Variant report

Variant	rs12191440
Chromosome Location	chr6:37958983-37958984
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	chr6:37956692..37960891-chr6:37962737..37966006,6	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12194872	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12196555	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12524157	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1390735	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1472364	0.94[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259692	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4711519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6933547	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv602956	chr6:37909084-37986489	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2761037	chr6:37930659-37966762	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37949800-37962000	Weak transcription	Small Intestine	intestine
2	chr6:37950000-37963600	Weak transcription	Spleen	Spleen
3	chr6:37951800-37959800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:37952200-37961400	Enhancers	Liver	Liver
5	chr6:37953400-37960400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:37953400-37962600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:37953400-37962600	Weak transcription	Lung	lung
8	chr6:37953400-37965200	Weak transcription	Esophagus	oesophagus
9	chr6:37954000-37959600	Enhancers	HSMMtube	muscle
10	chr6:37954000-37960200	Enhancers	Colon Smooth Muscle	Colon
11	chr6:37954000-37960600	Enhancers	HSMM	muscle
12	chr6:37954200-37963000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:37954400-37960200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:37954600-37960200	Enhancers	NHLF	lung
15	chr6:37955400-37959400	Enhancers	Right Ventricle	heart
16	chr6:37955400-37959600	Enhancers	Brain Substantia Nigra	brain
17	chr6:37955400-37959600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:37955400-37960400	Enhancers	Adipose Nuclei	Adipose
19	chr6:37955400-37960400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:37955400-37960400	Enhancers	Stomach Smooth Muscle	stomach
21	chr6:37955400-37960800	Enhancers	Rectal Smooth Muscle	rectum
22	chr6:37955600-37960000	Enhancers	NHDF-Ad	bronchial
23	chr6:37955600-37963800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:37956200-37961800	Weak transcription	Fetal Brain Female	brain
25	chr6:37956200-37962000	Weak transcription	Fetal Stomach	stomach
26	chr6:37956200-37965400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:37956200-37978800	Weak transcription	Primary T cells from cord blood	blood
28	chr6:37956400-37959400	Enhancers	Fetal Muscle Leg	muscle
29	chr6:37956400-37960200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:37956400-37961400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:37956600-37961800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:37956600-37961800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:37956600-37962000	Weak transcription	Brain Angular Gyrus	brain
34	chr6:37956600-37962000	Weak transcription	Fetal Kidney	kidney
35	chr6:37956600-37967200	Weak transcription	Primary B cells from cord blood	blood
36	chr6:37956800-37959400	Enhancers	Psoas Muscle	Psoas
37	chr6:37956800-37959400	Enhancers	Right Atrium	heart
38	chr6:37956800-37960200	Enhancers	GM12878-XiMat	blood
39	chr6:37956800-37961600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr6:37956800-37962000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:37957400-37959000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:37957600-37960400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr6:37957600-37961800	Weak transcription	Brain Germinal Matrix	brain
44	chr6:37957600-37962200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:37957600-37962400	Weak transcription	Pancreas	Pancrea
46	chr6:37957800-37959400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:37957800-37959400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:37957800-37959600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:37957800-37959600	Enhancers	NHEK	skin
50	chr6:37957800-37960200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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