-104656296	H1-hESC	embryonic stem cell:	n/a	chr7:104656116-104656126 chr7:104656104-104656126 chr7:104656116-104656126 chr7:104656110-104656127 chr7:104656114-104656126 chr7:104656111-104656127
25	REST	chr7:104652823-104656407	H1-neurons	neurons:	n/a	chr7:104655971-104655980 chr7:104655344-104655354 chr7:104653526-104653539
26	YY1	chr7:104652716-104656695	SK-N-SH	brain:	n/a	chr7:104654514-104654536 chr7:104656116-104656126 chr7:104654525-104654533 chr7:104656104-104656126 chr7:104656116-104656126 chr7:104653271-104653290 chr7:104654518-104654538 chr7:104653270-104653290 chr7:104656110-104656127 chr7:104654519-104654538 chr7:104653167-104653178 chr7:104656114-104656126 chr7:104653273-104653295 chr7:104654636-104654653 chr7:104653276-104653284 chr7:104656111-104656127
27	JUND	chr7:104650542-104656365	SK-N-SH	brain:	n/a	chr7:104654505-104654514 chr7:104653596-104653605
28	TCF12	chr7:104652171-104656132	A549	lung:	n/a	n/a
29	MXI1	chr7:104655237-104657147	K562	blood:	n/a	n/a
30	CCNT2	chr7:104652467-104656501	K562	blood:	n/a	chr7:104653164-104653173 chr7:104654549-104654558 chr7:104653075-104653084 chr7:104655023-104655032
31	YY1	chr7:104655309-104656352	ECC-1	luminal epithelium:	n/a	chr7:104656116-104656126 chr7:104656104-104656126 chr7:104656116-104656126 chr7:104656110-104656127 chr7:104656114-104656126 chr7:104656111-104656127
32	REST	chr7:104652414-104658680	H1-neurons	neurons:	n/a	chr7:104655971-104655980 chr7:104655344-104655354 chr7:104653526-104653539
33	ZNF384	chr7:104655470-104656573	K562	blood:	n/a	n/a
34	ZNF143	chr7:104652567-104656152	K562	blood:	n/a	chr7:104653632-104653650
35	CHD1	chr7:104650715-104657296	GM12878	blood:	n/a	n/a
36	YY1	chr7:104655933-104656325	GM12891	blood:	n/a	chr7:104656116-104656126 chr7:104656104-104656126 chr7:104656116-104656126 chr7:104656110-104656127 chr7:104656114-104656126 chr7:104656111-104656127
37	SIN3AK20	chr7:104652669-104656403	SK-N-SH	brain:	n/a	n/a
38	STAT1	chr7:104652800-104656185	K562	blood:	n/a	chr7:104653683-104653703 chr7:104653165-104653177 chr7:104654544-104654556 chr7:104653837-104653849 chr7:104655761-104655773 chr7:104653618-104653630
39	POLR2A	chr7:104650238-104656311	GM12891	blood:	n/a	n/a
40	CHD2	chr7:104655493-104656056	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3AK20	chr7:104652544-104656550	MCF-7	breast:	n/a	n/a
42	MAFF	chr7:104655209-104657056	K562	blood:	n/a	n/a
43	POLR2A	chr7:104651581-104656303	GM19099	blood:	n/a	n/a
44	ZNF263	chr7:104655183-104656354	HEK293-T-REx	kidney:	n/a	chr7:104655597-104655606
45	WRNIP1	chr7:104652263-104656307	GM12878	blood:	n/a	n/a
46	GTF2B	chr7:104655297-104656456	K562	blood:	n/a	n/a
47	MYC	chr7:104652632-104656703	K562	blood:	n/a	chr7:104654996-104655005
48	MAZ	chr7:104652233-104656436	IMR90	lung:	n/a	chr7:104654996-104655005
49	MTA3	chr7:104652201-104656342	GM12878	blood:	n/a	n/a
50	ZMIZ1	chr7:104652652-104656354	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:104653228..104656123-chr7:104741244..104743296,2	K562	blood:
2	chr14:74226432..74228146-chr7:104653280..104656044,2	MCF-7	breast:
3	chr17:56708298..56711136-chr7:104654170..104656051,2	MCF-7	breast:
4	chr1:16839394..16842098-chr7:104653560..104656076,2	K562	blood:
5	chr7:104650546..104656206-chr7:104695535..104706992,23	K562	blood:
6	chr7:104561816..104567252-chr7:104650571..104656074,9	K562	blood:
7	chr7:104647926..104656528-chr7:104691112..104706949,31	K562	blood:
8	chr7:104649592..104657753-chr7:104694428..104703365,16	MCF-7	breast:

Variant related genes	Relation type
LINC01004	TF binding region
KMT2E-AS1	TF binding region
ENSG00000156030	Chromatin interaction
ENSG00000225329	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000261135	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1013016	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1019040	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10224526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10231782	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10231975	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10241374	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10242713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10244764	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10245589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10245676	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10245796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10249746	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10249965	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10253962	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10260346	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10261472	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10261573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10264273	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10268866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10269027	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap]
rs10274607	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10276583	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10279486	0.86[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10279602	0.92[EUR][1000 genomes]
rs10280009	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10280470	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs10280752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10808139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10808140	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10953464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10953466	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10953467	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11971732	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11973516	0.93[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes]
rs11976329	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11981399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12171585	0.82[EUR][1000 genomes]
