Variant report

Variant	rs2305510
Chromosome Location	chr8:131138344-131138345
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131134192..131138136-chr8:131138332..131141936,3	K562	blood:
2	chr8:131132549..131136188-chr8:131136344..131140463,4	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1417008	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap]
rs1426102	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap]
rs1549454	0.82[CHD][hapmap]
rs1556972	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes]
rs16904209	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16904210	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16904214	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16904215	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16904227	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[EUR][1000 genomes]
rs16904229	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs16904230	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs16904232	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs16904235	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs16904236	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs16904237	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs16904247	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17210536	0.83[CEU][hapmap];0.88[GIH][hapmap]
rs2303444	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28407848	0.80[ASN][1000 genomes]
rs3758028	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs4295708	0.88[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap]
rs56349521	0.82[ASN][1000 genomes]
rs749126	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2305510	ASAP1	cis	Skin Sun Exposed Lower leg	GTEx
rs2305510	ASAP1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131113000-131142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:131116000-131141400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:131116000-131141400	Strong transcription	Primary T cells from cord blood	blood
5	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:131118000-131141000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:131118400-131140400	Strong transcription	Placenta	Placenta
8	chr8:131118400-131140800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr8:131118400-131143600	Weak transcription	Stomach Mucosa	stomach
10	chr8:131118600-131140800	Strong transcription	Primary B cells from cord blood	blood
11	chr8:131118800-131140200	Strong transcription	Fetal Thymus	thymus
12	chr8:131118800-131141000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:131119600-131140800	Strong transcription	Liver	Liver
14	chr8:131124000-131140800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:131124800-131138400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:131124800-131145800	Weak transcription	Right Ventricle	heart
17	chr8:131125200-131138400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:131125600-131141800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr8:131125600-131143600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:131125800-131151800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:131126400-131141600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:131127800-131140400	Strong transcription	Left Ventricle	heart
23	chr8:131128000-131143600	Weak transcription	Aorta	Aorta
24	chr8:131128000-131143600	Weak transcription	Pancreas	Pancrea
25	chr8:131128200-131138600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:131128200-131154800	Weak transcription	Colonic Mucosa	Colon
27	chr8:131128400-131139000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:131128800-131147200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
30	chr8:131129000-131138800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:131129200-131141000	Strong transcription	Adipose Nuclei	Adipose
32	chr8:131129200-131144400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:131129200-131147200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:131130000-131138600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:131130200-131138400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:131130200-131138600	Weak transcription	Fetal Kidney	kidney
37	chr8:131130200-131139000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr8:131130400-131138800	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr8:131130800-131138800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:131130800-131139000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr8:131130800-131139800	Weak transcription	GM12878-XiMat	blood
43	chr8:131130800-131146000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:131131000-131138400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:131132600-131138600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr8:131132600-131140800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr8:131132600-131143000	Weak transcription	Fetal Intestine Small	intestine
48	chr8:131133000-131138400	Weak transcription	Brain Anterior Caudate	brain
49	chr8:131133000-131138600	Weak transcription	Brain Germinal Matrix	brain
50	chr8:131133000-131143600	Weak transcription	Esophagus	oesophagus

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