Variant report

Variant	rs1864506
Chromosome Location	chr3:158362526-158362527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:468)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2C2	chr3:158362072-158362769	HepG2	liver:	n/a	chr3:158362304-158362313
2	CEBPB	chr3:158362111-158362568	MCF-7	breast:	n/a	n/a
3	MAX	chr3:158362069-158362777	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr3:158362380-158362530	HEK293	kidney:	n/a	n/a
5	YY1	chr3:158362103-158362689	A549	lung:	n/a	n/a
6	PML	chr3:158362021-158362780	K562	blood:	n/a	n/a
7	POLR2A	chr3:158362076-158362713	HepG2	liver:	n/a	n/a
8	SIN3AK20	chr3:158362111-158362749	H1-hESC	embryonic stem cell:	n/a	n/a
9	GABPA	chr3:158362106-158362676	HepG2	liver:	n/a	n/a
10	MBD4	chr3:158362082-158362634	HepG2	liver:	n/a	n/a
11	CBX3	chr3:158362003-158362678	K562	blood:	n/a	n/a
12	POLR2A	chr3:158362113-158362653	K562	blood:	n/a	n/a
13	MYC	chr3:158362093-158362747	K562	blood:	n/a	n/a
14	POLR2A	chr3:158362073-158362794	GM12892	blood:	n/a	n/a
15	GATA3	chr3:158362053-158362695	MCF-7	breast:	n/a	n/a
16	TAF1	chr3:158362188-158362738	GM12891	blood:	n/a	n/a
17	TAF1	chr3:158362050-158362709	SK-N-SH	brain:	n/a	n/a
18	STAT3	chr3:158361943-158362771	MCF10A-Er-Src	breast:	n/a	chr3:158362536-158362547 chr3:158362538-158362547 chr3:158362537-158362546 chr3:158362195-158362206 chr3:158362538-158362546
19	MAX	chr3:158362091-158362730	SK-N-SH	brain:	n/a	n/a
20	REST	chr3:158361991-158362734	A549	lung:	n/a	n/a
21	KAP1	chr3:158362016-158362709	HEK293	kidney:	n/a	n/a
22	RAD21	chr3:158361978-158362692	SK-N-SH_RA	brain:	n/a	n/a
23	MBD4	chr3:158361997-158362530	HepG2	liver:	n/a	n/a
24	TAF1	chr3:158362084-158362805	K562	blood:	n/a	n/a
25	CTCF	chr3:158361633-158362848	A549	lung:	n/a	n/a
26	MAX	chr3:158362065-158362726	Hela-S3	cervix:	n/a	n/a
27	RUNX3	chr3:158362024-158362710	GM12878	blood:	n/a	n/a
28	ELF1	chr3:158362000-158362671	A549	lung:	n/a	chr3:158362306-158362315 chr3:158362305-158362316 chr3:158362303-158362316
29	ATF2	chr3:158361987-158362571	GM12878	blood:	n/a	n/a
30	TAF1	chr3:158362075-158362608	K562	blood:	n/a	n/a
31	YY1	chr3:158362064-158362748	ECC-1	luminal epithelium:	n/a	n/a
32	USF1	chr3:158362076-158362748	SK-N-SH	brain:	n/a	n/a
33	CBX3	chr3:158361906-158362741	K562	blood:	n/a	n/a
34	IRF1	chr3:158362068-158362656	K562	blood:	n/a	chr3:158362194-158362205 chr3:158362192-158362206 chr3:158362196-158362206
35	SIN3AK20	chr3:158361946-158362845	HCT-116	colon:	n/a	n/a
36	POLR2A	chr3:158362030-158362723	K562	blood:	n/a	n/a
37	BCLAF1	chr3:158361900-158362716	K562	blood:	n/a	chr3:158362197-158362206 chr3:158362307-158362316
38	CHD2	chr3:158362059-158362658	Hela-S3	cervix:	n/a	chr3:158362221-158362231
39	FOXM1	chr3:158361990-158362585	GM12878	blood:	n/a	n/a
40	SIN3A	chr3:158362096-158362932	H1-hESC	embryonic stem cell:	n/a	chr3:158362605-158362613
41	SP1	chr3:158362012-158362842	HCT-116	colon:	n/a	chr3:158362122-158362136
42	TBP	chr3:158362139-158362611	HepG2	liver:	n/a	n/a
43	CBX3	chr3:158361901-158362755	HCT-116	colon:	n/a	n/a
44	MXI1	chr3:158362061-158362868	GM12878	blood:	n/a	n/a
45	GABPA	chr3:158362060-158362752	Hela-S3	cervix:	n/a	n/a
46	SIN3AK20	chr3:158362099-158362720	PANC-1	pancreas:	n/a	n/a
47	YY1	chr3:158362062-158362697	H1-hESC	embryonic stem cell:	n/a	n/a
48	SP2	chr3:158361968-158362530	HepG2	liver:	n/a	chr3:158362241-158362256
49	HDAC2	chr3:158362029-158362809	MCF-7	breast:	n/a	chr3:158362266-158362280 chr3:158362770-158362784 chr3:158362772-158362786 chr3:158362771-158362785 chr3:158362773-158362787 chr3:158362782-158362796 chr3:158362774-158362788 chr3:158362261-158362275
50	MAX	chr3:158361968-158362752	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:158362477-158362527	GM12892	blood:	n/a
2	chr3:158362477-158362527	HMEC	breast:	n/a
3	chr3:158362477-158362527	Hepatocyte	liver:	n/a
4	chr3:158362477-158362527	HNPCEpiC	eye:	n/a
5	chr3:158362477-158362527	LNCaP	prostate:	n/a
6	chr3:158362477-158362527	HEK293	kidney:	embryo
7	chr3:158362477-158362527	ECC-1	luminal epithelium:	n/a
8	chr3:158362477-158362527	PFSK-1	brain:	n/a
9	chr3:158362477-158362527	AG04449	skin:	fetal
10	chr3:158362477-158362527	HEEpiC	esophagus:	n/a
11	chr3:158362477-158362527	PrEC	prostate:	n/a
12	chr3:158362477-158362527	HL-60	blood:	n/a
13	chr3:158362477-158362527	BJ	skin:	n/a
14	chr3:158362477-158362527	ProgFib	skin:	n/a
15	chr3:158362477-158362527	MCF-7	breast:	n/a
16	chr3:158362477-158362527	BE2_C	brain:	n/a
17	chr3:158362477-158362527	AG10803	skin:	n/a
18	chr3:158362477-158362527	GM19239	blood:	n/a
19	chr3:158362477-158362527	RPTEC	kidney:	n/a
20	chr3:158362477-158362527	GM12891	blood:	n/a
21	chr3:158362477-158362527	K562	blood:	n/a
22	chr3:158362477-158362527	HPAEpiC	pulmonary alveolar:	n/a
23	chr3:158362477-158362527	IMR90	lung:	fetal
24	chr3:158362477-158362527	HRCEpiC	kidney:	n/a
25	chr3:158362477-158362527	SK-N-SH	brain:	n/a
26	chr3:158362477-158362527	AG09319	gingival:	n/a
27	chr3:158362477-158362527	HRE	kidney:	n/a
28	chr3:158362477-158362527	CMK	blood:	n/a
29	chr3:158362477-158362527	AoSMC	blood vessel:	n/a
30	chr3:158362477-158362527	GM06990	blood:	n/a
31	chr3:158362477-158362527	Jurkat	blood:	n/a
32	chr3:158362477-158362527	MCF10A-Er-Src	breast:	n/a
33	chr3:158362477-158362527	ovcar-3	ovarian:	n/a
34	chr3:158362477-158362527	HAEpiC	amniotic membrane:	n/a
35	chr3:158362477-158362527	HCM	heart:	n/a
36	chr3:158362477-158362527	AG09309	skin:	n/a
37	chr3:158362477-158362527	HepG2	liver:	n/a