rs12531424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12532062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12532456	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12534140	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12540007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12667625	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12671368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12705297	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12705299	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13230660	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13237370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1859786	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1978201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2011258	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2058711	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2214928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2237602	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2237604	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2237605	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2237606	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2237610	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2240453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2240454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2240455	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2240457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2240465	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2285532	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2299297	0.81[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap]
rs2299299	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2385542	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28434158	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28489493	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2891761	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3173872	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3213676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3213741	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34202980	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34558707	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35418021	0.86[ASN][1000 genomes]
rs35780942	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3735377	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3815256	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs4730065	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4730067	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4730068	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4730069	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4730071	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.82[YRI][hapmap]
rs6466045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs67739707	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6971241	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6972229	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71562633	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs740297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7780887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7785197	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7800233	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7805792	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7808168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7810119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7811349	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs875567	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs875568	0.93[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs916704	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs960437	0.93[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9641340	0.82[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9641341	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs999895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104648600-104658800	Active TSS	Ovary	ovary
2	chr7:104649000-104657400	Active TSS	Colonic Mucosa	Colon
3	chr7:104649200-104659000	Active TSS	Right Ventricle	heart
4	chr7:104649400-104656800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:104649400-104658800	Active TSS	Aorta	Aorta
6	chr7:104649400-104659400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr7:104649600-104657000	Active TSS	Colon Smooth Muscle	Colon
8	chr7:104649600-104658600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:104649600-104658800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:104649600-104659600	Active TSS	NHLF	lung
11	chr7:104649800-104656400	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr7:104649800-104657000	Active TSS	NHEK	skin
13	chr7:104649800-104657600	Active TSS	Fetal Stomach	stomach
14	chr7:104649800-104657600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:104649800-104658200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:104649800-104658600	Active TSS	Left Ventricle	heart
17	chr7:104650000-104657200	Active TSS	Fetal Intestine Large	intestine
18	chr7:104650000-104658000	Active TSS	Duodenum Mucosa	Duodenum
19	chr7:104650000-104658600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:104650000-104658600	Active TSS	Psoas Muscle	Psoas
21	chr7:104650200-104656200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:104650200-104658000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:104650400-104657400	Active TSS	Fetal Intestine Small	intestine
24	chr7:104650400-104657800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr7:104650600-104656400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr7:104650600-104656600	Active TSS	Fetal Muscle Trunk	muscle
27	chr7:104650600-104658800	Active TSS	Primary T cells fromperipheralblood	blood
28	chr7:104650800-104656400	Active TSS	Placenta	Placenta
29	chr7:104650800-104656600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr7:104650800-104657000	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr7:104650800-104657600	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr7:104650800-104660800	Active TSS	GM12878-XiMat	blood
33	chr7:104651000-104656200	Active TSS	Lung	lung
34	chr7:104651000-104656400	Active TSS	Esophagus	oesophagus
35	chr7:104651000-104656600	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr7:104651000-104656600	Active TSS	Placenta Amnion	Placenta Amnion
37	chr7:104651000-104657200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:104651000-104657200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:104651000-104657400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:104651000-104657400	Active TSS	Thymus	Thymus
41	chr7:104651000-104657600	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr7:104651000-104658000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:104651000-104658200	Active TSS	HSMMtube	muscle
44	chr7:104651000-104658400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:104651000-104660000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:104651200-104656400	Active TSS	HUVEC	blood vessel
47	chr7:104651200-104656600	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr7:104651200-104657400	Active TSS	HMEC	breast
49	chr7:104651200-104657600	Active TSS	Brain Angular Gyrus	brain
50	chr7:104651200-104657600	Active TSS	Brain Anterior Caudate	brain

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