Variant report

Variant	rs11250092
Chromosome Location	chr8:10786543-10786544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10786051..10786569-chr8:10873648..10874515,2	MCF-7	breast:
2	chr8:10770919..10772954-chr8:10785860..10787582,2	K562	blood:
3	chr8:10785251..10786661-chr8:10833873..10835317,10	K562	blood:
4	chr8:10444778..10445703-chr8:10786032..10786596,2	MCF-7	breast:
5	chr8:10696576..10697375-chr8:10786004..10786544,2	K562	blood:
6	chr8:10785773..10786613-chr8:10826278..10826960,2	MCF-7	breast:
7	chr8:10785690..10786544-chr8:10913111..10914143,3	MCF-7	breast:
8	chr8:10785719..10786553-chr8:10802895..10803663,2	K562	blood:
9	chr8:10784899..10786604-chr8:10834371..10835572,13	MCF-7	breast:
10	chr8:10785658..10786600-chr8:10834375..10835298,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254093	Chromatin interaction
ENSG00000258724	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10087767	1.00[CHB][hapmap]
rs10089518	1.00[CHB][hapmap]
rs10090444	0.82[EUR][1000 genomes]
rs10107145	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs10903337	1.00[CHB][hapmap]
rs11250093	0.96[CEU][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11250094	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11777007	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11778121	1.00[CHB][hapmap]
rs11783247	0.92[CEU][hapmap];1.00[CHD][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap]
rs11783749	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11785392	1.00[CHB][hapmap]
rs12542037	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs12546366	0.89[CEU][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap]
rs12548184	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13248264	1.00[CHB][hapmap]
rs13248300	1.00[CHB][hapmap]
rs13249916	1.00[CHB][hapmap]
rs13251528	1.00[CHB][hapmap]
rs13273857	1.00[CHB][hapmap]
rs13276836	1.00[CHB][hapmap]
rs17152841	1.00[CHB][hapmap]
rs17779791	1.00[CHB][hapmap]
rs2409691	1.00[CHB][hapmap]
rs2409692	1.00[CHB][hapmap]
rs2409693	1.00[CHB][hapmap]
rs2409695	1.00[CHB][hapmap]
rs34741518	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4073948	0.88[EUR][1000 genomes]
rs4240671	1.00[CHB][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs4240672	1.00[CHB][hapmap]
rs4240673	0.96[CEU][hapmap];1.00[CHD][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap]
rs4326350	1.00[CHB][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap]
rs4618656	1.00[CHB][hapmap]
rs4841457	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841460	1.00[CHB][hapmap]
rs4841465	0.81[CEU][hapmap]
rs4841486	1.00[CHB][hapmap]
rs4841497	1.00[CHB][hapmap]
rs6601561	1.00[CHB][hapmap]
rs6601563	1.00[CHB][hapmap]
rs6984496	0.96[CEU][hapmap];1.00[CHD][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6985109	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7005884	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7016385	1.00[CEU][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7821826	1.00[CHB][hapmap]
rs7823296	0.96[CEU][hapmap];1.00[CHD][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7832722	1.00[CHB][hapmap]
rs7833435	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7837038	0.82[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes]
rs7843470	0.85[CEU][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9657544	1.00[CHB][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	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1025190	chr8:10756331-10802566	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11250092	CTSB	cis	cerebellum	SCAN
rs11250092	C8orf13	cis	multi-tissue	Pritchard
rs11250092	PRSS55	cis	cerebellum	SCAN
rs11250092	TDH	cis	cerebellum	SCAN
rs11250092	BLK	cis	lymphoblastoid	seeQTL
rs11250092	C8orf48	cis	cerebellum	SCAN
rs11250092	CLDN23	cis	multi-tissue	Pritchard
rs11250092	DEFB136	cis	parietal	SCAN
rs11250092	FLJ10661	cis	cerebellum	SCAN
rs11250092	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10785400-10786600	Enhancers	Brain Anterior Caudate	brain
2	chr8:10785600-10786600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:10785600-10786600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr8:10785600-10786800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:10785600-10786800	Enhancers	Brain Angular Gyrus	brain
6	chr8:10785600-10786800	Enhancers	HMEC	breast
7	chr8:10785600-10787200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:10785800-10786600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:10785800-10786600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:10785800-10786600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr8:10785800-10786600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:10785800-10786600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:10785800-10786600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr8:10785800-10786600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:10785800-10786600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:10785800-10786600	Enhancers	Adipose Nuclei	Adipose
17	chr8:10785800-10786600	Enhancers	Left Ventricle	heart
18	chr8:10785800-10786600	Enhancers	Pancreas	Pancrea
19	chr8:10785800-10786600	Enhancers	Right Ventricle	heart
20	chr8:10785800-10786600	Enhancers	Spleen	Spleen
21	chr8:10786000-10786600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:10786000-10786600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:10786000-10786600	Enhancers	Placenta	Placenta
24	chr8:10786000-10786600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr8:10786200-10786600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr8:10786200-10786600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr8:10786200-10786600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:10786200-10786600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
29	chr8:10786200-10786600	Enhancers	Brain Hippocampus Middle	brain
30	chr8:10786200-10786600	Enhancers	Fetal Heart	heart
31	chr8:10786200-10786600	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr8:10786200-10786600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr8:10786400-10786600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
34	chr8:10786400-10786600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:10786400-10786600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr8:10786400-10786600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:10786400-10786600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:10786400-10786600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:10786400-10786600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr8:10786400-10786600	Enhancers	NHEK	skin
41	chr8:10786400-10787200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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