38	chr3:158362477-158362527	AG04450	lung:	fetal
39	chr3:158362477-158362527	NH-A	brain:	n/a
40	chr3:158362477-158362527	PANC-1	pancreas:	n/a
41	chr3:158362477-158362527	HCT-116	colon:	n/a
42	chr3:158362477-158362527	HRPEpiC	eye:	n/a
43	chr3:158362477-158362527	T-47D	breast:	n/a
44	chr3:158362477-158362527	HIPEpiC	eye:	n/a
45	chr3:158362477-158362527	U87	brain:	n/a
46	chr3:158362477-158362527	HCPEpiC	choroid plexus:	n/a
47	chr3:158362477-158362527	HUVEC	blood vessel:	n/a
48	chr3:158362477-158362527	SK-N-SH_RA	brain:	n/a
49	chr3:158362477-158362527	SK-N-MC	brain:	n/a
50	chr3:158362477-158362527	NHBE	bronchial:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:158362024..158365390-chr3:158367743..158370169,5	MCF-7	breast:
2	chr3:158362274..158363819-chr3:158388698..158391198,2	MCF-7	breast:
3	chr3:158362317..158363897-chr3:158363962..158367298,3	MCF-7	breast:
4	chr17:74732561..74734850-chr3:158362272..158364719,2	MCF-7	breast:
5	chr3:158361174..158366807-chr3:158367896..158374332,10	K562	blood:
6	chr3:158284750..158291147-chr3:158359832..158364955,8	K562	blood:
7	chr3:158361656..158363521-chr3:158390089..158391771,2	MCF-7	breast:
8	chr3:158360988..158362549-chr3:158517154..158519715,2	K562	blood:

No data

Variant related genes	Relation type
GFM1	TF binding region
GFM1	CpG island
ENSG00000161547	Chromatin interaction
ENSG00000178053	Chromatin interaction
ENSG00000168827	Chromatin interaction
ENSG00000079257	Chromatin interaction
ENSG00000243150	Chromatin interaction
ENSG00000207556	Chromatin interaction
ENSG00000118855	Chromatin interaction
ENSG00000092931	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1047355	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13317399	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1367313	0.96[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492908	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1492909	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16829318	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17642107	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17698464	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17699478	0.82[CHD][hapmap]
rs1812656	0.82[CHB][hapmap];0.82[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864505	0.96[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];1.00[ASN][1000 genomes]
rs2060016	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2060017	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2082157	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2082160	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2082161	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2099198	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2115940	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2363659	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3867390	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61376564	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62286646	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62288346	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6441214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441215	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6441218	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6441219	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6763018	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6763232	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6763412	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6764385	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6767485	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6767563	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6767792	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6768290	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6779780	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6785478	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6785658	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6791844	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6791847	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6800718	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7616819	0.95[CEU][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7624934	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7633910	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7640040	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7648483	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7651847	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8650	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs966145	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966146	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9810874	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9813980	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9814061	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9815725	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9819575	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9832803	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9833067	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9835839	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9836299	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9839476	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9841	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9842500	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs9842501	