Variant report

Variant	rs2031564
Chromosome Location	chr14:67827516-67827517
allele	A/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	MAX	chr14:67826124-67827679	HCT-116	colon:	n/a	n/a
2	CTCF	chr14:67825771-67827860	A549	lung:	n/a	chr14:67826797-67826815 chr14:67826792-67826813 chr14:67826798-67826814
3	POLR2A	chr14:67826138-67827536	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr14:67825964-67827590	HUVEC	blood vessel:	n/a	n/a
5	TAF1	chr14:67825767-67827599	ECC-1	luminal epithelium:	n/a	n/a
6	GABPA	chr14:67826163-67827554	SK-N-SH	brain:	n/a	chr14:67827040-67827051 chr14:67827017-67827028 chr14:67826704-67826718 chr14:67827023-67827032 chr14:67827019-67827028 chr14:67827040-67827054 chr14:67826573-67826580 chr14:67827042-67827051
7	HEY1	chr14:67826299-67827808	K562	blood:	n/a	n/a
8	POLR2A	chr14:67826125-67827772	GM12892	blood:	n/a	n/a
9	ZNF143	chr14:67826302-67827554	Hela-S3	cervix:	n/a	n/a
10	JUND	chr14:67825625-67827817	H1-hESC	embryonic stem cell:	n/a	chr14:67827706-67827716 chr14:67827707-67827716 chr14:67827705-67827716 chr14:67827705-67827717 chr14:67827706-67827716 chr14:67827706-67827716 chr14:67827706-67827716
11	BCLAF1	chr14:67826311-67827677	GM12878	blood:	n/a	chr14:67826570-67826579 chr14:67826576-67826585 chr14:67827448-67827457 chr14:67826567-67826576
12	MAX	chr14:67826351-67827554	K562	blood:	n/a	n/a
13	MAX	chr14:67826303-67827593	SK-N-SH	brain:	n/a	n/a
14	CHD1	chr14:67824371-67828204	IMR90	lung:	n/a	chr14:67826150-67826157
15	REST	chr14:67826997-67827579	GM12878	blood:	n/a	chr14:67827300-67827309
16	RCOR1	chr14:67826300-67827711	K562	blood:	n/a	n/a
17	POLR2A	chr14:67826232-67827638	K562	blood:	n/a	n/a
18	SIN3AK20	chr14:67825921-67827921	MCF-7	breast:	n/a	n/a
19	SIN3AK20	chr14:67826246-67827704	A549	lung:	n/a	n/a
20	MXI1	chr14:67825339-67827877	SK-N-SH	brain:	n/a	n/a
21	MAX	chr14:67826098-67827736	Hela-S3	cervix:	n/a	chr14:67827706-67827715
22	POLR2A	chr14:67826261-67827671	GM12892	blood:	n/a	n/a
23	POLR2A	chr14:67826282-67827700	GM12891	blood:	n/a	n/a
24	MAX	chr14:67826269-67827880	NB4	blood:	n/a	chr14:67827706-67827715
25	UBTF	chr14:67827013-67827598	K562	blood:	n/a	n/a
26	POLR2A	chr14:67826309-67827596	GM12891	blood:	n/a	n/a
27	POLR2A	chr14:67825881-67827648	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr14:67826091-67827785	GM12878	blood:	n/a	n/a
29	POLR2A	chr14:67825466-67827837	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr14:67826100-67827572	GM12891	blood:	n/a	n/a
31	MAX	chr14:67826242-67827739	MCF-7	breast:	n/a	chr14:67827706-67827715
32	REST	chr14:67826991-67827520	K562	blood:	n/a	chr14:67827300-67827309
33	CHD2	chr14:67825754-67827832	Hela-S3	cervix:	n/a	chr14:67826150-67826157
34	ELF1	chr14:67826085-67827738	MCF-7	breast:	n/a	chr14:67826577-67826586 chr14:67826571-67826580
35	TAF1	chr14:67826267-67827644	A549	lung:	n/a	n/a
36	MAX	chr14:67826355-67827521	H1-hESC	embryonic stem cell:	n/a	n/a
37	RCOR1	chr14:67826251-67827524	HepG2	liver:	n/a	n/a
38	ELK4	chr14:67826151-67827586	Hela-S3	cervix:	n/a	chr14:67826577-67826585 chr14:67826576-67826585 chr14:67826574-67826585
39	POLR2A	chr14:67826188-67827727	GM12892	blood:	n/a	n/a
40	STAT3	chr14:67826380-67827552	GM12878	blood:	n/a	n/a
41	SMARCC1	chr14:67825734-67827648	Hela-S3	cervix:	n/a	n/a
42	CREB1	chr14:67826323-67827561	GM12878	blood:	n/a	n/a
43	POLR2A	chr14:67826154-67827720	GM12878	blood:	n/a	n/a
44	MAX	chr14:67826324-67827604	HCT-116	colon:	n/a	n/a
45	TCF7L2	chr14:67826322-67827634	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr14:67826147-67827621	HepG2	liver:	n/a	n/a
47	POLR2A	chr14:67826146-67827562	MCF-7	breast:	n/a	n/a
48	HA-E2F1	chr14:67825821-67827800	MCF-7	breast:	n/a	chr14:67827018-67827027 chr14:67827776-67827787 chr14:67827776-67827787 chr14:67826871-67826885 chr14:67826150-67826157
49	MYC	chr14:67825994-67827617	A549	lung:	n/a	n/a
50	POLR2A	chr14:67826305-67827582	GM12892	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:67827467-67827517	AG04449	skin:	fetal
2	chr14:67827467-67827517	HEEpiC	esophagus:	n/a
3	chr14:67827467-67827517	NHDF-neo	bronchial:	n/a
4	chr14:67827467-67827517	AG09319	gingival:	n/a
