Variant report

Variant	rs17151731
Chromosome Location	chr8:10175545-10175546
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10174620..10177509-chr8:10182842..10184423,2	K562	blood:

Variant related genes	Relation type
ENSG00000175806	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10089244	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10089263	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10093246	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10105815	0.82[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.85[AMR][1000 genomes]
rs10903323	0.80[CHD][hapmap];0.88[MEX][hapmap];0.82[MKK][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes]
rs11249982	0.80[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes]
rs11249983	0.82[CHB][hapmap];0.85[AMR][1000 genomes]
rs11249986	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11249987	0.88[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11249988	0.95[CHB][hapmap]
rs11249989	0.90[AMR][1000 genomes]
rs11782868	0.95[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.83[MEX][hapmap];0.84[MKK][hapmap];0.89[ASN][1000 genomes]
rs11990063	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11994805	0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12676847	0.86[CHB][hapmap];0.90[AMR][1000 genomes]
rs13251198	0.95[CHB][hapmap]
rs17151588	0.83[CHD][hapmap]
rs17151700	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17151759	0.95[CHB][hapmap];0.87[MEX][hapmap];0.89[AMR][1000 genomes]
rs2003226	0.95[CHB][hapmap];0.90[AMR][1000 genomes]
rs28590421	0.98[ASN][1000 genomes]
rs36089236	0.86[AMR][1000 genomes]
rs4240641	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs4240642	0.86[AMR][1000 genomes]
rs4278158	0.90[AMR][1000 genomes]
rs4307347	0.86[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4329276	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4335130	0.90[CHB][hapmap];0.83[MEX][hapmap]
rs4403412	0.84[JPT][hapmap]
rs4419814	0.88[AMR][1000 genomes]
rs4498602	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs4503102	0.87[CHD][hapmap]
rs4509385	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs4546664	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4577961	0.85[CHB][hapmap]
rs6601428	0.84[JPT][hapmap]
rs6601430	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6601431	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7006402	0.81[CHB][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes]
rs7010549	0.94[ASN][1000 genomes]
rs764738	0.83[CHD][hapmap]
rs7818111	0.89[AMR][1000 genomes]
rs7821327	0.82[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.85[AMR][1000 genomes]
rs7825984	1.00[CHB][hapmap]
rs7842154	0.81[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv610264	chr8:10158428-10181176	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17151731	BLK	cis	parietal	SCAN
rs17151731	DEFB134	cis	cerebellum	SCAN
rs17151731	MSRA	cis	cerebellum	SCAN
rs17151731	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10151400-10177000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:10151400-10178800	Weak transcription	Spleen	Spleen
3	chr8:10157200-10177600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:10158000-10177400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:10158600-10178200	Weak transcription	Brain Anterior Caudate	brain
6	chr8:10158800-10177600	Weak transcription	Primary B cells from cord blood	blood
7	chr8:10159000-10177400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:10161800-10177600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:10163800-10177200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:10163800-10177200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:10163800-10177800	Weak transcription	Primary T cells from cord blood	blood
12	chr8:10167200-10178800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:10167800-10177600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:10168200-10178800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:10168400-10178200	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:10168400-10178200	Weak transcription	Brain Substantia Nigra	brain
17	chr8:10168400-10188600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:10169000-10183200	Weak transcription	Brain Angular Gyrus	brain
19	chr8:10169000-10183600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:10170800-10177400	Weak transcription	Gastric	stomach
21	chr8:10170800-10177400	Weak transcription	Left Ventricle	heart
22	chr8:10170800-10178200	Weak transcription	Brain Germinal Matrix	brain
23	chr8:10170800-10178800	Weak transcription	Pancreas	Pancrea
24	chr8:10170800-10178800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:10171000-10176600	Weak transcription	Liver	Liver
26	chr8:10171400-10177400	Weak transcription	Fetal Brain Female	brain
27	chr8:10173200-10182200	Weak transcription	Fetal Brain Male	brain
28	chr8:10174400-10177400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:10175200-10178800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links