Variant report

Variant	rs12082507
Chromosome Location	chr1:212404763-212404764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212404572..212406195-chr1:212406455..212408125,2	K562	blood:
2	chr1:212404478..212406479-chr1:212423764..212425331,2	K562	blood:

Variant related genes	Relation type
ENSG00000226251	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11119889	0.85[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119896	0.85[CEU][hapmap];0.91[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119905	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119914	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119915	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804839	1.00[ASN][1000 genomes]
rs12060363	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069850	1.00[ASN][1000 genomes]
rs12073991	0.85[CEU][hapmap];0.90[TSI][hapmap];1.00[ASN][1000 genomes]
rs12076639	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081752	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084885	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087923	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090051	0.84[EUR][1000 genomes]
rs17018845	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17018933	0.85[CEU][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs17042040	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351394	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351396	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351399	0.85[CEU][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351402	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351409	0.82[EUR][1000 genomes]
rs376547	1.00[ASN][1000 genomes]
rs404987	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411278	0.85[CEU][hapmap];0.90[TSI][hapmap];1.00[ASN][1000 genomes]
rs57056017	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57737965	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66522154	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658490	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611603	1.00[ASN][1000 genomes]
rs6666970	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66832725	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66987133	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67053561	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67947916	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752328	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752361	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752367	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752370	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752373	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752376	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752377	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752384	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752391	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752396	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754304	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754308	1.00[ASN][1000 genomes]
rs72754311	1.00[ASN][1000 genomes]
rs72754313	1.00[ASN][1000 genomes]
rs72754324	1.00[ASN][1000 genomes]
rs72754335	1.00[ASN][1000 genomes]
rs72754344	1.00[ASN][1000 genomes]
rs72754346	1.00[ASN][1000 genomes]
rs72754358	1.00[ASN][1000 genomes]
rs7513727	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519459	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523303	0.85[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526983	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527666	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538428	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544944	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549717	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212392600-212404800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:212399400-212405200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:212399600-212404800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:212399800-212405200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:212399800-212406600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:212399800-212407800	Weak transcription	Brain Anterior Caudate	brain
7	chr1:212400000-212404800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:212400000-212405000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:212400000-212405200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:212400000-212405200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:212400000-212405200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:212400000-212405200	Weak transcription	Fetal Thymus	thymus
13	chr1:212400000-212407600	Weak transcription	Spleen	Spleen
14	chr1:212400000-212407800	Weak transcription	Right Atrium	heart
15	chr1:212400000-212407800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:212400200-212405400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:212400200-212406800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:212401400-212408400	Weak transcription	Lung	lung
19	chr1:212401600-212405000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:212401800-212409000	Weak transcription	Gastric	stomach
21	chr1:212402400-212404800	Weak transcription	Left Ventricle	heart
22	chr1:212402400-212407800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:212402800-212405800	Enhancers	Stomach Mucosa	stomach
24	chr1:212403200-212404800	Weak transcription	Fetal Heart	heart
25	chr1:212403400-212405600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:212403400-212409000	Weak transcription	Fetal Intestine Large	intestine
27	chr1:212403600-212407000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:212403600-212407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:212403600-212408200	Weak transcription	Small Intestine	intestine
30	chr1:212403600-212409600	Weak transcription	Liver	Liver
31	chr1:212403800-212407600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:212403800-212407600	Weak transcription	NHDF-Ad	bronchial
33	chr1:212403800-212407600	Weak transcription	Osteobl	bone
34	chr1:212404000-212407200	Weak transcription	Right Ventricle	heart
35	chr1:212404400-212405200	Enhancers	HepG2	liver
36	chr1:212404400-212405800	Enhancers	K562	blood
37	chr1:212404600-212405600	Enhancers	Esophagus	oesophagus
38	chr1:212404600-212405600	Enhancers	Pancreas	Pancrea
39	chr1:212404600-212405800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:212404600-212407800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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