5	chr14:67827467-67827517	ECC-1	luminal epithelium:	n/a
6	chr14:67827467-67827517	HCF	heart:	n/a
7	chr14:67827467-67827517	HCT-116	colon:	n/a
8	chr14:67827467-67827517	U87	brain:	n/a
9	chr14:67827467-67827517	H1-hESC	embryonic stem cell:	embryo
10	chr14:67827467-67827517	SAEC	small airway:	n/a
11	chr14:67827467-67827517	NB4	blood:	n/a
12	chr14:67827467-67827517	HIPEpiC	eye:	n/a
13	chr14:67827467-67827517	NH-A	brain:	n/a
14	chr14:67827467-67827517	MCF-7	breast:	n/a
15	chr14:67827467-67827517	HEK293	kidney:	embryo
16	chr14:67827467-67827517	A549	lung:	n/a
17	chr14:67827467-67827517	GM12891	blood:	n/a
18	chr14:67827467-67827517	GM06990	blood:	n/a
19	chr14:67827467-67827517	IMR90	lung:	fetal
20	chr14:67827467-67827517	HNPCEpiC	eye:	n/a
21	chr14:67827467-67827517	HRE	kidney:	n/a
22	chr14:67827467-67827517	HL-60	blood:	n/a
23	chr14:67827467-67827517	HAEpiC	amniotic membrane:	n/a
24	chr14:67827467-67827517	SKMC	muscle:	n/a
25	chr14:67827467-67827517	GM12892	blood:	n/a
26	chr14:67827467-67827517	AoSMC	blood vessel:	n/a
27	chr14:67827467-67827517	BJ	skin:	n/a
28	chr14:67827467-67827517	PFSK-1	brain:	n/a
29	chr14:67827467-67827517	GM19239	blood:	n/a
30	chr14:67827467-67827517	CMK	blood:	n/a
31	chr14:67827467-67827517	BE2_C	brain:	n/a
32	chr14:67827467-67827517	SK-N-SH_RA	brain:	n/a
33	chr14:67827467-67827517	HepG2	liver:	n/a
34	chr14:67827467-67827517	LNCaP	prostate:	n/a
35	chr14:67827467-67827517	ovcar-3	ovarian:	n/a
36	chr14:67827467-67827517	Caco-2	colon:	n/a
37	chr14:67827467-67827517	HRPEpiC	eye:	n/a
38	chr14:67827467-67827517	MCF10A-Er-Src	breast:	n/a
39	chr14:67827467-67827517	GM12878	blood:	n/a
40	chr14:67827467-67827517	AG10803	skin:	n/a
41	chr14:67827467-67827517	HUVEC	blood vessel:	n/a
42	chr14:67827467-67827517	Hepatocyte	liver:	n/a
43	chr14:67827467-67827517	HRCEpiC	kidney:	n/a
44	chr14:67827467-67827517	Jurkat	blood:	n/a
45	chr14:67827467-67827517	PANC-1	pancreas:	n/a
46	chr14:67827467-67827517	T-47D	breast:	n/a
47	chr14:67827467-67827517	PrEC	prostate:	n/a
48	chr14:67827467-67827517	K562	blood:	n/a
49	chr14:67827467-67827517	AG04450	lung:	fetal
50	chr14:67827467-67827517	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67817307..67820185-chr14:67826327..67829228,3	MCF-7	breast:
2	chr14:67816976..67818692-chr14:67827007..67828546,2	MCF-7	breast:
3	chr14:67706036..67709545-chr14:67826326..67828458,4	MCF-7	breast:
4	chr14:67827002..67827591-chr19:35739791..35740514,2	Hela-S3	cervix:
5	chr14:67825430..67827590-chr14:67846726..67850726,3	K562	blood:
6	chr14:67825454..67827897-chr14:68140364..68142418,2	MCF-7	breast:
7	chr14:67824897..67826602-chr14:67827148..67830067,2	K562	blood:
8	chr14:67706908..67708667-chr14:67827464..67829179,2	K562	blood:
9	chr1:235667313..235667901-chr14:67827029..67827968,2	Hela-S3	cervix:
10	chr14:67825491..67828010-chr14:67847426..67849597,2	MCF-7	breast:
11	chr14:67827042..67827585-chr7:158622193..158622723,2	Hela-S3	cervix:

Variant related genes	Relation type
EIF2S1	TF binding region
ATP6V1D	TF binding region
EIF2S1	CpG island
ATP6V1D	CpG island
ENSG00000162885	Chromatin interaction
ENSG00000072415	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000134001	Chromatin interaction
ENSG00000117868	Chromatin interaction
ENSG00000100554	Chromatin interaction
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1006595	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs10129185	0.92[ASN][1000 genomes]
rs10131212	0.81[CHD][hapmap]
rs10131984	0.84[EUR][1000 genomes]
rs10132093	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10137557	0.86[CHB][hapmap]
rs10138755	0.81[CHB][hapmap]
rs10138824	0.81[CHD][hapmap]
rs10138850	0.83[EUR][1000 genomes]
rs10138865	0.83[EUR][1000 genomes]
rs10139953	0.91[ASN][1000 genomes]
rs10141180	0.91[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10141879	0.80[CHD][hapmap];0.82[JPT][hapmap]
rs10144090	0.81[CHD][hapmap]
rs10144122	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10144417	0.82[CHD][hapmap];0.81[GIH][hapmap]
rs10144774	0.92[ASN][1000 genomes]
rs10146389	0.82[ASN][1000 genomes]
rs10147362	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10147852	0.81[CHD][hapmap]
