Variant report

Variant	rs6674843
Chromosome Location	chr1:10458378-10458379
allele	A/T
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	GATA3	chr1:10458345-10459542	A549	lung:	n/a	n/a
2	TCF12	chr1:10458359-10459527	ECC-1	luminal epithelium:	n/a	n/a
3	SIX5	chr1:10458204-10458916	A549	lung:	n/a	n/a
4	JUN	chr1:10458103-10461141	K562	blood:	n/a	chr1:10459395-10459404 chr1:10460823-10460835
5	FOSL2	chr1:10458306-10459356	HepG2	liver:	n/a	n/a
6	YY1	chr1:10458295-10459506	H1-hESC	embryonic stem cell:	n/a	chr1:10459421-10459435 chr1:10459357-10459371 chr1:10458550-10458564 chr1:10459198-10459209 chr1:10459351-10459365
7	HDAC2	chr1:10458290-10458988	H1-hESC	embryonic stem cell:	n/a	chr1:10458888-10458897
8	POLR2A	chr1:10458337-10460130	H1-neurons	neurons:	n/a	n/a
9	MXI1	chr1:10458366-10460038	GM12878	blood:	n/a	chr1:10458813-10458828
10	FOSL2	chr1:10458288-10459444	A549	lung:	n/a	chr1:10459395-10459404
11	TCF12	chr1:10458124-10460817	A549	lung:	n/a	chr1:10460635-10460642
12	MAZ	chr1:10458308-10460230	IMR90	lung:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
13	TAF1	chr1:10458369-10459772	H1-hESC	embryonic stem cell:	n/a	n/a
14	EGR1	chr1:10458287-10460181	HCT-116	colon:	n/a	chr1:10458886-10458899 chr1:10459489-10459502 chr1:10458886-10458899 chr1:10458887-10458898 chr1:10458888-10458898 chr1:10458887-10458901 chr1:10458889-10458898 chr1:10458888-10458898 chr1:10459358-10459368 chr1:10458886-10458899 chr1:10459535-10459544 chr1:10458886-10458900 chr1:10458966-10458976 chr1:10458886-10458899 chr1:10458962-10458975 chr1:10458885-10458900
15	POLR2A	chr1:10458345-10459946	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr1:10458276-10459461	SK-N-MC	brain:	n/a	n/a
17	MYC	chr1:10458348-10460098	K562	blood:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
18	GATA1	chr1:10458265-10460104	PBDE	blood:	n/a	n/a
19	RUNX3	chr1:10458358-10459987	GM12878	blood:	n/a	n/a
20	E2F6	chr1:10458363-10459844	H1-hESC	embryonic stem cell:	n/a	chr1:10459052-10459061 chr1:10459220-10459229 chr1:10459424-10459433
21	MAX	chr1:10458335-10459978	HCT-116	colon:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
22	MYC	chr1:10458130-10460009	A549	lung:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
23	TBL1XR1	chr1:10458359-10459379	K562	blood:	n/a	n/a
24	NR2F2	chr1:10458292-10459421	K562	blood:	n/a	n/a
25	RAD21	chr1:10458340-10459286	IMR90	lung:	n/a	chr1:10459194-10459208
26	MAX	chr1:10458271-10460447	A549	lung:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
27	POLR2A	chr1:10458368-10459456	H1-hESC	embryonic stem cell:	n/a	n/a
28	TBL1XR1	chr1:10458378-10459268	K562	blood:	n/a	n/a
29	REST	chr1:10458244-10459437	A549	lung:	n/a	n/a
30	POLR2A	chr1:10458346-10459806	HUVEC	blood vessel:	n/a	n/a
31	RUNX3	chr1:10458324-10460047	GM12878	blood:	n/a	n/a
32	MAX	chr1:10458329-10459551	A549	lung:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
33	YY1	chr1:10458318-10459378	SK-N-SH	brain:	n/a	chr1:10459357-10459371 chr1:10458550-10458564 chr1:10459198-10459209 chr1:10459351-10459365
34	CUX1	chr1:10458354-10459332	K562	blood:	n/a	n/a
35	MAX	chr1:10458350-10460022	ECC-1	luminal epithelium:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
36	MYBL2	chr1:10458250-10459826	HepG2	liver:	n/a	n/a
37	YY1	chr1:10458312-10459414	A549	lung:	n/a	chr1:10459357-10459371 chr1:10458550-10458564 chr1:10459198-10459209 chr1:10459351-10459365
38	STAT5A	chr1:10458276-10459483	GM12878	blood:	n/a	chr1:10458626-10458638
39	UBTF	chr1:10458364-10460834	K562	blood:	n/a	n/a
40	MXI1	chr1:10458189-10460728	SK-N-SH	brain:	n/a	chr1:10458813-10458828
41	CBX3	chr1:10458371-10460523	K562	blood:	n/a	n/a
42	REST	chr1:10458304-10460195	H1-neurons	neurons:	n/a	chr1:10459452-10459465
43	MTA3	chr1:10458290-10459170	GM12878	blood:	n/a	n/a
44	MXI1	chr1:10458182-10460934	IMR90	lung:	n/a	chr1:10458813-10458828
45	POLR2A	chr1:10458368-10460113	ECC-1	luminal epithelium:	n/a	n/a
46	SIN3AK20	chr1:10458309-10459749	MCF-7	breast:	n/a	n/a
47	IRF1	chr1:10458335-10459569	K562	blood:	n/a	chr1:10459493-10459507 chr1:10459390-10459404 chr1:10459031-10459045
