Variant report

Variant	rs16904166
Chromosome Location	chr8:130882869-130882870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10956502	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11984804	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs167239	0.81[ASN][1000 genomes]
rs1979477	0.83[ASN][1000 genomes]
rs2046260	0.83[CHB][hapmap];0.86[CHD][hapmap];0.85[ASN][1000 genomes]
rs2054632	0.86[CHD][hapmap];0.84[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2086641	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs212992	0.83[ASN][1000 genomes]
rs2306528	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2449415	0.83[CHB][hapmap]
rs2449417	0.83[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.80[ASN][1000 genomes]
rs2663613	0.88[ASN][1000 genomes]
rs2663618	0.83[CHB][hapmap];0.84[CHD][hapmap];0.83[ASN][1000 genomes]
rs298601	0.86[CHD][hapmap]
rs298602	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs298607	0.85[ASN][1000 genomes]
rs298609	0.83[CHB][hapmap];0.86[CHD][hapmap];0.85[ASN][1000 genomes]
rs298610	0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs298611	0.83[CHB][hapmap];0.86[CHD][hapmap];0.85[ASN][1000 genomes]
rs298612	0.84[ASN][1000 genomes]
rs298613	0.86[CHD][hapmap];0.86[ASN][1000 genomes]
rs298614	0.86[ASN][1000 genomes]
rs298615	0.87[ASN][1000 genomes]
rs298616	0.83[CHB][hapmap];0.86[CHD][hapmap];0.87[ASN][1000 genomes]
rs298617	0.87[ASN][1000 genomes]
rs298618	0.83[CHB][hapmap];0.84[CHD][hapmap];0.85[ASN][1000 genomes]
rs298619	0.81[ASN][1000 genomes]
rs2989885	0.83[CHB][hapmap];0.82[CHD][hapmap];0.87[ASN][1000 genomes]
rs34983967	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs367117	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs383209	0.83[CHB][hapmap];0.86[CHD][hapmap];0.86[ASN][1000 genomes]
rs384752	0.83[CHB][hapmap];0.86[CHD][hapmap];0.86[ASN][1000 genomes]
rs385022	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs389604	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs401526	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs412941	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs438877	0.85[ASN][1000 genomes]
rs4395866	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59839253	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs710616	0.83[CHB][hapmap];0.86[CHD][hapmap];0.86[ASN][1000 genomes]
rs837065	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs837075	0.81[ASN][1000 genomes]
rs837080	0.83[ASN][1000 genomes]
rs837081	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs857233	0.81[CHD][hapmap];0.85[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	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130850800-130884000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:130851000-130883800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:130851600-130884600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr8:130852000-130883800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr8:130852200-130883800	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr8:130862600-130884400	Weak transcription	Fetal Brain Male	brain
7	chr8:130863600-130886800	Weak transcription	Fetal Lung	lung
8	chr8:130864400-130903600	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:130864600-130888200	Weak transcription	Small Intestine	intestine
10	chr8:130864800-130898200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:130865000-130897400	Weak transcription	Psoas Muscle	Psoas
12	chr8:130865200-130887200	Weak transcription	Fetal Kidney	kidney
13	chr8:130865200-130897600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:130865400-130899200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:130865600-130907600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:130866000-130894800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:130866200-130885400	Weak transcription	Stomach Mucosa	stomach
18	chr8:130866400-130891600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:130868000-130891400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:130869800-130895800	Weak transcription	HepG2	liver
21	chr8:130869800-130897600	Weak transcription	Brain Angular Gyrus	brain
22	chr8:130870400-130883400	Weak transcription	Fetal Brain Female	brain
23	chr8:130870600-130886000	Weak transcription	HUVEC	blood vessel
24	chr8:130871000-130884400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:130871200-130887600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:130871200-130896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:130873600-130895600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:130873800-130887600	Weak transcription	Fetal Stomach	stomach
29	chr8:130874000-130899000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:130874200-130886800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:130874400-130884600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:130874600-130886400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:130874600-130897600	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:130875200-130897400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:130875800-130899400	Weak transcription	Fetal Intestine Large	intestine
36	chr8:130877000-130885800	Weak transcription	Hela-S3	cervix
37	chr8:130877000-130886800	Weak transcription	NH-A	brain
38	chr8:130877200-130897400	Weak transcription	Fetal Intestine Small	intestine
39	chr8:130877200-130898800	Weak transcription	Lung	lung
40	chr8:130878400-130885400	Weak transcription	Fetal Heart	heart
41	chr8:130878800-130883800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:130879200-130884400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:130880000-130883800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:130880400-130883600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr8:130881800-130883800	Strong transcription	Adipose Nuclei	Adipose
46	chr8:130881800-130884000	Strong transcription	Primary T cells from cord blood	blood
47	chr8:130881800-130884200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr8:130881800-130884400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr8:130881800-130886800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:130881800-130887800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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