Variant report

Variant	rs12475126
Chromosome Location	chr2:86421332-86421333
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	WRNIP1	chr2:86421132-86421443	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:86421138-86423364	K562	blood:	n/a	n/a
3	POLR2A	chr2:86421190-86423360	K562	blood:	n/a	n/a
4	POLR2A	chr2:86421148-86423363	K562	blood:	n/a	n/a
5	CHD1	chr2:86420878-86423375	IMR90	lung:	n/a	chr2:86422993-86423000
6	TAL1	chr2:86421282-86423247	K562	blood:	n/a	n/a
7	POLR2A	chr2:86421315-86421515	GM12878	blood:	n/a	n/a
8	JUND	chr2:86421090-86421333	K562	blood:	n/a	n/a
9	MAX	chr2:86421017-86421490	K562	blood:	n/a	n/a
10	CTCF	chr2:86421260-86421410	GM12864	blood:	n/a	n/a
11	POLR2A	chr2:86421226-86421425	K562	blood:	n/a	n/a
12	CTCF	chr2:86420974-86421336	K562	blood:	n/a	n/a
13	HEY1	chr2:86421025-86421450	K562	blood:	n/a	n/a
14	IRF1	chr2:86421305-86423158	K562	blood:	n/a	chr2:86421555-86421564 chr2:86421726-86421738 chr2:86421913-86421930 chr2:86421918-86421930 chr2:86421507-86421521 chr2:86421723-86421737 chr2:86421918-86421932 chr2:86421918-86421931 chr2:86421918-86421931 chr2:86421918-86421930 chr2:86421919-86421933 chr2:86421918-86421929
15	UBTF	chr2:86421024-86423372	K562	blood:	n/a	n/a
16	POLR2A	chr2:86420930-86423396	K562	blood:	n/a	n/a
17	RFX5	chr2:86420697-86423562	SK-N-SH	brain:	n/a	chr2:86423175-86423190 chr2:86423174-86423191 chr2:86421537-86421551 chr2:86423175-86423190
18	MXI1	chr2:86420901-86423531	SK-N-SH	brain:	n/a	n/a
19	ZNF143	chr2:86421015-86422989	K562	blood:	n/a	chr2:86422090-86422099 chr2:86422092-86422101
20	HCFC1	chr2:86421164-86423537	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr2:86421108-86423990	HepG2	liver:	n/a	n/a
22	CTCF	chr2:86421220-86421370	GM06990	blood:	n/a	n/a
23	RCOR1	chr2:86421161-86423369	K562	blood:	n/a	n/a
24	POLR2A	chr2:86421250-86423411	GM12891	blood:	n/a	n/a
25	TEAD4	chr2:86420946-86423266	K562	blood:	n/a	n/a
26	CTCF	chr2:86421220-86421370	NHLF	lung:	n/a	n/a
27	TBL1XR1	chr2:86420899-86423275	K562	blood:	n/a	n/a
28	STAT3	chr2:86421061-86421413	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:86332345..86334570-chr2:86419598..86423755,4	MCF-7	breast:
2	chr2:86398980..86401652-chr2:86420774..86422629,2	K562	blood:
3	chr2:86421282..86424146-chr2:86666466..86669906,3	K562	blood:
4	chr2:86359004..86362633-chr2:86421083..86423832,3	MCF-7	breast:
5	chr2:86329731..86334667-chr2:86420655..86424478,8	K562	blood:
6	chr2:86421023..86423048-chr2:86667398..86669941,4	MCF-7	breast:
7	chr2:86420213..86424453-chr2:86424933..86430971,16	MCF-7	breast:
8	chr2:86330519..86334714-chr2:86420374..86424108,6	K562	blood:

Variant related genes	Relation type
MIR4779	TF binding region
ENSG00000273080	TF binding region
ENSG00000115548	Chromatin interaction
ENSG00000132305	Chromatin interaction
ENSG00000132313	Chromatin interaction
ENSG00000132300	Chromatin interaction
ENSG00000068654	Chromatin interaction