48	POLR2A	chr1:10458193-10460118	H1-hESC	embryonic stem cell:	n/a	n/a
49	SIN3A	chr1:10458378-10460338	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr1:10458308-10459600	K562	blood:	n/a	chr1:10459421-10459435 chr1:10459510-10459524 chr1:10459357-10459371 chr1:10458550-10458564 chr1:10459198-10459209 chr1:10459500-10459511 chr1:10459351-10459365 chr1:10459533-10459547

No.	Distal block	Cell Line	Cell type
1	chr1:10457879..10460190-chr8:103875742..103877594,2	MCF-7	breast:
2	chr1:10457490..10461716-chr1:10469511..10473951,6	K562	blood:
3	chr1:10447111..10452516-chr1:10455817..10460024,9	K562	blood:
4	chr1:10457843..10460253-chr1:10533493..10537083,3	MCF-7	breast:
5	chr1:10456887..10459867-chr1:10534957..10536960,2	K562	blood:
6	chr1:10446399..10450088-chr1:10457513..10461303,7	MCF-7	breast:
7	chr1:10457403..10461622-chr1:10531171..10536559,7	K562	blood:
8	chr1:10269636..10272138-chr1:10457591..10460138,4	K562	blood:
9	chr1:10457797..10461098-chr1:10474071..10478087,9	K562	blood:
10	chr1:10446950..10451985-chr1:10457311..10462205,6	K562	blood:
11	chr1:9882661..9885013-chr1:10458252..10460185,2	K562	blood:
12	chr1:10446221..10450110-chr1:10457451..10462205,13	MCF-7	breast:
13	chr1:10457794..10460664-chr1:10487844..10492697,5	K562	blood:
14	chr1:10457794..10461321-chr1:10487053..10491931,7	K562	blood:

Variant related genes	Relation type
PGD	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000171603	Chromatin interaction
ENSG00000271989	Chromatin interaction
ENSG00000175279	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000265945	Chromatin interaction
ENSG00000054523	Chromatin interaction
ENSG00000160049	Chromatin interaction
ENSG00000251503	Chromatin interaction
ENSG00000142655	Chromatin interaction

Extended variants
information (count: 140 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs1002076	0.87[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs10492969	0.83[CHD][hapmap]
rs10492972	0.91[CEU][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap]
rs1049887	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11121533	0.83[EUR][1000 genomes]
rs11121544	0.90[EUR][1000 genomes]
rs11121545	0.83[EUR][1000 genomes]
rs11121551	0.83[CHD][hapmap];0.95[GIH][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs11121552	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11121557	0.83[CHD][hapmap]
rs11121560	0.88[EUR][1000 genomes]
rs11576384	0.83[EUR][1000 genomes]
rs11576654	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576866	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11578694	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578788	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11579365	0.83[CHD][hapmap];0.95[GIH][hapmap];0.82[TSI][hapmap]
rs11582123	0.91[CEU][hapmap]
rs11585760	0.92[EUR][1000 genomes]
rs11585794	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs11587309	0.91[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11587495	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs11587854	0.88[EUR][1000 genomes]
rs12118323	0.84[EUR][1000 genomes]
rs12119477	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12120042	0.83[CHD][hapmap];0.86[GIH][hapmap]
rs12120191	0.83[CHD][hapmap];0.86[GIH][hapmap]
rs12127604	0.81[CEU][hapmap]
rs12130220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs12130563	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs12131441	0.91[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs12132635	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12136376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs12137456	0.85[EUR][1000 genomes]
rs12137880	0.81[EUR][1000 genomes]
rs12141201	0.88[EUR][1000 genomes]
rs12141416	0.91[CEU][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap]
rs12402052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12403443	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12406776	0.82[EUR][1000 genomes]
rs12407992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs12408019	0.85[EUR][1000 genomes]
