Variant report

Variant	rs10130377
Chromosome Location	chr14:45612261-45612262
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45610857..45613853-chr14:45722089..45724947,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129534	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10129236	1.00[CHB][hapmap]
rs10130368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131615	0.95[YRI][hapmap]
rs10132389	0.91[YRI][hapmap]
rs10132547	0.84[JPT][hapmap];0.91[YRI][hapmap]
rs10132949	0.95[YRI][hapmap]
rs10134071	0.90[YRI][hapmap]
rs10134598	1.00[CEU][hapmap];0.84[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs10135085	1.00[CEU][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes]
rs10135890	0.86[YRI][hapmap]
rs10137415	1.00[CHB][hapmap]
rs10138272	0.95[YRI][hapmap]
rs10138997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10140049	0.95[YRI][hapmap]
rs10140222	0.91[YRI][hapmap]
rs10141474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143508	1.00[CHB][hapmap]
rs10143794	0.84[CHB][hapmap]
rs10143806	1.00[CEU][hapmap];0.84[JPT][hapmap];0.84[YRI][hapmap];0.89[EUR][1000 genomes]
rs10145092	0.95[YRI][hapmap]
rs10145267	0.91[YRI][hapmap]
rs10147499	0.96[YRI][hapmap]
rs10149578	0.82[CHB][hapmap]
rs10152101	0.90[YRI][hapmap]
rs11157423	0.87[YRI][hapmap]
rs11157424	0.86[YRI][hapmap]
rs11157433	1.00[CHB][hapmap]
rs11845088	0.96[YRI][hapmap]
rs11845507	1.00[CHB][hapmap]
rs11845956	0.95[YRI][hapmap]
rs11847336	1.00[CEU][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes]
rs11850363	0.91[YRI][hapmap]
rs12100842	0.82[JPT][hapmap]
rs12433547	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12433565	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1252959	0.84[CHB][hapmap]
rs1252960	0.84[CHB][hapmap]
rs1252966	0.82[CHB][hapmap]
rs1266209	0.82[CHB][hapmap]
rs1268576	0.82[CHB][hapmap]
rs1367580	0.82[CHB][hapmap]
rs1431050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17115718	0.87[YRI][hapmap]
rs17115787	0.90[YRI][hapmap]
rs17115809	1.00[CEU][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.89[EUR][1000 genomes]
rs17115811	0.84[JPT][hapmap];0.90[YRI][hapmap];0.89[EUR][1000 genomes]
rs17115860	1.00[CHB][hapmap]
rs17115912	0.82[CHB][hapmap]
rs17636302	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs1969713	0.86[ASN][1000 genomes]
rs2016738	0.84[JPT][hapmap]
rs2033385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2145148	0.84[CHB][hapmap]
rs2750119	0.82[CHB][hapmap]
rs28370281	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28448551	0.86[YRI][hapmap]
rs28637857	1.00[CEU][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3736772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3783700	0.84[JPT][hapmap]
rs3783702	1.00[CEU][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3825624	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs3825625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825627	0.84[JPT][hapmap];0.89[EUR][1000 genomes]
rs3825628	0.89[EUR][1000 genomes]
rs3825629	0.91[YRI][hapmap]
rs3916169	0.82[CHB][hapmap]
rs4900664	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4900667	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4906564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4906568	1.00[CHB][hapmap]
rs57003561	0.89[EUR][1000 genomes]
rs57602646	0.89[EUR][1000 genomes]
rs58826926	0.89[EUR][1000 genomes]
rs59353994	0.89[EUR][1000 genomes]
rs61155826	0.89[EUR][1000 genomes]
rs6572296	1.00[CHB][hapmap]
rs7141145	0.82[CHB][hapmap]
rs7146566	0.91[YRI][hapmap]
rs7147246	0.84[CHB][hapmap]
rs7147811	0.83[YRI][hapmap]
rs7148613	1.00[CHB][hapmap]
rs7158846	0.90[YRI][hapmap]
rs7160373	0.82[CHB][hapmap]
rs72474138	0.89[EUR][1000 genomes]
rs73340611	0.89[EUR][1000 genomes]
rs73340622	0.89[EUR][1000 genomes]
rs73340626	0.89[EUR][1000 genomes]
rs73340655	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73340659	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73349842	0.85[EUR][1000 genomes]
rs73349853	0.89[EUR][1000 genomes]
rs73349857	0.89[EUR][1000 genomes]
rs73349858	0.89[EUR][1000 genomes]
rs73349868	0.89[EUR][1000 genomes]
rs8006685	0.95[YRI][hapmap]
rs8009193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8017844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8020533	1.00[CHB][hapmap]
rs8022008	0.95[YRI][hapmap]
rs8022499	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8022608	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs911041	1.00[CHB][hapmap]
rs9323106	0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers 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 target site	32 gene(s)	inside rSNPs	diseases
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1044445	chr14:45606779-45807171	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
13	esv20586	chr14:45611118-45612852	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45605800-45613800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:45605800-45613800	Weak transcription	Gastric	stomach
3	chr14:45605800-45613800	Weak transcription	Lung	lung
4	chr14:45605800-45618200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:45606000-45614000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:45606000-45618400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:45606000-45618600	Weak transcription	Left Ventricle	heart
8	chr14:45606000-45618800	Weak transcription	Placenta	Placenta
9	chr14:45606000-45622200	Weak transcription	Pancreas	Pancrea
10	chr14:45606000-45634600	Weak transcription	Esophagus	oesophagus
11	chr14:45606000-45679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:45606200-45622400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:45606400-45613800	Weak transcription	Spleen	Spleen
14	chr14:45606400-45615800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:45606400-45616000	Weak transcription	Right Ventricle	heart
16	chr14:45606400-45620600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:45606400-45641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:45606600-45630600	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:45606600-45634400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:45606600-45636400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:45607000-45613600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:45607000-45613800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:45607000-45613800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:45607000-45636400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:45607000-45660000	Weak transcription	Ovary	ovary
26	chr14:45607200-45613600	Weak transcription	Fetal Stomach	stomach
27	chr14:45607200-45613800	Weak transcription	Thymus	Thymus
28	chr14:45607200-45618000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:45607200-45619600	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:45607200-45633200	Weak transcription	Fetal Thymus	thymus
31	chr14:45607200-45634800	Weak transcription	HSMM	muscle
32	chr14:45607200-45638800	Weak transcription	Fetal Brain Female	brain
33	chr14:45607200-45639000	Weak transcription	Liver	Liver
34	chr14:45607400-45613800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:45607400-45614200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:45607400-45615800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:45607400-45616000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:45607400-45618400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:45607400-45618600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:45607400-45618800	Weak transcription	Psoas Muscle	Psoas
41	chr14:45607400-45633200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:45607400-45633200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:45607400-45633600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:45607400-45633600	Weak transcription	Adipose Nuclei	Adipose
45	chr14:45607400-45633600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr14:45607400-45634400	Weak transcription	Fetal Intestine Small	intestine
47	chr14:45607400-45635600	Weak transcription	Fetal Lung	lung
48	chr14:45607400-45636600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:45607400-45650200	Weak transcription	NH-A	brain
50	chr14:45607400-45656000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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