Variant report

Variant	rs11161588
Chromosome Location	chr1:85763861-85763862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:85749046..85750633-chr1:85762550..85764721,2	K562	blood:
2	chr1:85763329..85765348-chr1:86045622..86047839,3	MCF-7	breast:
3	chr1:85763770..85765499-chr1:85767346..85769408,2	MCF-7	breast:
4	chr1:85740595..85746052-chr1:85759606..85765261,11	MCF-7	breast:
5	chr1:85761882..85764422-chr1:85771708..85774454,2	MCF-7	breast:
6	chr1:85761848..85764008-chr1:87580621..87583123,2	K562	blood:
7	chr1:85743301..85744936-chr1:85762613..85765116,2	MCF-7	breast:
8	chr1:85763262..85763881-chr7:99268277..99268777,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142867	Chromatin interaction
ENSG00000142871	Chromatin interaction
ENSG00000264380	Chromatin interaction
ENSG00000223653	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10747317	0.90[CHB][hapmap]
rs10782542	0.80[CHB][hapmap]
rs10782543	0.90[CHB][hapmap]
rs11161573	1.00[CHB][hapmap]
rs11161585	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11161586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11161592	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];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11576939	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs11580090	0.84[ASN][1000 genomes]
rs11583827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11585614	0.86[ASN][1000 genomes]
rs11587512	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];0.98[ASN][1000 genomes]
rs11590047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12061305	0.85[ASN][1000 genomes]
rs12061512	0.83[ASN][1000 genomes]
rs12093484	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12405767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12754032	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17125445	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2012099	0.82[ASN][1000 genomes]
rs34743622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4949927	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs4949928	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs57483398	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60325409	0.81[ASN][1000 genomes]
rs61771982	0.87[ASN][1000 genomes]
rs6668948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6670921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7554249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9432848	0.90[CHB][hapmap]

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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
2	chr1:85748600-85764000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:85759600-85765200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:85762600-85764000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:85762600-85764600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:85762600-85764600	Enhancers	Stomach Mucosa	stomach
7	chr1:85762800-85764200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:85762800-85764200	Flanking Active TSS	NHEK	skin
9	chr1:85762800-85764400	Enhancers	Fetal Muscle Leg	muscle
10	chr1:85762800-85764600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:85762800-85764600	Enhancers	Aorta	Aorta
12	chr1:85762800-85764600	Enhancers	Esophagus	oesophagus
13	chr1:85762800-85764600	Enhancers	Fetal Thymus	thymus
14	chr1:85762800-85764600	Enhancers	Pancreas	Pancrea
15	chr1:85762800-85765400	Enhancers	HSMMtube	muscle
16	chr1:85762800-85765600	Enhancers	Lung	lung
17	chr1:85763000-85764000	Weak transcription	Brain Angular Gyrus	brain
18	chr1:85763000-85764000	Flanking Active TSS	HMEC	breast
19	chr1:85763000-85764000	Flanking Active TSS	NH-A	brain
20	chr1:85763000-85764200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:85763000-85764400	Enhancers	Ovary	ovary
22	chr1:85763000-85764400	Flanking Active TSS	Hela-S3	cervix
23	chr1:85763000-85764400	Flanking Active TSS	Osteobl	bone
24	chr1:85763000-85764600	Enhancers	Placenta	Placenta
25	chr1:85763000-85764800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr1:85763000-85765000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:85763000-85765000	Enhancers	Primary B cells from peripheral blood	blood
28	chr1:85763000-85765000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:85763000-85765000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:85763000-85765200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr1:85763200-85764000	Enhancers	Fetal Kidney	kidney
32	chr1:85763200-85764000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr1:85763200-85764000	Flanking Active TSS	NHLF	lung
34	chr1:85763200-85764200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr1:85763200-85764200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:85763200-85764200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:85763200-85764200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:85763200-85764200	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr1:85763200-85764200	Flanking Active TSS	NHDF-Ad	bronchial
40	chr1:85763200-85764400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:85763200-85764400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:85763200-85764800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:85763200-85764800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr1:85763200-85765000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:85763400-85764000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:85763400-85764000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:85763400-85764200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:85763400-85764200	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr1:85763400-85764200	Flanking Active TSS	Fetal Lung	lung
50	chr1:85763400-85764200	Flanking Active TSS	A549	lung

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