Variant report

Variant	rs11887337
Chromosome Location	chr2:160979092-160979093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:160978525..160981101-chr2:160983731..160985356,2	MCF-7	breast:
2	chr2:160977849..160980752-chr2:161063430..161065626,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10454740	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10497208	0.81[CEU][hapmap]
rs10803761	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10929970	0.86[CEU][hapmap]
rs10929971	0.84[CEU][hapmap]
rs11897691	0.84[CEU][hapmap]
rs11902965	0.80[CEU][hapmap]
rs12614284	0.81[JPT][hapmap]
rs12692582	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12999707	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13027372	0.84[CEU][hapmap]
rs13031600	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13394776	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13414434	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13427061	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs1457233	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1457235	0.84[CEU][hapmap]
rs1457238	0.80[CEU][hapmap]
rs1457240	0.91[CEU][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs1457241	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1471120	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs1471121	0.91[CEU][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs16844824	0.80[CEU][hapmap]
rs17341294	0.80[JPT][hapmap]
rs1840893	0.94[EUR][1000 genomes]
rs1902622	0.81[CEU][hapmap]
rs2061288	0.91[CEU][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs2357773	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2667031	0.84[EUR][1000 genomes]
rs2667033	0.95[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2715929	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2715933	1.00[YRI][hapmap]
rs2925753	0.85[EUR][1000 genomes]
rs2925756	0.87[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs2925758	0.85[EUR][1000 genomes]
rs2925760	0.83[EUR][1000 genomes]
rs2925763	0.91[CEU][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs3792194	0.81[JPT][hapmap]
rs3792196	0.81[JPT][hapmap]
rs4129787	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4233679	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4233680	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4324285	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4368286	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4399677	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4665149	0.85[ASN][1000 genomes]
rs4665155	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6432582	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6432587	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6432590	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6432593	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6432600	0.84[CEU][hapmap]
rs6432601	0.84[CEU][hapmap]
rs6432602	0.81[CEU][hapmap]
rs6432603	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6720128	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6729540	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6749513	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6752593	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6761082	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7558852	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7563574	0.84[CEU][hapmap]
rs7569555	0.80[CEU][hapmap]
rs7579481	0.81[CEU][hapmap]
rs7583743	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7584446	0.81[CEU][hapmap]
rs7601113	1.00[YRI][hapmap]
rs7608152	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs996112	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription 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	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875346	chr2:160965335-161044155	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160954600-160993000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:160957400-160981200	Weak transcription	Lung	lung
3	chr2:160959200-161004200	Weak transcription	Gastric	stomach
4	chr2:160959400-160985200	Weak transcription	Esophagus	oesophagus
5	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
6	chr2:160964200-160993600	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:160964400-160993600	Weak transcription	Fetal Intestine Large	intestine
8	chr2:160966400-160980200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:160969000-160983000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:160969200-160982000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:160971000-160982200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:160971000-160993800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:160971400-160982400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:160971400-160982400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:160977400-160988600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:160977600-160988800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:160977600-160989200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:160977600-160989600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:160977600-160989600	Strong transcription	HMEC	breast
20	chr2:160978000-160981200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:160978200-160986000	Strong transcription	NHEK	skin
22	chr2:160979000-160980400	Strong transcription	HSMM	muscle
23	chr2:160979000-160981000	Weak transcription	Dnd41	blood

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