rs10149615	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431718	0.81[CHD][hapmap]
rs1044745	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1045060	0.82[CHD][hapmap]
rs1078194	0.83[JPT][hapmap]
rs11158653	1.00[CEU][hapmap];0.82[GIH][hapmap];0.83[MEX][hapmap]
rs11158655	0.81[CHD][hapmap];0.81[GIH][hapmap]
rs12588292	0.86[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs12588458	0.88[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12590065	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs12590956	0.83[JPT][hapmap]
rs1473732	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1535491	0.81[CHD][hapmap]
rs17104103	0.82[CHD][hapmap]
rs17104114	0.91[CEU][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap]
rs17104202	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17248526	0.81[CHD][hapmap]
rs17248616	0.80[CHB][hapmap]
rs1885590	0.86[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1918483	0.84[EUR][1000 genomes]
rs2031563	0.82[CHD][hapmap]
rs2094162	0.91[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2146229	0.81[CHD][hapmap]
rs2146230	0.80[CHD][hapmap]
rs2148160	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2281676	0.83[EUR][1000 genomes]
rs2296560	0.81[CHD][hapmap];0.81[GIH][hapmap]
rs2296561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2296562	0.91[ASN][1000 genomes]
rs2296563	0.90[ASN][1000 genomes]
rs2319777	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28521373	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3759755	0.82[CHD][hapmap];0.81[GIH][hapmap]
rs3784085	0.91[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs3818467	0.82[CHD][hapmap]
rs3844530	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4143909	0.86[JPT][hapmap]
rs4636843	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57154550	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs58257525	0.91[ASN][1000 genomes]
rs60505324	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61612119	0.88[EUR][1000 genomes]
rs6573758	0.88[EUR][1000 genomes]
rs6573760	0.88[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap];0.88[EUR][1000 genomes]
rs6573763	0.84[JPT][hapmap]
rs6573765	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6573768	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573769	0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs6573770	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs66851210	0.92[ASN][1000 genomes]
rs67968914	0.93[ASN][1000 genomes]
rs68002629	0.88[ASN][1000 genomes]
rs7147207	0.84[EUR][1000 genomes]
rs7148044	0.82[EUR][1000 genomes]
rs7148425	0.84[EUR][1000 genomes]
rs7151898	0.84[EUR][1000 genomes]
rs7152903	0.80[CHD][hapmap]
rs7153725	0.86[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7154607	0.86[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7156119	0.84[EUR][1000 genomes]
rs7156441	0.82[CHD][hapmap];0.81[GIH][hapmap]
rs7157704	0.90[ASN][1000 genomes]
rs73279056	0.88[EUR][1000 genomes]
rs73280987	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73282707	0.86[ASN][1000 genomes]
rs73284892	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs764039	0.82[JPT][hapmap]
rs8003327	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8004148	0.83[CEU][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap]
rs8004488	0.82[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.87[YRI][hapmap];0.88[EUR][1000 genomes]
rs8005756	0.89[ASN][1000 genomes]
rs8005876	0.86[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs8006042	0.87[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs8006519	0.82[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap]
rs8007033	0.80[CHD][hapmap];0.81[GIH][hapmap]
rs8007696	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007866	0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs8008443	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs8008619	0.82[CHD][hapmap];0.81[GIH][hapmap]
rs8008724	0.82[CHD][hapmap];0.81[GIH][hapmap]
rs8010261	0.84[EUR][1000 genomes]