Extended variants
information (count: 153 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10170676	0.86[EUR][1000 genomes]
rs10175330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10184246	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10184462	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[EUR][1000 genomes]
rs10187150	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10188059	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10195199	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs10200018	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10202995	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10208602	0.91[EUR][1000 genomes]
rs10496318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1057893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10901	0.92[EUR][1000 genomes]
rs1124686	0.81[ASN][1000 genomes]
rs11395	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11884038	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11885380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897696	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11899254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151585	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12328100	0.93[JPT][hapmap]
rs12465983	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12469363	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12469762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12475079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12478097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12478369	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12714167	0.82[EUR][1000 genomes]
rs12714169	0.82[EUR][1000 genomes]
rs12714170	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12714171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12714172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12714173	0.91[EUR][1000 genomes]
rs12714174	0.92[EUR][1000 genomes]
rs12714175	0.93[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs12714177	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs12714178	0.82[EUR][1000 genomes]
rs12994382	0.93[EUR][1000 genomes]
rs12996308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998025	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12998164	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13001470	0.89[CEU][hapmap];0.82[CHB][hapmap];0.93[EUR][1000 genomes]
rs13007807	0.83[EUR][1000 genomes]
rs13010906	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13011139	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13011498	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13013916	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13018652	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13019073	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13024123	1.00[CHB][hapmap]
rs13024884	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13027248	0.93[CEU][hapmap];0.82[CHB][hapmap];0.93[EUR][1000 genomes]
rs13028023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs13035593	0.92[EUR][1000 genomes]
rs13403186	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1424522	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1540391	0.85[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs17027013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17551815	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17551822	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2241438	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2278083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2278536	1.00[CHB][hapmap]
rs2288113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288114	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2367203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2367204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34263823	0.91[EUR][1000 genomes]
rs35615768	0.93[EUR][1000 genomes]
rs3770060	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770061	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3821017	0.85[CEU][hapmap]
rs4374375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4402761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4422155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4450596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4569473	0.82[EUR][1000 genomes]
rs62150072	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62150074	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547660	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6547661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547662	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547663	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547665	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs6706204	0.84[EUR][1000 genomes]
rs6707029	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6713309	0.84[YRI][hapmap]
rs6719136	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6725372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6729732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6730226	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6731535	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6731995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6735014	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs6737950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6740044	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs6740287	0.94[EUR][1000 genomes]
rs6740666	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6747474	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6749090	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6749439	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6757387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs715334	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7422930	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs7560376	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs7561589	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7563742	0.93[CEU][hapmap];0.82[CHB][hapmap];0.91[EUR][1000 genomes]
rs7566721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7566961	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7569853	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7572386	1.00[CHB][hapmap]
rs7588325	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7590445	0.93[CEU][hapmap];0.82[CHB][hapmap];0.91[EUR][1000 genomes]
rs7608547	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7609008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8244	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs876242	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9309632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646999	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9653508	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9653569	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789526	0.90[EUR][1000 genomes]
rs9808316	0.88[EUR][1000 genomes]
rs9917140	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9973320	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS 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	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv916616	chr2:86289130-86509326	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 Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv458574	chr2:86385728-86507688	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
21	nsv582372	chr2:86385728-86507688	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs12475126	IMMT	cis	lung	GTEx
rs12475126	IMMT	cis	multi-tissue	Pritchard
rs12475126	MRPL35	cis	uninvolved skin	skin_eQTL
rs12475126	IMMT	cis	Artery Aorta	GTEx
rs12475126	IMMT	cis	Esophagus Muscularis	GTEx
rs12475126	IMMT	cis	Skin Sun Exposed Lower leg	GTEx
rs12475126	IMMT	cis	Lymphoblastoid	GTEx
rs12475126	IMMT	cis	Whole Blood	GTEx
rs12475126	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs12475126	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs12475126	IMMT	cis	Esophagus Mucosa	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86418400-86421400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr2:86418800-86421800	Weak transcription	Lung	lung
3	chr2:86419200-86421400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr2:86419200-86422000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:86420000-86421400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:86420000-86421400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:86420200-86421400	Flanking Active TSS	K562	blood
8	chr2:86420400-86421600	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:86420400-86421600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:86420400-86422000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr2:86420600-86421400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:86420600-86421400	Enhancers	Adipose Nuclei	Adipose
13	chr2:86420600-86421400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr2:86420600-86421400	Enhancers	Stomach Mucosa	stomach
15	chr2:86420600-86421400	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr2:86420600-86422000	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr2:86420600-86422000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr2:86420800-86421400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:86420800-86421400	Enhancers	Fetal Stomach	stomach
20	chr2:86420800-86421400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:86420800-86421600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:86420800-86421600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:86420800-86421600	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:86420800-86421600	Enhancers	Esophagus	oesophagus
25	chr2:86420800-86421600	Flanking Active TSS	Psoas Muscle	Psoas
26	chr2:86420800-86421600	Flanking Active TSS	A549	lung
27	chr2:86420800-86421800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:86420800-86421800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:86420800-86421800	Flanking Active TSS	NH-A	brain
30	chr2:86420800-86421800	Flanking Active TSS	NHLF	lung
31	chr2:86420800-86422000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:86420800-86422000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr2:86421000-86421400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:86421000-86421400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:86421000-86421400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr2:86421000-86421400	Flanking Active TSS	GM12878-XiMat	blood
37	chr2:86421000-86421600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr2:86421000-86421600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:86421000-86421600	Enhancers	Fetal Intestine Large	intestine
40	chr2:86421000-86421600	Enhancers	Gastric	stomach
41	chr2:86421000-86421600	Enhancers	Pancreas	Pancrea
42	chr2:86421000-86421600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr2:86421000-86421600	Flanking Active TSS	HepG2	liver
44	chr2:86421000-86421600	Flanking Active TSS	NHDF-Ad	bronchial
45	chr2:86421000-86421600	Flanking Active TSS	NHEK	skin
46	chr2:86421000-86421800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:86421000-86421800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr2:86421000-86421800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:86421000-86421800	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr2:86421000-86421800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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