Variant report

Variant	rs2842612
Chromosome Location	chr6:86303091-86303092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:312)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:86302744-86304659	NB4	blood:	n/a	n/a
2	POLR2A	chr6:86302981-86304116	A549	lung:	n/a	n/a
3	MAX	chr6:86302689-86304235	HepG2	liver:	n/a	n/a
4	MYC	chr6:86303070-86304128	K562	blood:	n/a	n/a
5	POLR2A	chr6:86302803-86304254	H1-neurons	neurons:	n/a	n/a
6	TAF1	chr6:86303011-86304053	HepG2	liver:	n/a	n/a
7	TAF1	chr6:86302903-86304162	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr6:86302742-86304482	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr6:86302980-86303130	GM12867	blood:	n/a	n/a
10	RELA	chr6:86302853-86304408	GM15510	blood:	n/a	chr6:86304327-86304336 chr6:86304327-86304336
11	HCFC1	chr6:86302839-86304634	K562	blood:	n/a	n/a
12	POLR2A	chr6:86302873-86304207	MCF-7	breast:	n/a	n/a
13	CBX3	chr6:86302468-86304228	K562	blood:	n/a	n/a
14	POLR2A	chr6:86302849-86304719	Raji	blood:	n/a	n/a
15	POLR2A	chr6:86302973-86304148	A549	lung:	n/a	n/a
16	USF1	chr6:86302798-86303145	ECC-1	luminal epithelium:	n/a	n/a
17	SETDB1	chr6:86302904-86303850	K562	blood:	n/a	n/a
18	TCF7L2	chr6:86302894-86304331	PANC-1	pancreas:	n/a	n/a
19	KAP1	chr6:86302766-86304884	HEK293	kidney:	n/a	n/a
20	POLR2A	chr6:86303087-86304197	GM10847	blood:	n/a	n/a
21	MAX	chr6:86302709-86304385	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr6:86303008-86304318	NB4	blood:	n/a	n/a
23	POLR2A	chr6:86302563-86304307	HepG2	liver:	n/a	n/a
24	BHLHE40	chr6:86302752-86304466	K562	blood:	n/a	n/a
25	POLR2A	chr6:86303029-86304071	GM12891	blood:	n/a	n/a
26	ETS1	chr6:86302945-86304084	GM12878	blood:	n/a	chr6:86303929-86303942 chr6:86303928-86303941 chr6:86303773-86303783
27	GABPA	chr6:86302824-86303397	A549	lung:	n/a	n/a
28	POLR2A	chr6:86302843-86304438	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:86302933-86305372	GM12878	blood:	n/a	n/a
30	TBL1XR1	chr6:86302834-86304736	K562	blood:	n/a	n/a
31	E2F6	chr6:86302885-86303885	A549	lung:	n/a	chr6:86303706-86303715
32	POLR2A	chr6:86303046-86304053	A549	lung:	n/a	n/a
33	POLR2A	chr6:86303050-86304913	PANC-1	pancreas:	n/a	n/a
34	TCF12	chr6:86302745-86304346	A549	lung:	n/a	n/a
35	REST	chr6:86302689-86304484	H1-neurons	neurons:	n/a	chr6:86303869-86303879 chr6:86302859-86302872 chr6:86303885-86303895
36	STAT1	chr6:86302783-86303966	GM12878	blood:	n/a	chr6:86303772-86303792 chr6:86303771-86303791 chr6:86303772-86303792
37	RUNX3	chr6:86302630-86304412	GM12878	blood:	n/a	n/a
38	SIN3A	chr6:86303012-86304588	H1-hESC	embryonic stem cell:	n/a	chr6:86303886-86303895 chr6:86304122-86304133
39	TAF1	chr6:86303074-86304049	SK-N-SH	brain:	n/a	n/a
40	ELK1	chr6:86303042-86304511	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr6:86302840-86304481	GM12892	blood:	n/a	n/a
42	CTBP2	chr6:86302773-86304149	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr6:86302894-86304698	HCT-116	colon:	n/a	n/a
44	HMGN3	chr6:86303019-86304190	K562	blood:	n/a	n/a
45	MAFK	chr6:86303061-86303789	Hela-S3	cervix:	n/a	n/a
46	TEAD4	chr6:86303077-86303346	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAF1	chr6:86302999-86304322	K562	blood:	n/a	n/a
48	EP300	chr6:86302913-86304323	ECC-1	luminal epithelium:	n/a	chr6:86303145-86303161 chr6:86304026-86304042 chr6:86303706-86303722
49	TBP	chr6:86302903-86304798	GM12878	blood:	n/a	n/a
50	CREB1	chr6:86302884-86304283	GM12878	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:14247915..14248484-chr6:86303079..86303653,2	Hela-S3	cervix:
2	chr6:86252970..86257934-chr6:86299533..86304034,5	K562	blood:
3	chr6:86299824..86305374-chr6:86350530..86356322,11	MCF-7	breast:
4	chr16:89630470..89633084-chr6:86301680..86303446,2	MCF-7	breast:
5	chr6:86301331..86304881-chr6:86350851..86355985,12	MCF-7	breast:
6	chr6:86298683..86300956-chr6:86302311..86304856,2	MCF-7	breast:
7	chr6:86289336..86292710-chr6:86302948..86306481,4	MCF-7	breast:
8	chr6:86300286..86310605-chr6:86384413..86390498,39	K562	blood:
9	chr16:28936701..28937234-chr6:86303014..86303832,2	Hela-S3	cervix:
10	chr6:86245425..86248526-chr6:86302419..86304294,3	MCF-7	breast:
11	chr6:86300457..86307827-chr6:86347697..86356337,20	K562	blood:
12	chr6:86301325..86305014-chr6:86385299..86388840,4	MCF-7	breast:
13	chr6:86302271..86307129-chr6:86385631..86390073,11	MCF-7	breast:
14	chr6:86300873..86305245-chr6:86347697..86356641,19	K562	blood:
15	chr6:86284643..86286706-chr6:86299863..86303229,3	K562	blood:
16	chr6:86303002..86303617-chr9:100745459..100746459,2	Hela-S3	cervix:
17	chr6:86298349..86307534-chr6:86383938..86391964,31	K562	blood:
18	chr6:43026849..43027616-chr6:86303059..86303707,2	Hela-S3	cervix:
19	chr6:86298806..86300763-chr6:86301374..86304077,2	MCF-7	breast:

No data

Variant related genes	Relation type
SNX14	TF binding region
ENSG00000177548	Chromatin interaction
ENSG00000136938	Chromatin interaction
ENSG00000267169	Chromatin interaction
ENSG00000112651	Chromatin interaction
ENSG00000135317	Chromatin interaction
ENSG00000137171	Chromatin interaction
ENSG00000203875	Chromatin interaction
ENSG00000135316	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1059306	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10944133	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10944137	1.00[ASW][hapmap];0.85[CEU][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.83[TSI][hapmap]
rs1173415	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1173417	0.82[CEU][hapmap]
rs11755642	0.85[CEU][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs12190603	0.82[CEU][hapmap]
rs12192546	0.85[CEU][hapmap];0.83[LWK][hapmap];0.84[MEX][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap]
rs12193904	0.85[CEU][hapmap]
rs12199873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12203963	0.82[CEU][hapmap]
rs12205013	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12212480	1.00[ASW][hapmap];0.85[CEU][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs12212560	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs13207173	0.85[CEU][hapmap]
rs1335442	0.85[CEU][hapmap];0.83[LWK][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap]
rs1885607	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2065114	0.91[CHB][hapmap]
rs2225754	0.85[CEU][hapmap]
rs2229523	0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2475790	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2475791	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2475792	0.86[CEU][hapmap]
rs2484355	0.86[EUR][1000 genomes]
rs2758840	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2758842	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs2758843	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs2758844	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2758845	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs2758846	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2758847	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2758848	0.82[CEU][hapmap]
rs2783171	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2842600	0.82[CEU][hapmap]
rs2842601	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2842602	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2842603	0.85[CEU][hapmap]
rs2842604	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2842607	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2842608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2842609	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2842611	0.82[CEU][hapmap]
rs2842613	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842614	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs2842617	0.87[EUR][1000 genomes]
rs3087978	0.82[CEU][hapmap]
rs3812133	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4145082	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4235826	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4235827	0.88[ASN][1000 genomes]
rs4304137	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4348284	0.82[CEU][hapmap]
rs4351223	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4383777	0.82[EUR][1000 genomes]
rs4419647	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4431401	0.82[CEU][hapmap]
rs4441928	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4501401	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4579322	0.89[CHB][hapmap]
rs4706240	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4707207	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.97[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4707209	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4707211	0.82[CEU][hapmap]
rs4707217	0.84[EUR][1000 genomes]
rs6454469	0.81[ASN][1000 genomes]
rs6454471	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6454486	0.82[EUR][1000 genomes]
rs6454487	0.85[CEU][hapmap];0.83[TSI][hapmap]
rs6909767	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs6922	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6926049	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6928448	1.00[ASW][hapmap]
rs6935918	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs7452605	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7742201	1.00[CEU][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs7742691	0.90[CEU][hapmap]
rs7746065	0.91[CHB][hapmap]
rs7757864	0.80[EUR][1000 genomes]
rs7768065	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7770359	0.83[ASN][1000 genomes]
rs7771612	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs7775864	0.85[EUR][1000 genomes]
rs911927	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs9294337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9342041	0.86[EUR][1000 genomes]
rs9344532	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9344533	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs9344542	0.86[CEU][hapmap]
rs9351065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9353318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9353320	0.84[EUR][1000 genomes]
rs9353327	0.86[CEU][hapmap]
rs9359658	0.84[EUR][1000 genomes]
rs9362230	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs9362233	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9362239	0.83[EUR][1000 genomes]
rs9444349	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9444352	0.82[CEU][hapmap]
rs9450284	0.81[CEU][hapmap]
rs9450285	0.82[CEU][hapmap]
rs9450290	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9450302	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs9450318	0.83[EUR][1000 genomes]
rs9450319	0.82[EUR][1000 genomes]
rs9647601	0.85[CEU][hapmap]

