Variant report

Variant	rs431649
Chromosome Location	chr14:68577892-68577893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68574384..68576780-chr14:68577094..68579795,2	MCF-7	breast:
2	chr14:68569325..68572968-chr14:68576089..68579365,3	MCF-7	breast:
3	chr14:68573827..68576752-chr14:68577004..68581266,3	MCF-7	breast:
4	chr14:68575893..68578427-chr14:69259534..69262485,2	MCF-7	breast:
5	chr14:68577333..68579172-chr14:68579200..68581367,2	MCF-7	breast:
6	chr14:68575697..68577939-chr14:68581509..68583841,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs10129355	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs10129612	0.81[JPT][hapmap]
rs10132022	0.83[ASW][hapmap];0.80[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap]
rs10133262	0.80[CHB][hapmap];1.00[CHD][hapmap]
rs10135925	0.93[CHD][hapmap]
rs10136790	0.80[CHB][hapmap]
rs10139236	0.83[JPT][hapmap]
rs10139386	0.83[JPT][hapmap]
rs10143455	0.80[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap]
rs10143843	0.80[CHB][hapmap]
rs10144128	0.93[CHD][hapmap]
rs1022978	0.81[EUR][1000 genomes]
rs1080958	0.84[CEU][hapmap];0.83[JPT][hapmap]
rs11158710	0.93[CHD][hapmap]
rs11158718	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs11158719	1.00[CHD][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap]
rs11158720	0.93[CHD][hapmap]
rs11158721	0.93[CHD][hapmap]
rs11622787	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs11623355	0.80[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap]
rs11623467	1.00[CHD][hapmap];0.83[JPT][hapmap]
rs11624484	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs11629073	0.81[EUR][1000 genomes]
rs11844529	0.80[CHB][hapmap]
rs11846344	0.80[CHB][hapmap];1.00[CHD][hapmap]
rs11850191	0.80[CHB][hapmap];1.00[CHD][hapmap]
rs11852180	0.80[CHB][hapmap]
rs12100584	0.80[CHB][hapmap]
rs12431697	0.80[CHB][hapmap];1.00[CHD][hapmap]
rs12436203	0.83[EUR][1000 genomes]
rs12437043	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12437178	0.80[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap]
rs1467673	0.84[CEU][hapmap]
rs1548264	0.83[JPT][hapmap];0.80[AMR][1000 genomes]
rs1548265	0.83[JPT][hapmap]
rs1555944	0.84[CEU][hapmap];0.83[GIH][hapmap];0.92[MEX][hapmap];0.84[AMR][1000 genomes]
rs1555945	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs17104764	0.80[CHB][hapmap]
rs17104776	0.80[CHB][hapmap]
rs17104786	0.93[CHD][hapmap]
rs17104796	0.93[CHD][hapmap]
rs17104800	0.80[CHB][hapmap]
rs17104823	0.93[CHD][hapmap]
rs17104863	0.93[CHD][hapmap]
rs17104889	1.00[CHD][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap]
rs17104908	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17104917	0.93[CHD][hapmap]
rs1951410	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1952245	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs1952246	0.86[GIH][hapmap];0.80[EUR][1000 genomes]
rs1958111	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs1958112	0.84[CEU][hapmap];0.84[GIH][hapmap];0.92[MEX][hapmap];0.84[AMR][1000 genomes]
rs1958113	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs1958115	0.80[EUR][1000 genomes]
rs1958116	0.84[CEU][hapmap]
rs1980654	0.80[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap]
rs1980655	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs1980850	0.84[CEU][hapmap]
rs2038979	0.80[EUR][1000 genomes]
rs2180537	0.93[CHD][hapmap]
rs2208596	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs2243905	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs2588806	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs2588807	0.83[CEU][hapmap];0.84[MEX][hapmap];0.81[EUR][1000 genomes]
rs2588808	0.80[EUR][1000 genomes]
rs2588813	0.84[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2588814	0.80[EUR][1000 genomes]
rs2588815	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs2588816	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs2588818	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs2588819	0.80[EUR][1000 genomes]
rs2588821	0.84[CEU][hapmap]
rs2588823	0.83[CEU][hapmap]
rs2588825	0.84[CEU][hapmap]
rs2588827	0.86[GIH][hapmap];0.82[EUR][1000 genomes]
rs2588828	0.84[CEU][hapmap]
rs2588830	0.94[CEU][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2588831	0.94[CEU][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2588832	0.89[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2588833	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2588834	1.00[CEU][hapmap];0.90[GIH][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs2588835	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2767365	0.94[CEU][hapmap];0.90[GIH][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs2767366	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2767367	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2767368	0.90[GIH][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs2767379	0.81[EUR][1000 genomes]
rs2767383	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs2767384	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs2877369	0.80[CHB][hapmap]
rs34558039	0.81[EUR][1000 genomes]
rs365934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs372143	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs373918	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];0.97[ASN][1000 genomes]
rs378408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs401021	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];0.97[ASN][1000 genomes]
