Variant report

Variant	rs56086422
Chromosome Location	chr8:131331562-131331563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131324792..131327284-chr8:131328218..131332203,4	K562	blood:
2	chr8:131330257..131333007-chr8:131345961..131348000,2	K562	blood:
3	chr8:131324792..131327507-chr8:131328218..131332203,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1030386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676014	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12681590	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269931	0.82[ASN][1000 genomes]
rs16904220	0.89[ASN][1000 genomes]
rs16904228	0.89[ASN][1000 genomes]
rs2114197	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34387098	0.82[ASN][1000 genomes]
rs34857454	0.82[ASN][1000 genomes]
rs36004599	0.82[ASN][1000 genomes]
rs55815182	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58012966	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66488832	0.93[ASN][1000 genomes]
rs6986746	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014715	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7018391	0.82[ASN][1000 genomes]
rs7836536	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
2	chr8:131315600-131331600	Weak transcription	Thymus	Thymus
3	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:131315600-131353400	Weak transcription	Dnd41	blood
5	chr8:131319400-131333600	Weak transcription	HepG2	liver
6	chr8:131322000-131335000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:131322000-131338200	Weak transcription	Esophagus	oesophagus
8	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
9	chr8:131323600-131331600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:131325200-131335800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:131325200-131336200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:131325800-131332200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:131326200-131333400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:131326400-131333200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:131326400-131336200	Weak transcription	Hela-S3	cervix
17	chr8:131326600-131333600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:131326800-131336400	Weak transcription	Fetal Lung	lung
19	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:131327000-131333400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:131327000-131333400	Weak transcription	Brain Germinal Matrix	brain
22	chr8:131327000-131333800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:131327000-131334200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:131327000-131334800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:131327000-131345600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:131327200-131337800	Weak transcription	Fetal Kidney	kidney
27	chr8:131327400-131332000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr8:131327600-131332000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:131328200-131332800	Enhancers	Spleen	Spleen
30	chr8:131328400-131332000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr8:131328400-131332600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:131328400-131334800	Weak transcription	Liver	Liver
33	chr8:131328600-131332000	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:131328800-131332000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:131328800-131332000	Flanking Active TSS	GM12878-XiMat	blood
36	chr8:131329000-131332200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr8:131329000-131337000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:131329200-131335200	Weak transcription	Small Intestine	intestine
39	chr8:131329400-131331800	Enhancers	Brain Substantia Nigra	brain
40	chr8:131329400-131332000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:131329400-131332000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:131329400-131332000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:131329400-131332600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:131329600-131331600	Enhancers	HUVEC	blood vessel
45	chr8:131329600-131331800	Genic enhancers	Primary T cells from cord blood	blood
46	chr8:131329600-131331800	Enhancers	Brain Angular Gyrus	brain
47	chr8:131329600-131332000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:131329800-131331800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:131329800-131332000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr8:131329800-131332000	Enhancers	Sigmoid Colon	Sigmoid Colon

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