Variant report

Variant	rs12487438
Chromosome Location	chr3:134216643-134216644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10935116	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11917363	1.00[CHB][hapmap]
rs11919447	1.00[CHB][hapmap]
rs11923513	1.00[CHB][hapmap]
rs11928672	1.00[CHB][hapmap]
rs11928742	1.00[CHB][hapmap]
rs13071132	1.00[CHB][hapmap]
rs13081059	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13084853	1.00[CHB][hapmap]
rs1498730	1.00[CHB][hapmap]
rs17312996	1.00[CHB][hapmap]
rs17313003	1.00[CHB][hapmap]
rs6768709	1.00[CHB][hapmap]
rs6772791	1.00[CHB][hapmap]
rs6809909	1.00[CHB][hapmap]
rs7636249	1.00[CHB][hapmap]
rs7637889	1.00[CHB][hapmap]
rs7638751	1.00[CHB][hapmap]
rs7642559	1.00[CHB][hapmap]
rs7647682	1.00[CHB][hapmap]
rs7647778	1.00[CHB][hapmap]
rs9826364	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134205600-134224200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:134205800-134224200	Weak transcription	Esophagus	oesophagus
3	chr3:134205800-134224200	Weak transcription	Left Ventricle	heart
4	chr3:134205800-134224200	Weak transcription	Lung	lung
5	chr3:134205800-134224400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:134206000-134224200	Weak transcription	Ovary	ovary
7	chr3:134206400-134223000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:134206400-134228000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:134206400-134234600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:134206400-134241200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:134206600-134217000	Weak transcription	Fetal Kidney	kidney
12	chr3:134206600-134226000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:134206600-134230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:134206600-134232800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:134206600-134251600	Weak transcription	Colonic Mucosa	Colon
16	chr3:134206800-134221000	Weak transcription	Brain Anterior Caudate	brain
17	chr3:134206800-134221400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:134206800-134236400	Weak transcription	Hela-S3	cervix
19	chr3:134207000-134216800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:134207000-134218800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:134207000-134220000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:134207000-134222400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr3:134207000-134222800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:134207000-134228000	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:134207000-134235400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:134207000-134235800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:134207000-134235800	Weak transcription	A549	lung
28	chr3:134207000-134235800	Weak transcription	HepG2	liver
29	chr3:134207000-134241600	Weak transcription	Psoas Muscle	Psoas
30	chr3:134207200-134224200	Weak transcription	Pancreas	Pancrea
31	chr3:134207200-134229400	Weak transcription	Small Intestine	intestine
32	chr3:134207400-134216800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr3:134207400-134226000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:134209000-134232000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr3:134210400-134222600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:134211400-134230400	Weak transcription	HUVEC	blood vessel
37	chr3:134213400-134224200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:134213400-134224200	Weak transcription	Spleen	Spleen
39	chr3:134213800-134217600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:134213800-134221200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr3:134213800-134246000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:134214000-134216800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr3:134214400-134216800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:134214400-134217000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr3:134214400-134217200	Strong transcription	Primary B cells from cord blood	blood
46	chr3:134214400-134217600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr3:134214600-134218200	Strong transcription	Primary T cells from cord blood	blood
48	chr3:134214800-134216800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr3:134214800-134220400	Weak transcription	Fetal Lung	lung
50	chr3:134214800-134226600	Weak transcription	NHDF-Ad	bronchial

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