Variant report

Variant	rs12137711
Chromosome Location	chr1:97700589-97700590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12116905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12120068	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12120514	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12124488	0.85[GIH][hapmap]
rs12125127	0.90[CEU][hapmap];0.91[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs12128564	0.90[CEU][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs12133176	0.90[CEU][hapmap];0.91[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs12137174	0.85[EUR][1000 genomes]
rs12729191	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34346385	0.88[EUR][1000 genomes]
rs71656172	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71656174	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv932936	chr1:97700205-97700750	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97691400-97701000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:97691400-97702600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:97692800-97703400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:97693000-97701800	Weak transcription	Fetal Lung	lung
5	chr1:97693200-97700800	Weak transcription	Pancreas	Pancrea
6	chr1:97694800-97701000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:97694800-97712800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:97696000-97701000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:97697000-97711000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:97697200-97710800	Weak transcription	Osteobl	bone
11	chr1:97697400-97700600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:97697400-97700600	Strong transcription	Dnd41	blood
13	chr1:97697400-97711400	Weak transcription	Brain Anterior Caudate	brain
14	chr1:97697800-97700600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:97697800-97700600	Weak transcription	Thymus	Thymus
16	chr1:97697800-97704000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:97698000-97708000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:97698200-97700600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:97698200-97701000	Weak transcription	Right Ventricle	heart
20	chr1:97698400-97700600	Strong transcription	HSMM	muscle
21	chr1:97698400-97700800	Strong transcription	Primary B cells from cord blood	blood
22	chr1:97698600-97700600	Strong transcription	Primary T cells from cord blood	blood
23	chr1:97698600-97700600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:97698600-97700600	Strong transcription	Left Ventricle	heart
25	chr1:97698600-97700800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:97698800-97700600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:97698800-97700600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:97698800-97700800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:97699200-97700800	Weak transcription	Fetal Brain Female	brain
30	chr1:97699200-97701000	Weak transcription	Gastric	stomach
31	chr1:97699200-97702000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:97699200-97702000	Weak transcription	Aorta	Aorta
33	chr1:97699200-97704000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:97699200-97710800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:97699400-97701000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:97699400-97701200	Weak transcription	Esophagus	oesophagus
37	chr1:97699400-97701400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:97699400-97701800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:97699400-97702000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:97699400-97706800	Weak transcription	Ovary	ovary
41	chr1:97699400-97709400	Weak transcription	Brain Substantia Nigra	brain
42	chr1:97699400-97710800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:97699400-97711000	Weak transcription	Fetal Intestine Large	intestine
44	chr1:97699400-97723600	Weak transcription	Lung	lung
45	chr1:97699600-97701200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:97699600-97701600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:97699600-97702600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:97699600-97710000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:97699600-97711000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:97699600-97711200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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