Variant report

Variant	rs12205870
Chromosome Location	chr6:101218216-101218217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12196997	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209756	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17672112	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2895068	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv886445	chr6:101004751-101240763	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv886456	chr6:101049108-101277926	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv604275	chr6:101158950-101277926	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1016353	chr6:101172705-101304041	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1024526	chr6:101192726-101241291	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12205870	ASCC3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101184400-101304600	Weak transcription	Hela-S3	cervix
2	chr6:101191400-101277000	Weak transcription	Esophagus	oesophagus
3	chr6:101208400-101221400	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:101211800-101222800	Weak transcription	Fetal Stomach	stomach
5	chr6:101211800-101223400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:101211800-101231800	Weak transcription	Pancreas	Pancrea
7	chr6:101212000-101222600	Weak transcription	NHEK	skin
8	chr6:101212000-101246400	Weak transcription	Psoas Muscle	Psoas
9	chr6:101212000-101276200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:101212000-101281400	Weak transcription	Aorta	Aorta
11	chr6:101212400-101219600	Weak transcription	K562	blood
12	chr6:101213200-101227400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:101213200-101242800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:101213400-101224000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:101213400-101244000	Weak transcription	HSMMtube	muscle
16	chr6:101213600-101241600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:101213600-101256000	Weak transcription	Ovary	ovary
18	chr6:101213600-101281600	Weak transcription	Gastric	stomach
19	chr6:101213800-101224400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:101213800-101237000	Weak transcription	Primary T cells from cord blood	blood
21	chr6:101213800-101250800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:101213800-101254200	Weak transcription	Fetal Thymus	thymus
23	chr6:101214000-101218800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr6:101214000-101218800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:101214600-101218800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:101214600-101236400	Weak transcription	GM12878-XiMat	blood
27	chr6:101214800-101281600	Weak transcription	Left Ventricle	heart
28	chr6:101215200-101218800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:101215200-101220400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:101215200-101222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:101215200-101222400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:101215200-101222600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:101215200-101224800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:101215200-101225200	Weak transcription	HUVEC	blood vessel
35	chr6:101215200-101225400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:101215200-101225400	Weak transcription	A549	lung
37	chr6:101215200-101228200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:101215200-101237000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:101215200-101237400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:101215200-101242200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr6:101215200-101244000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr6:101215200-101244000	Weak transcription	Liver	Liver
43	chr6:101215200-101244000	Weak transcription	Placenta	Placenta
44	chr6:101215200-101247000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr6:101215200-101252600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:101215200-101256200	Weak transcription	Osteobl	bone
47	chr6:101215200-101263000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:101215200-101311400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:101215400-101218800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:101215400-101220000	Weak transcription	Fetal Intestine Small	intestine

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