Variant report

Variant	rs831508
Chromosome Location	chr6:37016218-37016219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37013215..37030579-chr6:37135643..37146812,60	K562	blood:
2	chr6:37015361..37021664-chr6:37022049..37027809,14	K562	blood:
3	chr6:37005917..37007754-chr6:37015000..37017785,2	K562	blood:
4	chr6:37013215..37030665-chr6:37134901..37148307,66	K562	blood:
5	chr6:37014703..37016638-chr6:37036621..37038696,2	K562	blood:
6	chr6:37014868..37029815-chr6:37135131..37143827,44	MCF-7	breast:
7	chr6:36996688..36999703-chr6:37014680..37019381,6	K562	blood:
8	chr6:36993956..36998841-chr6:37016055..37021281,5	K562	blood:
9	chr6:37015294..37018707-chr6:37173927..37177925,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10947654	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10947655	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1224492	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1224493	0.92[CEU][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1724092	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1724093	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1753297	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1753299	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2692878	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2692879	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4714033	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6457968	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6457969	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6457970	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6457971	0.85[EUR][1000 genomes]
rs6917839	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6922840	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6940573	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6940597	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7751883	0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7752115	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs831481	0.87[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];0.86[YRI][hapmap];0.83[ASN][1000 genomes]
rs831482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs831483	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs831485	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs831486	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs831488	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs831490	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs864396	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs864590	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs913502	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9357233	0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9380636	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9394399	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9462254	0.82[EUR][1000 genomes]
rs9470464	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9765964	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs831508	KCNK16	cis	parietal	SCAN
rs831508	PIM1	cis	lymphoblastoid	seeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36993800-37018200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:37006800-37016800	Weak transcription	Right Atrium	heart
3	chr6:37013200-37016400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr6:37013200-37016600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:37013200-37017000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:37013600-37016600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr6:37013600-37016800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:37013600-37016800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:37013600-37016800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:37013800-37016800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr6:37013800-37017600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr6:37013800-37017600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:37013800-37017600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:37013800-37017800	Enhancers	Primary T cells from cord blood	blood
15	chr6:37013800-37020000	Enhancers	Pancreas	Pancrea
16	chr6:37013800-37020200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:37013800-37020400	Enhancers	Fetal Thymus	thymus
18	chr6:37014200-37016800	Weak transcription	Esophagus	oesophagus
19	chr6:37014800-37020000	Enhancers	Primary hematopoietic stem cells	blood
20	chr6:37015000-37016800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:37015000-37017000	Enhancers	Primary B cells from peripheral blood	blood
22	chr6:37015000-37017800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:37015200-37016800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:37015200-37017600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:37015200-37017800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:37015200-37020400	Enhancers	Fetal Muscle Leg	muscle
27	chr6:37015400-37016600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:37015400-37016800	Enhancers	Primary B cells from cord blood	blood
29	chr6:37015400-37017000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr6:37015400-37018200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:37015600-37016800	Enhancers	GM12878-XiMat	blood
32	chr6:37015600-37017400	Enhancers	Thymus	Thymus
33	chr6:37015800-37016400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:37015800-37016400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr6:37015800-37017000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr6:37015800-37017200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:37015800-37017400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:37015800-37017400	Enhancers	Hela-S3	cervix
39	chr6:37015800-37018400	Enhancers	Fetal Muscle Trunk	muscle
40	chr6:37015800-37020200	Enhancers	Spleen	Spleen
41	chr6:37016000-37016800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:37016000-37016800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:37016000-37017200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:37016000-37017200	Enhancers	HSMMtube	muscle
45	chr6:37016000-37017400	Enhancers	Small Intestine	intestine
46	chr6:37016000-37017400	Enhancers	NHEK	skin
47	chr6:37016000-37018600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:37016000-37020200	Flanking Active TSS	K562	blood
49	chr6:37016000-37020400	Enhancers	Placenta	Placenta
50	chr6:37016200-37016400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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