Variant report

Variant	rs11937985
Chromosome Location	chr4:100808909-100808910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100807450..100809212-chr4:100865402..100867857,2	K562	blood:
2	chr4:100802165..100805574-chr4:100807922..100811974,3	K562	blood:
3	chr4:100482482..100485178-chr4:100807913..100810603,2	K562	blood:
4	chr4:100806749..100810334-chr4:100868890..100872526,4	K562	blood:
5	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:

Variant related genes	Relation type
ENSG00000164031	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000145331	Chromatin interaction
ENSG00000138823	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1044044	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10516458	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11097676	0.89[ASW][hapmap];0.85[CEU][hapmap];0.82[GIH][hapmap]
rs11097679	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097680	1.00[ASW][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11097681	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11097682	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11097683	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11097685	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11097686	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11723286	1.00[ASW][hapmap];0.82[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736218	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11736750	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11931053	1.00[ASW][hapmap];0.82[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11931551	0.92[ASN][1000 genomes]
rs11932783	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11935458	0.95[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11935615	0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11936309	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11936580	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11938952	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11939538	0.84[ASW][hapmap];0.82[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11941520	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11941799	0.94[ASW][hapmap];0.95[CEU][hapmap];0.83[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.89[MKK][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11942532	0.84[JPT][hapmap]
rs11944405	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[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];1.00[ASN][1000 genomes]
rs11944656	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11945303	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947295	0.90[CEU][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11947412	0.81[JPT][hapmap]
rs1365491	0.85[CEU][hapmap]
rs1465518	0.92[JPT][hapmap]
rs1465519	0.89[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs17029573	0.89[ASW][hapmap];0.90[CEU][hapmap];0.83[CHB][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.84[LWK][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17029662	0.84[ASW][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17029673	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17029724	0.91[ASN][1000 genomes]
rs2017707	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2070738	0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2081626	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2081627	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2162386	0.92[JPT][hapmap]
rs2276939	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2866179	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34453741	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3733463	0.89[ASW][hapmap];0.90[CEU][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];0.84[LWK][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes]
rs3737484	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775500	0.89[ASW][hapmap];0.85[CEU][hapmap]
rs3775501	0.89[ASW][hapmap];0.85[CEU][hapmap];0.82[GIH][hapmap]
rs3775512	0.84[JPT][hapmap]
rs3822103	0.92[JPT][hapmap]
rs4320141	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4536938	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs5015717	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55726736	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55797991	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs55888547	0.91[ASN][1000 genomes]
rs56007968	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56140620	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57322716	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57798058	0.80[EUR][1000 genomes]
rs58304154	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58391911	0.82[EUR][1000 genomes]
rs58534089	0.80[EUR][1000 genomes]
rs60070547	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61191235	0.82[ASN][1000 genomes]
rs61203457	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62305038	0.91[ASN][1000 genomes]
rs62306101	0.93[ASN][1000 genomes]
rs6532834	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532837	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6532839	0.91[ASN][1000 genomes]
rs6532840	0.91[ASN][1000 genomes]
rs6813099	0.89[ASW][hapmap];0.90[CEU][hapmap];0.93[GIH][hapmap];0.84[LWK][hapmap]
rs6814140	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6814181	0.94[ASW][hapmap];0.90[CEU][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap]
rs6816635	0.94[ASW][hapmap];0.82[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6817649	0.90[CEU][hapmap];0.89[GIH][hapmap]
rs6824513	0.93[ASN][1000 genomes]
rs6829912	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831193	0.92[ASN][1000 genomes]
rs6832726	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6838495	0.91[ASN][1000 genomes]
rs6842840	0.82[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6843247	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6845556	0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6848666	0.95[CEU][hapmap];0.83[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72686215	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs732386	0.91[ASN][1000 genomes]
rs73832925	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7660185	0.93[ASN][1000 genomes]
rs7666156	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7666640	0.80[EUR][1000 genomes]
rs7686565	0.90[CEU][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes]
rs7687287	0.81[CEU][hapmap];0.84[JPT][hapmap]
rs7688737	0.81[EUR][1000 genomes]
rs890486	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100789600-100814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:100790400-100814600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:100797000-100809600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:100797600-100809000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:100798000-100809600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr4:100798000-100810800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr4:100798400-100814200	Weak transcription	Stomach Mucosa	stomach
8	chr4:100798600-100809000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:100799000-100813400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr4:100799200-100811000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:100799400-100812200	Weak transcription	HepG2	liver
12	chr4:100799600-100814800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:100800000-100810400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:100800200-100814200	Weak transcription	Hela-S3	cervix
15	chr4:100801400-100809000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr4:100801800-100814400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:100801800-100814600	Weak transcription	Psoas Muscle	Psoas
18	chr4:100802000-100809000	Weak transcription	Gastric	stomach
19	chr4:100802000-100812200	Weak transcription	Brain Angular Gyrus	brain
20	chr4:100802000-100814200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:100802000-100814200	Weak transcription	Aorta	Aorta
22	chr4:100802000-100814200	Weak transcription	Brain Germinal Matrix	brain
23	chr4:100802000-100814200	Weak transcription	Spleen	Spleen
24	chr4:100802000-100814200	Weak transcription	NHLF	lung
25	chr4:100802000-100814400	Weak transcription	Pancreas	Pancrea
26	chr4:100802200-100810000	Weak transcription	Fetal Intestine Small	intestine
27	chr4:100802200-100812800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:100802200-100814000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:100802200-100814200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:100802200-100814200	Weak transcription	Colonic Mucosa	Colon
31	chr4:100802200-100814200	Weak transcription	A549	lung
32	chr4:100802200-100814600	Weak transcription	Fetal Stomach	stomach
33	chr4:100802200-100814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:100802200-100814800	Weak transcription	Esophagus	oesophagus
35	chr4:100802200-100814800	Weak transcription	Lung	lung
36	chr4:100802400-100809000	Weak transcription	Left Ventricle	heart
37	chr4:100802400-100813600	Weak transcription	Small Intestine	intestine
38	chr4:100802400-100814000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:100802400-100814200	Weak transcription	Ovary	ovary
40	chr4:100802400-100814200	Weak transcription	Right Ventricle	heart
41	chr4:100802400-100814200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:100802400-100814200	Weak transcription	Thymus	Thymus
43	chr4:100802400-100814400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:100802800-100812400	Weak transcription	Fetal Brain Female	brain
45	chr4:100803000-100809000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:100803000-100814200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:100803000-100814200	Weak transcription	Fetal Brain Male	brain
48	chr4:100803000-100814200	Weak transcription	HSMMtube	muscle
49	chr4:100803200-100809000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:100803200-100809000	Weak transcription	Stomach Smooth Muscle	stomach

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