Variant report

Variant	rs11161590
Chromosome Location	chr1:85764998-85764999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85763329..85765348-chr1:86045622..86047839,3	MCF-7	breast:
2	chr1:85763770..85765499-chr1:85767346..85769408,2	MCF-7	breast:
3	chr1:85764436..85767299-chr1:86046418..86049258,3	MCF-7	breast:
4	chr1:85740595..85746052-chr1:85759606..85765261,11	MCF-7	breast:
5	chr1:85743301..85744936-chr1:85762613..85765116,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction
ENSG00000142867	Chromatin interaction
ENSG00000223653	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10782547	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873698	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11161589	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585614	0.81[AFR][1000 genomes]
rs2030075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
2	chr1:85759600-85765200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:85762800-85765400	Enhancers	HSMMtube	muscle
4	chr1:85762800-85765600	Enhancers	Lung	lung
5	chr1:85763000-85765000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:85763000-85765000	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:85763000-85765000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr1:85763000-85765000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:85763000-85765200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr1:85763200-85765000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:85763400-85765400	Enhancers	Dnd41	blood
12	chr1:85763800-85765600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:85764000-85765000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr1:85764000-85765200	Enhancers	HMEC	breast
15	chr1:85764000-85765400	Enhancers	NH-A	brain
16	chr1:85764200-85765000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:85764200-85765000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:85764200-85765000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:85764200-85765400	Enhancers	NHEK	skin
20	chr1:85764200-85768400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:85764400-85765000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:85764400-85765000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:85764400-85765000	Enhancers	Osteobl	bone
24	chr1:85764400-85765600	Enhancers	HUVEC	blood vessel
25	chr1:85764400-85768000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:85764400-85769000	Weak transcription	Fetal Stomach	stomach
27	chr1:85764400-85774000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:85764600-85765000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:85764600-85765400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:85764600-85765400	Weak transcription	Aorta	Aorta
31	chr1:85764600-85765600	Enhancers	HSMM	muscle
32	chr1:85764800-85765000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:85764800-85766200	Weak transcription	Fetal Intestine Small	intestine
34	chr1:85764800-85768800	Weak transcription	Adipose Nuclei	Adipose
35	chr1:85764800-85770400	Weak transcription	NHDF-Ad	bronchial

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