rs12409754	0.91[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs12722830	0.83[EUR][1000 genomes]
rs12734068	0.88[EUR][1000 genomes]
rs12734551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs12737239	0.91[CEU][hapmap]
rs12751375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12755094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12755363	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12759696	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1339458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs1467653	0.83[CHD][hapmap]
rs1536262	0.83[CHD][hapmap]
rs1536263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs1538557	0.83[CHD][hapmap];0.86[GIH][hapmap]
rs1555849	0.91[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs1556916	0.83[CHD][hapmap];0.95[GIH][hapmap];0.82[TSI][hapmap]
rs1556917	0.83[CHD][hapmap];0.95[GIH][hapmap];0.84[TSI][hapmap]
rs17034643	0.83[CHD][hapmap];0.86[GIH][hapmap]
rs17034821	0.91[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs17396382	0.95[CEU][hapmap]
rs17400510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs17401924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs17401966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs17410217	0.91[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.81[TSI][hapmap]
rs17410793	0.92[EUR][1000 genomes]
rs17411502	0.87[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1889309	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2004034	0.89[EUR][1000 genomes]
rs2039778	0.83[CHD][hapmap];0.86[GIH][hapmap]
rs2182326	0.83[CHD][hapmap];0.95[GIH][hapmap];0.82[TSI][hapmap]
rs2185252	0.91[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs2229687	0.83[EUR][1000 genomes]
rs2236678	0.83[EUR][1000 genomes]
rs2275424	0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs2276100	0.83[EUR][1000 genomes]
rs34045426	0.82[EUR][1000 genomes]
rs34215045	0.88[EUR][1000 genomes]
rs34225619	0.86[EUR][1000 genomes]
rs35716098	0.84[EUR][1000 genomes]
rs35766535	0.83[EUR][1000 genomes]
rs35837142	0.86[EUR][1000 genomes]
rs3737155	0.91[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs3748577	0.91[CEU][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap]
rs3748578	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3748579	0.83[EUR][1000 genomes]
rs3748581	0.83[CHD][hapmap]
rs3753037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs3762286	0.83[EUR][1000 genomes]
rs4240911	0.91[CEU][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.81[TSI][hapmap]
rs4259656	0.84[EUR][1000 genomes]
rs4333852	0.83[CHD][hapmap];0.95[GIH][hapmap];0.82[TSI][hapmap]
rs4348727	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.92[TSI][hapmap]
rs4475756	0.83[CHD][hapmap];0.95[GIH][hapmap];0.82[TSI][hapmap]
rs4529713	0.83[CHD][hapmap];0.86[GIH][hapmap]
rs4845933	0.86[EUR][1000 genomes]
rs4845934	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4846197	0.83[CHD][hapmap];0.86[GIH][hapmap]
rs4846208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs4846209	0.83[CHD][hapmap];0.86[GIH][hapmap]
rs4846210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs4846212	0.83[CHD][hapmap];0.95[GIH][hapmap]
rs4846213	0.83[EUR][1000 genomes]
rs4846216	0.83[CHD][hapmap]
rs4846219	0.83[CHD][hapmap]
rs4846221	0.83[CHD][hapmap]
rs58053556	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58549151	0.85[EUR][1000 genomes]
rs58697740	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60743860	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61778376	0.83[EUR][1000 genomes]
rs61778399	0.82[EUR][1000 genomes]
rs61778401	0.84[EUR][1000 genomes]
rs61778403	0.82[EUR][1000 genomes]
rs61778404	0.86[EUR][1000 genomes]
rs6541085	0.83[CHD][hapmap]
rs6541089	0.83[CEU][hapmap]
rs6682868	0.83[CHD][hapmap]
rs6700866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs746881	0.91[CEU][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap]
rs7520651	0.87[EUR][1000 genomes]
rs7520935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs7530167	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546368	0.83[CHD][hapmap]