rs408156	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs411547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs419450	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs424032	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs435620	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs437585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs440627	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs445921	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs448445	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4902535	0.80[CHB][hapmap]
rs4902536	0.80[CHB][hapmap];1.00[CHD][hapmap]
rs4902538	0.80[CHB][hapmap];1.00[CHD][hapmap]
rs4902540	0.80[CHB][hapmap]
rs6573805	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs6573817	0.84[CEU][hapmap];0.84[GIH][hapmap];0.92[MEX][hapmap];0.84[AMR][1000 genomes]
rs67566613	0.80[AMR][1000 genomes]
rs7141160	1.00[CEU][hapmap];0.90[GIH][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs7141450	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7142112	0.80[CHB][hapmap]
rs7142210	0.80[CHB][hapmap]
rs7145044	0.82[CEU][hapmap]
rs7146354	0.80[CHB][hapmap]
rs7147296	0.93[CHD][hapmap]
rs7147522	0.93[CHD][hapmap]
rs7147935	0.93[CHD][hapmap]
rs7148799	0.93[CHD][hapmap]
rs7149343	0.93[CHD][hapmap]
rs7150168	0.83[JPT][hapmap]
rs7151235	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7154646	0.80[CHB][hapmap];1.00[CHD][hapmap]
rs7155097	0.80[CHB][hapmap]
rs7155840	0.80[CHB][hapmap]
rs7156822	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7158544	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs72725183	0.83[EUR][1000 genomes]
rs72725185	0.85[EUR][1000 genomes]
rs72725186	0.86[EUR][1000 genomes]
rs72725187	0.85[EUR][1000 genomes]
rs72725188	0.85[EUR][1000 genomes]
rs7359083	0.93[CHD][hapmap]
rs8007347	0.93[CHD][hapmap]
rs8008791	0.93[CHD][hapmap]
rs8011527	0.81[AMR][1000 genomes]
rs8014000	1.00[CHD][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap]
rs8014524	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8016525	0.80[CHB][hapmap]
rs8020795	0.80[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap]
rs9323501	0.80[CHB][hapmap]
rs959039	0.82[EUR][1000 genomes]
rs9672142	0.80[CHB][hapmap]

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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68569000-68578400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:68569200-68579200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:68571800-68580200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:68572000-68580200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:68573600-68579400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:68573600-68580200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:68573800-68578400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:68573800-68578400	Weak transcription	NHEK	skin
9	chr14:68573800-68591800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:68575200-68580800	Enhancers	NHDF-Ad	bronchial
11	chr14:68575800-68578200	Enhancers	Fetal Lung	lung
12	chr14:68575800-68578600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:68575800-68578800	Enhancers	Rectal Smooth Muscle	rectum
14	chr14:68575800-68579400	Enhancers	Fetal Stomach	stomach
15	chr14:68575800-68579600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:68575800-68579600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:68576000-68578800	Enhancers	Adipose Nuclei	Adipose
18	chr14:68576000-68579000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:68576000-68580800	Enhancers	Fetal Intestine Large	intestine
20	chr14:68576000-68581000	Enhancers	Fetal Intestine Small	intestine
21	chr14:68576200-68578600	Enhancers	Primary hematopoietic stem cells	blood
22	chr14:68576200-68579400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr14:68576200-68580000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:68576400-68578000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:68576400-68578400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:68576400-68578800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr14:68576400-68580200	Weak transcription	Osteobl	bone
28	chr14:68576400-68592000	Weak transcription	Psoas Muscle	Psoas
29	chr14:68576600-68578000	Weak transcription	Primary T cells from cord blood	blood
30	chr14:68576600-68578000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:68576600-68578000	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:68576600-68578800	Enhancers	Dnd41	blood
33	chr14:68576600-68580000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:68576600-68580200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:68576800-68578000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:68576800-68579400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:68577200-68578000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:68577200-68578200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:68577200-68578400	Weak transcription	Fetal Thymus	thymus
40	chr14:68577200-68578600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:68577200-68579000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:68577400-68578400	Enhancers	HepG2	liver
43	chr14:68577400-68579000	Enhancers	A549	lung
44	chr14:68577400-68581000	Enhancers	Fetal Kidney	kidney
45	chr14:68577600-68578000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:68577600-68578400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr14:68577600-68578600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:68577600-68578600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr14:68577600-68578800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:68577600-68578800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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