Variant report

Variant	rs10064380
Chromosome Location	chr5:41918947-41918948
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	chr5:41903132..41905902-chr5:41917419..41919538,2	MCF-7	breast:
2	chr5:41917819..41920198-chr5:41921685..41923915,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205765	Chromatin interaction

Extended variants
information (count: 186 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs10035434	0.95[EUR][1000 genomes]
rs10040757	0.95[EUR][1000 genomes]
rs10043326	0.95[EUR][1000 genomes]
rs10043371	0.95[EUR][1000 genomes]
rs10045473	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051322	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052226	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10053522	0.95[EUR][1000 genomes]
rs10054130	0.95[EUR][1000 genomes]
rs10057546	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10057587	0.95[EUR][1000 genomes]
rs10057645	0.95[EUR][1000 genomes]
rs10059424	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060170	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062703	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064298	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065016	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10065335	0.95[EUR][1000 genomes]
rs10069638	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1006996	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10070201	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10075064	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10075429	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10076689	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10077481	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078011	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10079651	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1027348	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs10472357	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10472359	0.92[EUR][1000 genomes]
rs10473252	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10473255	1.00[CEU][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10941557	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1118104	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11738956	0.90[EUR][1000 genomes]
rs11739257	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11740524	0.93[ASN][1000 genomes]
rs11741731	1.00[CEU][hapmap]
rs11744279	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11744516	0.81[ASN][1000 genomes]
rs11744623	0.93[ASN][1000 genomes]
rs11745373	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11745460	0.95[EUR][1000 genomes]
rs11745530	0.95[EUR][1000 genomes]
rs11746530	0.95[EUR][1000 genomes]
rs11747648	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11747921	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11748575	1.00[CEU][hapmap]
rs11748578	1.00[CEU][hapmap]
rs11748933	0.95[EUR][1000 genomes]
rs1175227	1.00[ASN][1000 genomes]
rs13353950	1.00[CEU][hapmap]
rs13355194	0.95[EUR][1000 genomes]
rs13357951	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357980	1.00[CEU][hapmap]
rs13358459	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs13360001	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13436920	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1355089	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1508816	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1533014	0.93[ASN][1000 genomes]
rs1567323	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16871972	0.93[ASN][1000 genomes]
rs16872052	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17339188	0.95[EUR][1000 genomes]
rs17739462	0.93[ASN][1000 genomes]
rs17847285	0.93[ASN][1000 genomes]
rs1876654	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2113053	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2231910	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231917	1.00[ASN][1000 genomes]
rs2329815	0.93[ASN][1000 genomes]
rs277406	1.00[ASN][1000 genomes]
rs277407	1.00[ASN][1000 genomes]
rs277414	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs277416	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28647448	0.95[EUR][1000 genomes]
rs316746	0.83[EUR][1000 genomes]
rs316747	0.83[EUR][1000 genomes]
rs316748	0.83[EUR][1000 genomes]
rs316749	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34339137	0.93[ASN][1000 genomes]
rs34493032	0.95[EUR][1000 genomes]
rs34663371	0.93[ASN][1000 genomes]
rs35077044	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs35154057	0.93[ASN][1000 genomes]
rs35252930	0.81[ASN][1000 genomes]
rs35613904	0.93[ASN][1000 genomes]
rs35890705	0.95[EUR][1000 genomes]
rs3863160	0.82[AMR][1000 genomes]
rs4050986	0.93[ASN][1000 genomes]
rs4289604	1.00[ASN][1000 genomes]
rs4324728	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4957171	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957173	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957174	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957175	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957176	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957177	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957178	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957180	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957182	0.92[AMR][1000 genomes]
rs4957422	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957423	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957424	0.93[ASN][1000 genomes]
rs4957428	0.93[ASN][1000 genomes]
rs4957429	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957430	0.93[ASN][1000 genomes]
rs4957431	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957432	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957433	1.00[ASN][1000 genomes]
rs4957434	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4957435	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957436	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957437	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957438	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957439	1.00[ASN][1000 genomes]
rs57944767	0.85[EUR][1000 genomes]
rs582920	0.87[EUR][1000 genomes]
