Variant report

Variant	rs12639070
Chromosome Location	chr3:119131320-119131321
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	chr3:119130788..119134912-chr3:119135156..119139620,7	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1132202	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11556604	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12631504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16829809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17281612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17281647	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17281703	0.82[EUR][1000 genomes]
rs2282173	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2282175	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57509340	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58968288	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59333081	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59551807	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60375691	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60588168	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61740281	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6772534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6782411	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6800924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72968474	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9809960	0.83[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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv3962	chr3:119094646-119135321	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv997290	chr3:119127141-119135667	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119072000-119133800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
3	chr3:119081200-119135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:119082800-119138000	Weak transcription	Small Intestine	intestine
5	chr3:119085200-119139000	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:119088000-119134200	Weak transcription	NHDF-Ad	bronchial
7	chr3:119097000-119132600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:119098000-119136800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:119098400-119138200	Strong transcription	Adipose Nuclei	Adipose
10	chr3:119098600-119137400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:119100000-119132600	Weak transcription	Primary B cells from cord blood	blood
12	chr3:119102600-119133200	Weak transcription	NHLF	lung
13	chr3:119102600-119134800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:119106800-119137400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:119109200-119136400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr3:119110200-119140800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:119110400-119132200	Weak transcription	Brain Substantia Nigra	brain
18	chr3:119111800-119132600	Weak transcription	Thymus	Thymus
19	chr3:119112000-119132600	Weak transcription	Fetal Intestine Small	intestine
20	chr3:119112000-119132600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:119112000-119147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:119112200-119138800	Weak transcription	Colonic Mucosa	Colon
23	chr3:119112400-119132800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr3:119113200-119140400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr3:119113400-119138000	Strong transcription	Fetal Stomach	stomach
26	chr3:119114600-119132200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:119116400-119132400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:119116600-119133400	Strong transcription	Left Ventricle	heart
29	chr3:119118600-119133200	Weak transcription	Fetal Intestine Large	intestine
30	chr3:119119000-119138800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr3:119121200-119132800	Weak transcription	Pancreas	Pancrea
32	chr3:119121200-119150000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:119121400-119132400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:119121400-119132600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:119121400-119135800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:119121400-119136000	Weak transcription	Esophagus	oesophagus
37	chr3:119123000-119136200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr3:119123400-119132600	Weak transcription	Brain Hippocampus Middle	brain
39	chr3:119124400-119132600	Weak transcription	Gastric	stomach
40	chr3:119124400-119134400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:119124600-119135000	Weak transcription	Brain Angular Gyrus	brain
42	chr3:119125600-119132600	Weak transcription	HSMMtube	muscle
43	chr3:119127000-119135200	Strong transcription	Fetal Muscle Leg	muscle
44	chr3:119127200-119138200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:119127400-119131400	Strong transcription	Lung	lung
46	chr3:119127600-119131400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:119127600-119136200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr3:119128000-119131600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:119128000-119135800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr3:119128200-119131400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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