Variant report

Variant	rs7608180
Chromosome Location	chr2:191443403-191443404
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191398265..191400874-chr2:191441463..191447520,6	MCF-7	breast:
2	chr2:191441736..191445180-chr2:191512153..191514967,3	K562	blood:

Variant related genes	Relation type
ENSG00000189362	Chromatin interaction
ENSG00000138386	Chromatin interaction
ENSG00000233654	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10451566	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11897266	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12464923	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12472240	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12473460	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12613365	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12615925	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12619125	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12619560	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12621493	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12622496	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12693576	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12987797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13013848	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13019278	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13028201	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13029743	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13391723	0.83[CHB][hapmap]
rs34274882	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34417560	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34825614	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36055519	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3811609	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4073873	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4129081	0.95[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs4264585	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4324342	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4853508	0.85[EUR][1000 genomes]
rs4853512	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4853718	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4853720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4853721	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55754136	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55987230	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6434400	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6707773	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6711006	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72911109	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7560318	0.95[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs7601745	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191436800-191457000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:191440800-191445200	Enhancers	Fetal Heart	heart
3	chr2:191441400-191443600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:191441400-191444000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr2:191441800-191443600	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr2:191441800-191444600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:191442200-191444000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr2:191442200-191444200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:191442400-191444200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:191442400-191444200	Enhancers	Primary T cells from cord blood	blood
11	chr2:191442400-191444200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:191442600-191443800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:191442600-191444000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:191442600-191444000	Enhancers	Fetal Stomach	stomach
15	chr2:191442600-191444200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:191442600-191445600	Enhancers	Stomach Mucosa	stomach
17	chr2:191442800-191443600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr2:191442800-191443600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:191442800-191443600	Flanking Active TSS	Hela-S3	cervix
20	chr2:191442800-191443800	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:191442800-191443800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:191442800-191443800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr2:191442800-191443800	Enhancers	Fetal Muscle Leg	muscle
24	chr2:191442800-191443800	Enhancers	Thymus	Thymus
25	chr2:191442800-191443800	Enhancers	Osteobl	bone
26	chr2:191442800-191444000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:191442800-191444000	Enhancers	Primary B cells from peripheral blood	blood
28	chr2:191442800-191444000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:191442800-191444000	Enhancers	Adipose Nuclei	Adipose
30	chr2:191442800-191444000	Enhancers	Brain Hippocampus Middle	brain
31	chr2:191442800-191444000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr2:191442800-191444000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:191442800-191444000	Enhancers	Brain Substantia Nigra	brain
34	chr2:191442800-191444000	Enhancers	Fetal Brain Male	brain
35	chr2:191442800-191444000	Enhancers	Ovary	ovary
36	chr2:191442800-191444000	Enhancers	Small Intestine	intestine
37	chr2:191442800-191444000	Enhancers	NHDF-Ad	bronchial
38	chr2:191442800-191444000	Flanking Active TSS	NHEK	skin
39	chr2:191442800-191444200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:191442800-191444200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:191442800-191444200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:191442800-191444200	Enhancers	Brain Angular Gyrus	brain
43	chr2:191442800-191444200	Enhancers	Brain Cingulate Gyrus	brain
44	chr2:191442800-191444200	Enhancers	Stomach Smooth Muscle	stomach
45	chr2:191442800-191444400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:191442800-191444600	Enhancers	Fetal Lung	lung
47	chr2:191442800-191444800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:191442800-191444800	Enhancers	Fetal Intestine Large	intestine
49	chr2:191442800-191445000	Enhancers	Fetal Intestine Small	intestine
50	chr2:191443000-191443600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links