Variant report

Variant	rs16904247
Chromosome Location	chr8:131329465-131329466
allele	C/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	chr8:131325475..131327284-chr8:131328530..131331527,2	MCF-7	breast:
3	chr8:131327964..131329913-chr8:131340492..131342664,2	K562	blood:
4	chr8:131324792..131327507-chr8:131328218..131332203,4	K562	blood:
5	chr8:131328726..131330955-chr8:131369323..131371352,2	MCF-7	breast:
6	chr8:131328562..131331530-chr8:131335260..131337875,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1417008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1426102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1556972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16904209	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes]
rs16904210	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes]
rs16904214	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes]
rs16904215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs16904227	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes]
rs16904229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes]
rs16904230	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16904232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16904235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16904236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16904237	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16904251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16904252	1.00[YRI][hapmap];0.95[AMR][1000 genomes]
rs16904253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16904257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904261	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16904263	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16904264	0.89[EUR][1000 genomes]
rs17210536	0.88[CEU][hapmap]
rs2303444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes]
rs2305510	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4363239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4629915	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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
6	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16904247	ASAP1	cis	Skin Sun Exposed Lower leg	GTEx
rs16904247	ASAP1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131307000-131329600	Weak transcription	Aorta	Aorta
2	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
3	chr8:131315600-131331600	Weak transcription	Thymus	Thymus
4	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:131315600-131353400	Weak transcription	Dnd41	blood
6	chr8:131319400-131333600	Weak transcription	HepG2	liver
7	chr8:131319800-131329800	Weak transcription	Right Ventricle	heart
8	chr8:131322000-131335000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:131322000-131338200	Weak transcription	Esophagus	oesophagus
10	chr8:131323400-131329600	Weak transcription	Brain Angular Gyrus	brain
11	chr8:131323400-131329800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:131323400-131329800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
14	chr8:131323600-131331600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:131325000-131330200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:131325200-131330000	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:131325200-131335800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:131325200-131336200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:131325800-131332200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr8:131326000-131330600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:131326200-131330400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:131326200-131333400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:131326400-131329800	Weak transcription	NH-A	brain
25	chr8:131326400-131330000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:131326400-131330000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:131326400-131330600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:131326400-131331000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:131326400-131331200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:131326400-131333200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:131326400-131336200	Weak transcription	Hela-S3	cervix
32	chr8:131326600-131329600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:131326600-131329800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:131326600-131329800	Weak transcription	HSMMtube	muscle
35	chr8:131326600-131330000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:131326600-131330200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:131326600-131333600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:131326800-131329800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:131326800-131336400	Weak transcription	Fetal Lung	lung
40	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:131327000-131329600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:131327000-131329600	Weak transcription	HUVEC	blood vessel
43	chr8:131327000-131329800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:131327000-131329800	Weak transcription	Brain Anterior Caudate	brain
45	chr8:131327000-131329800	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:131327000-131329800	Weak transcription	Fetal Stomach	stomach
47	chr8:131327000-131329800	Weak transcription	Psoas Muscle	Psoas
48	chr8:131327000-131329800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:131327000-131329800	Weak transcription	Right Atrium	heart
50	chr8:131327000-131329800	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links