Variant report

Variant	rs11161587
Chromosome Location	chr1:85763728-85763729
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr1:85740595..85746052-chr1:85759606..85765261,11	MCF-7	breast:
4	chr1:85761882..85764422-chr1:85771708..85774454,2	MCF-7	breast:
5	chr1:85761848..85764008-chr1:87580621..87583123,2	K562	blood:
6	chr1:85743301..85744936-chr1:85762613..85765116,2	MCF-7	breast:
7	chr1:85763262..85763881-chr7:99268277..99268777,2	MCF-7	breast:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1060843	0.85[YRI][hapmap]
rs11161581	0.87[YRI][hapmap]
rs12065528	0.87[YRI][hapmap];0.80[ASN][1000 genomes]
rs12066982	0.80[ASN][1000 genomes]
rs12068389	0.80[ASN][1000 genomes]
rs12084232	0.80[ASN][1000 genomes]
rs12086970	0.80[ASN][1000 genomes]
rs12087340	0.87[YRI][hapmap];0.80[ASN][1000 genomes]
rs12095675	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12098111	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];1.00[ASN][1000 genomes]
rs12098220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563515	0.85[YRI][hapmap]
rs12726649	0.85[YRI][hapmap]
rs35783363	0.80[ASN][1000 genomes]
rs4074156	0.87[YRI][hapmap]
rs6693229	0.80[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:82 , 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	chr1:85750800-85763800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:85759600-85765200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:85762600-85764000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:85762600-85764600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:85762600-85764600	Enhancers	Stomach Mucosa	stomach
8	chr1:85762800-85763800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:85762800-85764200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:85762800-85764200	Flanking Active TSS	NHEK	skin
11	chr1:85762800-85764400	Enhancers	Fetal Muscle Leg	muscle
12	chr1:85762800-85764600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:85762800-85764600	Enhancers	Aorta	Aorta
14	chr1:85762800-85764600	Enhancers	Esophagus	oesophagus
15	chr1:85762800-85764600	Enhancers	Fetal Thymus	thymus
16	chr1:85762800-85764600	Enhancers	Pancreas	Pancrea
17	chr1:85762800-85765400	Enhancers	HSMMtube	muscle
18	chr1:85762800-85765600	Enhancers	Lung	lung
19	chr1:85763000-85763800	Enhancers	Adipose Nuclei	Adipose
20	chr1:85763000-85764000	Weak transcription	Brain Angular Gyrus	brain
21	chr1:85763000-85764000	Flanking Active TSS	HMEC	breast
22	chr1:85763000-85764000	Flanking Active TSS	NH-A	brain
23	chr1:85763000-85764200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:85763000-85764400	Enhancers	Ovary	ovary
25	chr1:85763000-85764400	Flanking Active TSS	Hela-S3	cervix
26	chr1:85763000-85764400	Flanking Active TSS	Osteobl	bone
27	chr1:85763000-85764600	Enhancers	Placenta	Placenta
28	chr1:85763000-85764800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:85763000-85765000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:85763000-85765000	Enhancers	Primary B cells from peripheral blood	blood
31	chr1:85763000-85765000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr1:85763000-85765000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:85763000-85765200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr1:85763200-85763800	Flanking Active TSS	HSMM	muscle
35	chr1:85763200-85764000	Enhancers	Fetal Kidney	kidney
36	chr1:85763200-85764000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr1:85763200-85764000	Flanking Active TSS	NHLF	lung
38	chr1:85763200-85764200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr1:85763200-85764200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:85763200-85764200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:85763200-85764200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr1:85763200-85764200	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr1:85763200-85764200	Flanking Active TSS	NHDF-Ad	bronchial
44	chr1:85763200-85764400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:85763200-85764400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr1:85763200-85764800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:85763200-85764800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr1:85763200-85765000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:85763400-85763800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:85763400-85763800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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