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	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
4	esv1792638	chr6:86224053-86336300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3351743	chr6:86286282-86308720	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs2842612	SNHG5	cis	Whole Blood	GTEx
rs2842612	SNHG5	cis	Thyroid	GTEx
rs2842612	SNHG5	cis	multi-tissue	Pritchard
rs2842612	SNHG5	cis	Muscle Skeletal	GTEx
rs2842612	SNHG5	cis	Nerve Tibial	GTEx
rs2842612	NT5E	cis	cerebellum	SCAN
rs2842612	SNHG5	cis	Adipose Subcutaneous	GTEx
rs2842612	SNHG5	Cis_1M	lymphoblastoid	RTeQTL
rs2842612	SNHG5	cis	Esophagus Muscularis	GTEx
rs2842612	SNHG5	cis	Esophagus Mucosa	GTEx
rs2842612	SNHG5	cis	Skin Sun Exposed Lower leg	GTEx
rs2842612	SNHG5	cis	Heart Left Ventricle	GTEx
rs2842612	SNHG5	cis	Artery Tibial	GTEx
rs2842612	SNHG5	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86301600-86303600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:86301800-86303200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:86301800-86304600	Active TSS	NH-A	brain
4	chr6:86301800-86304600	Active TSS	NHDF-Ad	bronchial
5	chr6:86301800-86304800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:86301800-86305000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:86302000-86303200	Active TSS	Right Atrium	heart
8	chr6:86302000-86304400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:86302000-86304600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:86302000-86304800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:86302000-86304800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:86302000-86304800	Active TSS	HSMMtube	muscle
13	chr6:86302000-86306200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:86302200-86303200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:86302200-86304600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:86302200-86304600	Active TSS	Brain Angular Gyrus	brain
17	chr6:86302200-86304600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:86302200-86304600	Active TSS	Fetal Brain Female	brain
19	chr6:86302200-86304600	Active TSS	Fetal Kidney	kidney
20	chr6:86302200-86304600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr6:86302200-86304600	Active TSS	Stomach Smooth Muscle	stomach
22	chr6:86302200-86304600	Active TSS	A549	lung
23	chr6:86302200-86304600	Active TSS	NHLF	lung
24	chr6:86302200-86304800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:86302200-86304800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:86302200-86304800	Active TSS	Brain Anterior Caudate	brain
27	chr6:86302200-86304800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr6:86302200-86304800	Active TSS	Rectal Smooth Muscle	rectum
29	chr6:86302200-86304800	Active TSS	HSMM	muscle
30	chr6:86302200-86304800	Active TSS	Osteobl	bone
31	chr6:86302200-86305000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:86302200-86305000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr6:86302200-86305000	Active TSS	HMEC	breast
34	chr6:86302200-86305600	Active TSS	K562	blood
35	chr6:86302400-86304200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:86302400-86304200	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr6:86302400-86304200	Active TSS	HUVEC	blood vessel
38	chr6:86302400-86304400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:86302400-86304400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:86302400-86304400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:86302400-86304400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:86302400-86304400	Active TSS	Liver	Liver
43	chr6:86302400-86304400	Active TSS	Brain Hippocampus Middle	brain
44	chr6:86302400-86304400	Active TSS	Esophagus	oesophagus
45	chr6:86302400-86304400	Active TSS	Hela-S3	cervix
46	chr6:86302400-86304600	Active TSS	Brain Cingulate Gyrus	brain
47	chr6:86302400-86304600	Active TSS	Colon Smooth Muscle	Colon
48	chr6:86302400-86304600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr6:86302400-86304600	Active TSS	Fetal Heart	heart
50	chr6:86302400-86304600	Active TSS	Left Ventricle	heart

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