Variant report

Variant	rs1494559
Chromosome Location	chr5:35860767-35860768
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	chr5:35859166..35861325-chr5:35861673..35863431,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10043573	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10053847	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10056484	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10058680	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059688	0.87[AMR][1000 genomes]
rs10070378	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10472264	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10472989	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10472990	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1073290	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11567722	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11567738	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11567754	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11567761	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520952	0.93[EUR][1000 genomes]
rs13154973	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13162685	0.81[ASN][1000 genomes]
rs13167136	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13169780	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13169814	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13170810	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13172065	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1389834	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1389835	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16899999	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1862632	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2228141	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34496007	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35467464	0.93[EUR][1000 genomes]
rs35588638	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3822731	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521502	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4601063	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4869430	0.81[ASN][1000 genomes]
rs4869492	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6451236	0.81[ASN][1000 genomes]
rs66570838	0.93[EUR][1000 genomes]
rs6888699	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6891095	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892488	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7445819	0.81[ASN][1000 genomes]
rs7710177	0.87[AMR][1000 genomes]
rs7718489	0.88[EUR][1000 genomes]
rs7718919	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7727750	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9292618	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs969128	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022761	chr5:35775802-35902546	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv881358	chr5:35850693-35861068	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv880610	chr5:35850693-35866265	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv880517	chr5:35850693-35870814	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv597813	chr5:35855264-35864590	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv881045	chr5:35856575-35861068	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv880591	chr5:35859863-35870588	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35852400-35862800	Enhancers	Hela-S3	cervix
2	chr5:35855400-35862400	Enhancers	HSMMtube	muscle
3	chr5:35857000-35860800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:35857000-35861000	Active TSS	Thymus	Thymus
5	chr5:35857000-35861200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr5:35857000-35861400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:35857000-35861800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:35857400-35869200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
9	chr5:35857600-35860800	Active TSS	Primary B cells from cord blood	blood
10	chr5:35857800-35866600	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr5:35858000-35862600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:35858000-35862600	Enhancers	NHDF-Ad	bronchial
13	chr5:35858200-35861600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:35858200-35863200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:35858200-35864800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:35858800-35862600	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr5:35858800-35864800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:35858800-35865000	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:35858800-35865400	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:35858800-35866600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
21	chr5:35859000-35861200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:35859000-35862200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:35859000-35862600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:35859000-35864800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
25	chr5:35859000-35864800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
26	chr5:35859000-35865000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
27	chr5:35859200-35861400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:35859600-35861800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:35859600-35862200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
30	chr5:35859600-35862600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:35859600-35862600	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:35859800-35860800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:35859800-35860800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:35859800-35860800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:35859800-35860800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:35859800-35861000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:35859800-35861200	Enhancers	Osteobl	bone
38	chr5:35859800-35861600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:35859800-35863000	Weak transcription	Lung	lung
40	chr5:35860000-35860800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:35860000-35860800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr5:35860000-35860800	Weak transcription	HSMM	muscle
43	chr5:35860000-35861000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:35860000-35861200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:35860000-35861600	Weak transcription	NHEK	skin
46	chr5:35860000-35862200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:35860000-35862800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:35860000-35869000	Weak transcription	HMEC	breast
49	chr5:35860000-35876600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:35860200-35860800	Active TSS	Primary T killer memory cells from peripheral blood	blood

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