rs583090	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs584067	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs590851	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs591384	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs602274	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs607620	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61058110	0.90[EUR][1000 genomes]
rs621944	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs626907	1.00[JPT][hapmap]
rs627476	0.83[EUR][1000 genomes]
rs641270	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6451582	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs654400	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66820325	0.93[ASN][1000 genomes]
rs67114999	0.93[ASN][1000 genomes]
rs67152480	0.90[EUR][1000 genomes]
rs676067	1.00[ASN][1000 genomes]
rs678061	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6881873	0.93[ASN][1000 genomes]
rs6889217	1.00[JPT][hapmap]
rs72746926	0.90[EUR][1000 genomes]
rs72746928	0.90[EUR][1000 genomes]
rs72746930	0.90[EUR][1000 genomes]
rs72746932	0.90[EUR][1000 genomes]
rs72746933	0.88[EUR][1000 genomes]
rs72746952	0.90[EUR][1000 genomes]
rs72746962	0.85[EUR][1000 genomes]
rs72746966	0.90[EUR][1000 genomes]
rs72746968	0.90[EUR][1000 genomes]
rs72746975	0.90[EUR][1000 genomes]
rs72746983	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746985	0.95[EUR][1000 genomes]
rs72746995	0.95[EUR][1000 genomes]
rs72746996	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746997	1.00[EUR][1000 genomes]
rs72746999	0.95[EUR][1000 genomes]
rs72747000	0.95[EUR][1000 genomes]
rs72747001	0.95[EUR][1000 genomes]
rs72747002	0.95[EUR][1000 genomes]
rs72748607	0.95[EUR][1000 genomes]
rs72748608	0.95[EUR][1000 genomes]
rs72748609	0.95[EUR][1000 genomes]
rs72748611	0.95[EUR][1000 genomes]
rs72748613	0.95[EUR][1000 genomes]
rs72748614	0.95[EUR][1000 genomes]
rs72748616	0.95[EUR][1000 genomes]
rs72748619	0.95[EUR][1000 genomes]
rs72748620	0.95[EUR][1000 genomes]
rs72761834	0.83[EUR][1000 genomes]
rs7341062	0.95[EUR][1000 genomes]
rs7712106	0.95[EUR][1000 genomes]
rs7712911	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7723992	0.95[EUR][1000 genomes]
rs7728482	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7729014	0.93[ASN][1000 genomes]
rs7733096	0.93[ASN][1000 genomes]
rs9292825	0.86[ASN][1000 genomes]
rs9292826	0.90[EUR][1000 genomes]
rs9292828	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs9292832	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9885033	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9885117	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
2	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
3	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
5	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41905000-41924800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:41905200-41925000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:41905600-41921000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:41905600-41924600	Weak transcription	Small Intestine	intestine
5	chr5:41905800-41922200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:41905800-41923800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:41905800-41924400	Weak transcription	Stomach Mucosa	stomach
8	chr5:41905800-41925000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:41905800-41925000	Weak transcription	Gastric	stomach
10	chr5:41906200-41921200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr5:41906400-41920600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:41906400-41921000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:41906400-41922200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr5:41906800-41924600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:41907000-41922200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:41907000-41923600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:41907200-41922400	Strong transcription	Liver	Liver
18	chr5:41907400-41920600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:41907400-41921600	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:41907600-41921000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr5:41907800-41920600	Strong transcription	Primary B cells from cord blood	blood
22	chr5:41907800-41920800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:41907800-41921000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:41907800-41921200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr5:41907800-41921200	Strong transcription	Brain Hippocampus Middle	brain
26	chr5:41907800-41922200	Strong transcription	Fetal Thymus	thymus
27	chr5:41907800-41922400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr5:41908000-41920400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:41908000-41920400	Strong transcription	HUVEC	blood vessel
30	chr5:41908000-41920800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:41908000-41920800	Strong transcription	Placenta	Placenta
32	chr5:41908000-41921200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:41908000-41921400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr5:41908000-41922400	Strong transcription	Adipose Nuclei	Adipose
35	chr5:41908200-41921200	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:41908200-41921400	Strong transcription	Left Ventricle	heart
37	chr5:41908200-41921600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:41908200-41922000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr5:41908200-41922400	Strong transcription	Dnd41	blood
40	chr5:41908400-41920200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:41908400-41921200	Strong transcription	Fetal Lung	lung
42	chr5:41908800-41921400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr5:41908800-41921400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:41909200-41920800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:41909200-41921200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:41909200-41921400	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr5:41909200-41921600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:41909200-41924600	Weak transcription	Fetal Heart	heart
49	chr5:41909400-41920600	Strong transcription	HSMM	muscle
50	chr5:41909400-41921000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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