rs7553935	0.83[CHD][hapmap];0.95[GIH][hapmap]
rs8019	0.83[CHD][hapmap];0.95[GIH][hapmap]
rs912962	0.83[CHD][hapmap]
rs912963	0.83[CHD][hapmap];0.86[GIH][hapmap]
rs9332414	0.83[CHD][hapmap];0.86[GIH][hapmap]
rs946501	0.83[CHD][hapmap];0.86[GIH][hapmap]
rs946503	0.83[CHD][hapmap];0.86[GIH][hapmap]
rs946504	0.83[CHD][hapmap]

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	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv8213	chr1:10450914-10460439	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6674843	KIF1B	cis	parietal	SCAN
rs6674843	KIF1B	cis	Thyroid	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10440000-10458400	Weak transcription	Lung	lung
2	chr1:10447800-10458400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:10448200-10458400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:10448600-10458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:10448600-10458400	Weak transcription	HSMM	muscle
6	chr1:10449200-10458400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:10457000-10458800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr1:10457600-10459600	Active TSS	A549	lung
9	chr1:10457800-10458600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:10458000-10458400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:10458000-10458600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:10458000-10458600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:10458000-10458600	Flanking Active TSS	Dnd41	blood
14	chr1:10458000-10458800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr1:10458000-10460200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:10458000-10460200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:10458200-10458400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:10458200-10458400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:10458200-10458400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:10458200-10458400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:10458200-10458400	Enhancers	Liver	Liver
22	chr1:10458200-10458400	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr1:10458200-10458400	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr1:10458200-10458400	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr1:10458200-10458400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:10458200-10458400	Active TSS	Colonic Mucosa	Colon
27	chr1:10458200-10458400	Enhancers	Fetal Brain Male	brain
28	chr1:10458200-10458400	Active TSS	Placenta	Placenta
29	chr1:10458200-10458400	Enhancers	Pancreas	Pancrea
30	chr1:10458200-10458400	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr1:10458200-10458400	Active TSS	Right Atrium	heart
32	chr1:10458200-10458400	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:10458200-10458400	Enhancers	Stomach Mucosa	stomach
34	chr1:10458200-10458400	Active TSS	Stomach Smooth Muscle	stomach
35	chr1:10458200-10458400	Flanking Active TSS	HepG2	liver
36	chr1:10458200-10458400	Active TSS	HMEC	breast
37	chr1:10458200-10458400	Active TSS	HUVEC	blood vessel
38	chr1:10458200-10458600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:10458200-10458600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:10458200-10458600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:10458200-10458600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr1:10458200-10458600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr1:10458200-10458600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:10458200-10458600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr1:10458200-10458600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr1:10458200-10458600	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr1:10458200-10458600	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr1:10458200-10458600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr1:10458200-10458600	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr1:10458200-10458600	Flanking Active TSS	Thymus	Thymus

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