Variant report

Variant	rs2036124
Chromosome Location	chr6:37955944-37955945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37919246..37922240-chr6:37953708..37956298,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11544071	0.83[EUR][1000 genomes]
rs11751393	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11752354	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11753390	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11753809	0.98[EUR][1000 genomes]
rs11755262	0.87[EUR][1000 genomes]
rs11755592	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757086	0.90[EUR][1000 genomes]
rs11757371	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs11757622	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11757695	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11759754	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16890175	0.82[CEU][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs16890376	1.00[CEU][hapmap]
rs17512095	0.90[EUR][1000 genomes]
rs17641690	0.83[EUR][1000 genomes]
rs17648097	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17648426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17648634	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17648699	0.85[EUR][1000 genomes]
rs17649257	1.00[AFR][1000 genomes]
rs55753048	0.80[EUR][1000 genomes]
rs56093219	0.80[EUR][1000 genomes]
rs56100831	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56136126	0.98[EUR][1000 genomes]
rs59810748	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60672298	0.83[EUR][1000 genomes]
rs60943435	0.90[EUR][1000 genomes]
rs60977329	0.90[EUR][1000 genomes]
rs61125348	0.84[EUR][1000 genomes]
rs61271738	1.00[ASN][1000 genomes]
rs61521259	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61705055	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs68148876	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6910601	0.85[EUR][1000 genomes]
rs6925259	0.87[EUR][1000 genomes]
rs72849339	0.80[EUR][1000 genomes]
rs72849341	0.80[EUR][1000 genomes]
rs72849350	0.83[EUR][1000 genomes]
rs72849354	0.83[EUR][1000 genomes]
rs72849359	0.83[EUR][1000 genomes]
rs72849369	0.86[EUR][1000 genomes]
rs72850806	0.97[EUR][1000 genomes]
rs72850831	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72850855	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72850856	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72850871	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72850884	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72850893	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72852516	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72852536	0.87[EUR][1000 genomes]
rs7739801	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7747199	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7767466	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs994530	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]

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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37922800-37957600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:37922800-37958600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:37942800-37956800	Weak transcription	Aorta	Aorta
4	chr6:37948000-37956800	Weak transcription	Pancreas	Pancrea
5	chr6:37948400-37957600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:37948400-37958600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:37948600-37957800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:37949800-37956800	Weak transcription	Right Atrium	heart
9	chr6:37949800-37962000	Weak transcription	Small Intestine	intestine
10	chr6:37950000-37963600	Weak transcription	Spleen	Spleen
11	chr6:37950400-37956000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:37950400-37957000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:37950400-37958800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr6:37951800-37959800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:37952200-37961400	Enhancers	Liver	Liver
16	chr6:37952600-37957800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:37952600-37958600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:37953400-37956000	Weak transcription	K562	blood
19	chr6:37953400-37957200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr6:37953400-37958600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:37953400-37960400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:37953400-37962600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:37953400-37962600	Weak transcription	Lung	lung
24	chr6:37953400-37965200	Weak transcription	Esophagus	oesophagus
25	chr6:37953600-37957200	Enhancers	HepG2	liver
26	chr6:37953600-37958600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:37953800-37956600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr6:37953800-37956600	Enhancers	Stomach Mucosa	stomach
29	chr6:37953800-37957600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr6:37954000-37956800	Enhancers	Osteobl	bone
31	chr6:37954000-37958000	Enhancers	Fetal Lung	lung
32	chr6:37954000-37958800	Enhancers	Brain Anterior Caudate	brain
33	chr6:37954000-37959600	Enhancers	HSMMtube	muscle
34	chr6:37954000-37960200	Enhancers	Colon Smooth Muscle	Colon
35	chr6:37954000-37960600	Enhancers	HSMM	muscle
36	chr6:37954200-37956000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:37954200-37956600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:37954200-37957200	Enhancers	NH-A	brain
39	chr6:37954200-37957400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:37954200-37963000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:37954400-37956000	Weak transcription	GM12878-XiMat	blood
42	chr6:37954400-37956400	Enhancers	A549	lung
43	chr6:37954400-37956800	Weak transcription	Psoas Muscle	Psoas
44	chr6:37954400-37957200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:37954400-37960200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:37954600-37957800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr6:37954600-37960200	Enhancers	NHLF	lung
48	chr6:37954800-37956000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:37954800-37956400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:37954800-37956600	Enhancers	Duodenum Smooth Muscle	Duodenum

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