Variant report

Variant	rs7951579
Chromosome Location	chr11:46469900-46469901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46468408..46470921-chr11:46496767..46499525,2	K562	blood:
2	chr11:46468131..46471544-chr11:46473469..46477776,3	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10160701	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10838602	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038897	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038900	0.98[EUR][1000 genomes]
rs11038906	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038914	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038919	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11038927	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11819869	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12272795	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12283172	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12292425	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs12295266	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12573978	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12574250	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12574668	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12575519	0.98[EUR][1000 genomes]
rs12576115	0.94[EUR][1000 genomes]
rs12576317	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12576359	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12577142	0.95[EUR][1000 genomes]
rs12578042	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1472001	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1489192	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16938506	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197116	0.86[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs2046768	1.00[CEU][hapmap];0.94[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2067482	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2171667	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2171668	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279465	1.00[CEU][hapmap];0.94[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2291487	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2864072	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2864076	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2902858	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34406563	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes]
rs35324223	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35623865	0.86[CHB][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs3740974	0.98[EUR][1000 genomes]
rs3740977	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs3802888	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4307676	0.87[EUR][1000 genomes]
rs55657382	0.91[EUR][1000 genomes]
rs55661562	0.91[EUR][1000 genomes]
rs55750336	0.90[ASN][1000 genomes]
rs55896955	0.80[EUR][1000 genomes]
rs57535407	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58147945	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59319338	0.95[EUR][1000 genomes]
rs60722866	0.88[EUR][1000 genomes]
rs60932698	0.89[EUR][1000 genomes]
rs61882674	0.82[EUR][1000 genomes]
rs61882678	0.90[EUR][1000 genomes]
rs61882682	0.96[EUR][1000 genomes]
rs61882683	0.92[EUR][1000 genomes]
rs61882691	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882701	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882702	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61882706	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61882709	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882710	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882711	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882712	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882720	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882743	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882746	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882748	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882750	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882756	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882757	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882758	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884262	0.85[EUR][1000 genomes]
rs61884264	0.93[EUR][1000 genomes]
rs61884271	0.89[EUR][1000 genomes]
rs61884273	0.87[EUR][1000 genomes]
rs61884274	0.87[EUR][1000 genomes]
rs61884292	0.80[EUR][1000 genomes]
rs6485682	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6485685	0.91[EUR][1000 genomes]
rs7108770	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7109698	0.81[EUR][1000 genomes]
rs7112229	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7122039	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs7125907	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7126316	0.86[EUR][1000 genomes]
rs7126343	0.87[EUR][1000 genomes]
rs7127529	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7128092	0.86[EUR][1000 genomes]
rs7130141	0.87[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73449983	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7481312	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7484002	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs756343	0.90[ASN][1000 genomes]
rs7924401	0.92[EUR][1000 genomes]
rs7930103	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932866	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs7936413	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs7946705	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7951870	0.80[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs876701	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1050614	chr11:46414720-46496732	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46455200-46472200	Weak transcription	Ovary	ovary
2	chr11:46455200-46488800	Weak transcription	Hela-S3	cervix
3	chr11:46455400-46492200	Weak transcription	A549	lung
4	chr11:46456600-46493600	Weak transcription	Colonic Mucosa	Colon
5	chr11:46456800-46494200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:46456800-46515000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:46457200-46472400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:46457800-46470200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:46458200-46477200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:46460800-46472600	Weak transcription	Small Intestine	intestine
11	chr11:46464000-46470000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:46464200-46472400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:46464200-46489200	Weak transcription	Thymus	Thymus
14	chr11:46464200-46489400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:46464200-46513000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:46464400-46489600	Weak transcription	Placenta	Placenta
17	chr11:46464800-46478600	Weak transcription	Spleen	Spleen
18	chr11:46464800-46479000	Weak transcription	NHEK	skin
19	chr11:46465000-46470000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:46465000-46472400	Weak transcription	NH-A	brain
21	chr11:46465000-46513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:46465200-46471200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:46465200-46474600	Weak transcription	Fetal Intestine Small	intestine
24	chr11:46465200-46475200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:46465200-46479200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:46465200-46479400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:46465200-46489200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:46465200-46489400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:46465200-46489400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:46465200-46489400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:46465200-46494600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:46465200-46504400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr11:46465400-46472200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:46465400-46476600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:46465400-46483200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:46465400-46489400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:46465600-46472200	Weak transcription	Primary B cells from cord blood	blood
38	chr11:46465600-46472600	Weak transcription	Fetal Intestine Large	intestine
39	chr11:46465600-46476800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr11:46465600-46489400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:46465600-46511200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:46465800-46472400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:46465800-46474400	Weak transcription	HepG2	liver
44	chr11:46465800-46476800	Weak transcription	Fetal Thymus	thymus
45	chr11:46465800-46478200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr11:46465800-46486800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:46466000-46488800	Weak transcription	Dnd41	blood
48	chr11:46466200-46496200	Weak transcription	GM12878-XiMat	blood
49	chr11:46467600-46472200	Weak transcription	Primary T cells from cord blood	blood
50	chr11:46468000-46493600	Weak transcription	Right Ventricle	heart

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