Variant report

Variant	rs6915136
Chromosome Location	chr6:33651322-33651323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33648020..33651730-chr6:33656230..33658624,3	MCF-7	breast:
2	chr6:33645251..33648923-chr6:33649815..33652997,4	MCF-7	breast:
3	chr6:33644740..33654543-chr6:33656969..33664772,16	MCF-7	breast:
4	chr6:33650440..33652793-chr6:33677259..33679929,2	MCF-7	breast:
5	chr6:33587231..33590444-chr6:33650700..33653055,3	K562	blood:

Variant related genes	Relation type
ENSG00000137288	Chromatin interaction
ENSG00000269490	Chromatin interaction
ENSG00000096433	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10672	1.00[JPT][hapmap]
rs10947428	0.84[CEU][hapmap]
rs10947436	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs10947446	1.00[JPT][hapmap]
rs1536501	0.82[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs1547668	1.00[JPT][hapmap]
rs1998949	1.00[JPT][hapmap]
rs2182659	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2395401	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2395448	1.00[JPT][hapmap]
rs2967	1.00[JPT][hapmap]
rs3957165	1.00[JPT][hapmap]
rs3998115	1.00[JPT][hapmap]
rs4711350	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs498114	0.89[GIH][hapmap];1.00[JPT][hapmap]
rs530614	0.89[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs549652	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs597386	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs602399	0.89[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs608971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs623813	0.94[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs652049	0.89[CEU][hapmap];0.88[GIH][hapmap]
rs654682	1.00[JPT][hapmap]
rs658087	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs680608	0.85[EUR][1000 genomes]
rs684119	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs688209	0.84[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs6913517	1.00[JPT][hapmap]
rs751727	1.00[JPT][hapmap]
rs764753	1.00[JPT][hapmap]
rs942496	1.00[JPT][hapmap]
rs943463	1.00[JPT][hapmap]
rs943464	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs943472	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs9461905	1.00[JPT][hapmap]
rs9469542	1.00[JPT][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	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv885771	chr6:33626717-33660143	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6915136	UHRF1BP1	cis	cerebellum	SCAN
rs6915136	ITPR3	cis	multi-tissue	Pritchard

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33613000-33659400	Strong transcription	Fetal Intestine Small	intestine
2	chr6:33613200-33660400	Strong transcription	Thymus	Thymus
3	chr6:33615000-33660800	Strong transcription	Fetal Intestine Large	intestine
4	chr6:33619600-33660800	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr6:33621000-33659400	Strong transcription	Duodenum Mucosa	Duodenum
6	chr6:33621400-33662200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:33621400-33672600	Strong transcription	Dnd41	blood
8	chr6:33622000-33660000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:33624600-33664800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:33629000-33662800	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:33630400-33660800	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr6:33631600-33667000	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr6:33631800-33661200	Weak transcription	Liver	Liver
14	chr6:33636600-33660600	Strong transcription	Colonic Mucosa	Colon
15	chr6:33636800-33660200	Strong transcription	Lung	lung
16	chr6:33636800-33661400	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:33637400-33661600	Strong transcription	Esophagus	oesophagus
18	chr6:33638000-33652200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:33638200-33659200	Weak transcription	Right Atrium	heart
20	chr6:33639600-33659200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:33640000-33669200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:33641000-33667800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:33641200-33658600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:33641200-33659600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr6:33641200-33661600	Strong transcription	NHEK	skin
26	chr6:33641400-33659200	Strong transcription	HMEC	breast
27	chr6:33641400-33660200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:33641400-33668000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:33641800-33661800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:33642400-33654000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:33642400-33659600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:33642400-33660600	Weak transcription	Brain Germinal Matrix	brain
33	chr6:33643600-33654200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:33643800-33654000	Weak transcription	Fetal Brain Male	brain
35	chr6:33643800-33659800	Strong transcription	Adipose Nuclei	Adipose
36	chr6:33644000-33659400	Weak transcription	HSMMtube	muscle
37	chr6:33644000-33660600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:33644000-33662000	Weak transcription	Fetal Kidney	kidney
39	chr6:33644600-33659600	Strong transcription	Gastric	stomach
40	chr6:33645400-33657000	Weak transcription	Left Ventricle	heart
41	chr6:33645400-33659400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:33645600-33659400	Strong transcription	NHLF	lung
43	chr6:33645800-33654000	Weak transcription	HepG2	liver
44	chr6:33645800-33659400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:33645800-33659800	Strong transcription	Fetal Stomach	stomach
46	chr6:33646000-33651400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr6:33646000-33654200	Weak transcription	K562	blood
48	chr6:33646000-33660400	Weak transcription	HUVEC	blood vessel
49	chr6:33647000-33653200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr6:33647200-33659800	Strong transcription	Primary B cells from peripheral blood	blood

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