Variant report

Variant	rs6984963
Chromosome Location	chr8:131332096-131332097
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: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10089819	0.82[CHB][hapmap]
rs1158569	0.84[CHB][hapmap];0.80[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1158570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774633	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs11774659	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1340022	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2185366	0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2670885	0.83[CHB][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs2670891	0.80[AFR][1000 genomes]
rs2943086	0.83[ASN][1000 genomes]
rs3057	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470811	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6470816	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs6985563	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7002892	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7008182	0.84[EUR][1000 genomes]
rs7460225	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7817803	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7839523	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7846376	0.82[YRI][hapmap]
rs9297805	0.82[YRI][hapmap]

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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
2	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:131315600-131353400	Weak transcription	Dnd41	blood
4	chr8:131319400-131333600	Weak transcription	HepG2	liver
5	chr8:131322000-131335000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:131322000-131338200	Weak transcription	Esophagus	oesophagus
7	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
8	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:131325200-131335800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:131325200-131336200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:131325800-131332200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr8:131326200-131333400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:131326400-131333200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:131326400-131336200	Weak transcription	Hela-S3	cervix
15	chr8:131326600-131333600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:131326800-131336400	Weak transcription	Fetal Lung	lung
17	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:131327000-131333400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:131327000-131333400	Weak transcription	Brain Germinal Matrix	brain
20	chr8:131327000-131333800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:131327000-131334200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:131327000-131334800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:131327000-131345600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:131327200-131337800	Weak transcription	Fetal Kidney	kidney
25	chr8:131328200-131332800	Enhancers	Spleen	Spleen
26	chr8:131328400-131332600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:131328400-131334800	Weak transcription	Liver	Liver
28	chr8:131329000-131332200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr8:131329000-131337000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:131329200-131335200	Weak transcription	Small Intestine	intestine
31	chr8:131329400-131332600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:131329800-131333800	Enhancers	Psoas Muscle	Psoas
33	chr8:131330200-131332400	Weak transcription	Fetal Stomach	stomach
34	chr8:131330200-131332600	Weak transcription	Ovary	ovary
35	chr8:131330200-131334800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:131330200-131334800	Weak transcription	Stomach Mucosa	stomach
37	chr8:131330200-131335000	Weak transcription	Left Ventricle	heart
38	chr8:131330200-131335200	Weak transcription	Right Ventricle	heart
39	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
40	chr8:131330400-131332800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:131330400-131333400	Weak transcription	HSMM	muscle
42	chr8:131330400-131336200	Weak transcription	Fetal Heart	heart
43	chr8:131330600-131332600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:131330600-131332600	Weak transcription	Lung	lung
45	chr8:131330600-131334800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:131330600-131335000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:131330600-131336400	Weak transcription	HMEC	breast
48	chr8:131330800-131333000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:131330800-131333000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:131330800-131333400	Weak transcription	HSMMtube	muscle

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