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9853503	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9853989	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9858849	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9859175	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9863232	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9867957	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9869404	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9872962	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9873022	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9873186	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9873667	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9875043	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9875895	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9878187	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9884039	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv2763312	chr3:158193512-158420588	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv869644	chr3:158308783-158426343	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv3399089	chr3:158356055-158410094	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv1014255	chr3:158358860-158768542	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs1864506	GFM1	cis	multi-tissue	Pritchard
rs1864506	LXN	cis	cerebellum	SCAN
rs1864506	GFM1	cis	Adipose Subcutaneous	GTEx
rs1864506	TIPARP	cis	cerebellum	SCAN
rs1864506	GFM1	Cis_1M	lymphoblastoid	RTeQTL
rs1864506	GFM1	cis	Artery Tibial	GTEx
rs1864506	LXN	cis	parietal	SCAN
rs1864506	GFM1	cis	Skin Sun Exposed Lower leg	GTEx
rs1864506	LXN	Cis_1M	lymphoblastoid	RTeQTL
rs1864506	LXN	cis	lymphoblastoid	seeQTL
rs1864506	GFM1	cis	cerebellum	SCAN
rs1864506	GFM1	cis	Thyroid	GTEx
rs1864506	GFM1	cis	Muscle Skeletal	GTEx
rs1864506	GFM1	cis	Esophagus Mucosa	GTEx
rs1864506	GFM1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158360800-158363400	Active TSS	HepG2	liver
2	chr3:158361800-158363000	Active TSS	Brain Germinal Matrix	brain
3	chr3:158361800-158363200	Active TSS	Fetal Lung	lung
4	chr3:158361800-158363200	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr3:158361800-158363200	Active TSS	GM12878-XiMat	blood
6	chr3:158361800-158363200	Active TSS	Hela-S3	cervix
7	chr3:158361800-158363400	Active TSS	A549	lung
8	chr3:158361800-158363800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr3:158362000-158362600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:158362000-158362600	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr3:158362000-158362800	Active TSS	Primary B cells from cord blood	blood
12	chr3:158362000-158362800	Active TSS	Primary T cells fromperipheralblood	blood
13	chr3:158362000-158362800	Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr3:158362000-158362800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:158362000-158362800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr3:158362000-158362800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:158362000-158362800	Active TSS	Brain Angular Gyrus	brain
18	chr3:158362000-158362800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr3:158362000-158362800	Active TSS	HUVEC	blood vessel
20	chr3:158362000-158362800	Active TSS	Osteobl	bone
21	chr3:158362000-158363000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:158362000-158363000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:158362000-158363000	Active TSS	Brain Anterior Caudate	brain
24	chr3:158362000-158363000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:158362000-158363000	Active TSS	Colon Smooth Muscle	Colon
26	chr3:158362000-158363000	Active TSS	Fetal Kidney	kidney
27	chr3:158362000-158363000	Active TSS	Fetal Stomach	stomach
28	chr3:158362000-158363200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:158362000-158363200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:158362000-158363200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr3:158362000-158363200	Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr3:158362000-158363200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:158362000-158363200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:158362000-158363200	Active TSS	Brain Hippocampus Middle	brain
35	chr3:158362000-158363200	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr3:158362000-158363200	Active TSS	Fetal Brain Female	brain
37	chr3:158362000-158363200	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr3:158362000-158363200	Active TSS	Stomach Smooth Muscle	stomach
39	chr3:158362000-158363200	Active TSS	K562	blood
40	chr3:158362000-158363200	Active TSS	NHEK	skin
41	chr3:158362000-158363400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr3:158362000-158363400	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr3:158362000-158363400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:158362000-158363600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:158362000-158363600	Active TSS	NH-A	brain
46	chr3:158362200-158362600	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr3:158362200-158362600	Transcr. at gene 5' and 3'	Right Atrium	heart
48	chr3:158362200-158362800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:158362200-158362800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:158362200-158362800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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