Variant report

Variant	rs6601531
Chromosome Location	chr8:10681622-10681623
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	chr8:10674524..10677009-chr8:10677940..10682794,6	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1052523	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11997941	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13256603	0.88[EUR][1000 genomes]
rs13256636	0.88[EUR][1000 genomes]
rs13273767	0.80[EUR][1000 genomes]
rs13275368	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13277664	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13279753	0.80[EUR][1000 genomes]
rs13280573	0.98[EUR][1000 genomes]
rs17152398	0.80[EUR][1000 genomes]
rs17152442	0.95[EUR][1000 genomes]
rs17152492	0.98[EUR][1000 genomes]
rs17721019	0.85[EUR][1000 genomes]
rs2409653	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898244	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898246	0.95[EUR][1000 genomes]
rs34349857	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34535545	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35039898	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35660623	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35873156	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61064518	0.85[EUR][1000 genomes]
rs6601532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982062	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6983180	0.95[EUR][1000 genomes]
rs6989930	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990041	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992312	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6993463	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6993632	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6993753	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7005389	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7006707	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7009841	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7015820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71516595	0.80[EUR][1000 genomes]
rs73529608	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73531562	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7814489	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9969476	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10648200-10683400	Weak transcription	Brain Angular Gyrus	brain
2	chr8:10657400-10685800	Weak transcription	Psoas Muscle	Psoas
3	chr8:10657600-10681800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:10659600-10682400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:10665800-10688200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:10666400-10695200	Strong transcription	Primary T cells from cord blood	blood
8	chr8:10666800-10692400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:10667600-10693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:10668400-10682400	Weak transcription	Colonic Mucosa	Colon
11	chr8:10668400-10696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:10669200-10692800	Strong transcription	Primary B cells from cord blood	blood
13	chr8:10669400-10692200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr8:10669600-10691800	Strong transcription	GM12878-XiMat	blood
15	chr8:10669600-10692800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:10670200-10692000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:10670400-10692800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:10671400-10692000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:10673000-10686800	Strong transcription	Fetal Thymus	thymus
20	chr8:10673000-10692000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr8:10673200-10682600	Weak transcription	Fetal Brain Male	brain
22	chr8:10673200-10683000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:10673200-10686600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:10673200-10692200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr8:10673200-10692400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:10673400-10684600	Weak transcription	Small Intestine	intestine
27	chr8:10673800-10683400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:10673800-10684000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr8:10673800-10692000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:10674000-10690200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:10674400-10692000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr8:10674400-10692800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:10674600-10692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:10674600-10692000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:10674600-10692000	Strong transcription	Fetal Muscle Leg	muscle
36	chr8:10674600-10692200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:10674600-10692200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:10674600-10693200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:10674800-10696200	Weak transcription	Stomach Mucosa	stomach
40	chr8:10675000-10681800	Weak transcription	Right Ventricle	heart
41	chr8:10675000-10693000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:10676200-10686400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:10676200-10696200	Weak transcription	Fetal Heart	heart
44	chr8:10676400-10681800	Weak transcription	Brain Substantia Nigra	brain
45	chr8:10676600-10681800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:10676600-10681800	Weak transcription	Gastric	stomach
47	chr8:10676600-10681800	Weak transcription	Spleen	Spleen
48	chr8:10676600-10684000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:10676600-10684200	Weak transcription	Esophagus	oesophagus
50	chr8:10676600-10685600	Weak transcription	Brain Germinal Matrix	brain

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