Variant report

Variant	rs71513558
Chromosome Location	chr8:52779001-52779002
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	chr8:52778955..52782186-chr8:52783588..52785902,4	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs13250133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13253956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13262316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13263610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13263767	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13264394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13267912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13270817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13272813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13274476	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13277070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13279973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17196182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17196300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17196343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17210431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17210466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17282351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34011046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34070508	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34152859	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34424720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34461077	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34724314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34837796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34934450	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34949360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35025549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35038146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35098517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35254751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35314611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35448466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35822658	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35918180	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35933421	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36100144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71513545	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71513547	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71513550	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71513551	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71513553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71513559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71513560	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71513562	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71513563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer 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 target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv526922	chr8:52772515-52786791	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52733200-52783800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:52739800-52782600	Weak transcription	K562	blood
3	chr8:52759000-52786200	Weak transcription	Lung	lung
4	chr8:52759200-52786200	Weak transcription	Spleen	Spleen
5	chr8:52763800-52781800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:52764000-52779400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:52764000-52781800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:52764000-52783600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:52764000-52793400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:52764200-52782400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:52767400-52796600	Weak transcription	Fetal Brain Male	brain
12	chr8:52768600-52780200	Weak transcription	Fetal Intestine Small	intestine
13	chr8:52769800-52781200	Weak transcription	Hela-S3	cervix
14	chr8:52769800-52782600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:52769800-52785200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:52769800-52793600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:52771000-52797800	Weak transcription	Fetal Stomach	stomach
18	chr8:52771800-52779200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:52771800-52782600	Weak transcription	NHLF	lung
20	chr8:52771800-52786200	Weak transcription	Gastric	stomach
21	chr8:52771800-52797000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:52771800-52810800	Weak transcription	Esophagus	oesophagus
23	chr8:52772000-52781800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:52772000-52783800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:52772000-52783800	Weak transcription	Ovary	ovary
26	chr8:52772200-52782600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:52772200-52807600	Weak transcription	HSMMtube	muscle
28	chr8:52772400-52780200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:52772400-52782600	Weak transcription	HSMM	muscle
30	chr8:52772400-52793200	Weak transcription	Fetal Heart	heart
31	chr8:52772600-52782600	Weak transcription	NH-A	brain
32	chr8:52772600-52786000	Weak transcription	Pancreas	Pancrea
33	chr8:52772800-52781800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:52772800-52782600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:52772800-52782600	Weak transcription	HUVEC	blood vessel
36	chr8:52773000-52779200	Weak transcription	HepG2	liver
37	chr8:52773000-52781800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr8:52773000-52786000	Weak transcription	Psoas Muscle	Psoas
39	chr8:52773000-52791200	Weak transcription	Thymus	Thymus
40	chr8:52773000-52803200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:52773200-52781800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:52773200-52782600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:52773200-52782600	Weak transcription	NHEK	skin
44	chr8:52773600-52780200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:52773600-52780400	Weak transcription	Fetal Thymus	thymus
46	chr8:52773600-52782400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr8:52773600-52797000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:52773600-52797200	Weak transcription	Placenta	Placenta
49	chr8:52773800-52779800	Weak transcription	Dnd41	blood
50	chr8:52773800-52780200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links