Variant report

Variant	rs13426637
Chromosome Location	chr2:161023944-161023945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:161022219..161025044-chr2:161064503..161066413,2	MCF-7	breast:
2	chr2:161021794..161024163-chr2:161085942..161087793,2	MCF-7	breast:
3	chr2:161023206..161025087-chr2:161054934..161056885,2	MCF-7	breast:
4	chr2:161023086..161025221-chr2:161061851..161065492,3	MCF-7	breast:
5	chr2:161023086..161025481-chr2:161028463..161031210,2	MCF-7	breast:
6	chr2:161022948..161024499-chr2:161083614..161085280,2	MCF-7	breast:
7	chr2:161022633..161024812-chr2:161077424..161079936,2	MCF-7	breast:
8	chr2:161022710..161025666-chr2:161026068..161028687,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115221	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10171644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10184041	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10193774	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10197183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10202454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10205184	0.80[ASN][1000 genomes]
rs10205374	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10206615	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs10497208	0.93[YRI][hapmap]
rs10929971	0.93[YRI][hapmap]
rs11896610	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11897691	0.93[YRI][hapmap]
rs11902965	0.96[YRI][hapmap]
rs12478021	1.00[CEU][hapmap]
rs12616323	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13027372	0.96[YRI][hapmap]
rs13394453	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13401953	0.95[EUR][1000 genomes]
rs13403826	0.88[YRI][hapmap]
rs13413256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13413895	0.95[EUR][1000 genomes]
rs1350313	0.81[ASN][1000 genomes]
rs1457235	0.83[YRI][hapmap]
rs1457238	0.96[YRI][hapmap]
rs1457239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16844824	0.85[YRI][hapmap]
rs16844830	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1902622	0.93[YRI][hapmap]
rs2124971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2168672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2290706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755547	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[EUR][1000 genomes]
rs4473342	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4630719	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56011055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57594443	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6432600	0.93[YRI][hapmap]
rs6432601	0.93[YRI][hapmap]
rs6432602	0.93[YRI][hapmap]
rs6432609	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6432611	0.85[ASN][1000 genomes]
rs6730023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6747699	0.82[YRI][hapmap]
rs6758074	0.96[YRI][hapmap]
rs72994790	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7563574	0.93[YRI][hapmap]
rs7563802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7572338	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7579481	0.93[YRI][hapmap]
rs7584446	0.93[YRI][hapmap]
rs7586660	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7588696	0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7590004	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7596372	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7599127	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7603920	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7608557	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs897832	0.96[YRI][hapmap]
rs9973856	0.95[EUR][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
2	chr2:160994400-161037400	Weak transcription	Pancreas	Pancrea
3	chr2:160994600-161038000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:161002600-161028400	Weak transcription	Lung	lung
5	chr2:161005600-161026000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:161005600-161037400	Weak transcription	Esophagus	oesophagus
7	chr2:161014800-161028200	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:161015000-161024600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:161015000-161037400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:161015200-161026800	Weak transcription	HSMM	muscle
11	chr2:161015400-161025400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:161016000-161027200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:161016000-161030800	Strong transcription	HMEC	breast
14	chr2:161016200-161029800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:161016200-161030800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:161016400-161030200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:161018200-161024000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:161019800-161024200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:161020400-161027000	Enhancers	Fetal Kidney	kidney
20	chr2:161020800-161028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:161021400-161026400	Enhancers	Fetal Intestine Small	intestine
22	chr2:161021400-161029400	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr2:161022200-161030800	Strong transcription	NHEK	skin
24	chr2:161022400-161025200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:161022400-161028800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:161022600-161024200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:161023000-161037000	Weak transcription	Stomach Mucosa	stomach
28	chr2:161023400-161024600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:161023600-161024000	Enhancers	HSMMtube	muscle
30	chr2:161023600-161024200	Enhancers	Osteobl	bone
31	chr2:161023800-161024200	Weak transcription	Fetal Intestine Large	intestine

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