rs8015641	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs8015819	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8016024	0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs8016037	0.81[CHD][hapmap]
rs8019109	0.84[ASN][1000 genomes]
rs8020850	0.91[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs8021896	0.81[CHD][hapmap]
rs9323497	0.82[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap]
rs960797	0.86[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs9743912	0.82[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs9743983	0.91[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
4	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2031564	ZFYVE26	cis	cerebellum	SCAN
rs2031564	FAM71D	cis	cerebellum	SCAN
rs2031564	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs2031564	EIF2S1	cis	lymphoblastoid	seeQTL
rs2031564	EIF2S1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67823400-67828400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:67823800-67828400	Active TSS	Right Ventricle	heart
3	chr14:67823800-67828600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:67824000-67827800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr14:67824000-67828000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr14:67824200-67829600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:67824200-67829600	Active TSS	K562	blood
8	chr14:67824600-67828000	Active TSS	NHLF	lung
9	chr14:67824600-67828600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr14:67824800-67828000	Active TSS	HSMM	muscle
11	chr14:67824800-67828200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr14:67825200-67828000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr14:67825200-67828000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:67825200-67828000	Active TSS	A549	lung
15	chr14:67825200-67828000	Active TSS	Hela-S3	cervix
16	chr14:67825200-67828200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:67825200-67828400	Active TSS	H1 Cell Line	embryonic stem cell
18	chr14:67825200-67828800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr14:67825400-67827800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:67825400-67827800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:67825400-67827800	Active TSS	Esophagus	oesophagus
22	chr14:67825400-67827800	Active TSS	Left Ventricle	heart
23	chr14:67825400-67827800	Active TSS	Lung	lung
24	chr14:67825400-67828000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:67825400-67828000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:67825400-67828000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:67825400-67828000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:67825400-67828000	Active TSS	HSMMtube	muscle
29	chr14:67825400-67828000	Active TSS	NHDF-Ad	bronchial
30	chr14:67825400-67828200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:67825400-67828200	Active TSS	Ovary	ovary
32	chr14:67825400-67829800	Active TSS	Psoas Muscle	Psoas
33	chr14:67825600-67827600	Active TSS	Colon Smooth Muscle	Colon
34	chr14:67825600-67827600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr14:67825600-67827800	Active TSS	H9 Cell Line	embryonic stem cell
36	chr14:67825600-67827800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:67825600-67827800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:67825600-67827800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:67825600-67827800	Active TSS	Gastric	stomach
40	chr14:67825600-67827800	Active TSS	Pancreas	Pancrea
41	chr14:67825600-67827800	Active TSS	Placenta Amnion	Placenta Amnion
42	chr14:67825600-67827800	Active TSS	NH-A	brain
43	chr14:67825600-67828000	Active TSS	Muscle Satellite Cultured Cells	--
44	chr14:67825600-67828000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:67825600-67828000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:67825600-67828000	Active TSS	Fetal Intestine Small	intestine
47	chr14:67825600-67828000	Active TSS	Fetal Muscle Trunk	muscle
48	chr14:67825600-67828000	Active TSS	Stomach Mucosa	stomach
49	chr14:67825600-67828000	Active TSS	NHEK	skin
50	chr14:67825600-67828200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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