Variant report

Variant	rs11964131
Chromosome Location	chr6:33567627-33567628
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33557038..33558663-chr6:33565418..33568204,3	K562	blood:
2	chr6:33567572..33569907-chr6:33573549..33575919,2	MCF-7	breast:
3	chr6:33566688..33568911-chr6:33636835..33638571,2	K562	blood:
4	chr6:33557935..33558471-chr6:33567388..33568017,2	MCF-7	breast:
5	chr6:33567428..33569467-chr6:33588119..33589840,2	MCF-7	breast:
6	chr6:33559755..33561474-chr6:33565706..33568231,2	K562	blood:
7	chr6:33567331..33570244-chr6:33587818..33589464,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction
ENSG00000197251	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs3846856	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846857	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846858	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846859	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846861	0.96[AFR][1000 genomes]
rs3857560	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4460206	1.00[AMR][1000 genomes]
rs5745578	1.00[AMR][1000 genomes]
rs5745579	1.00[AMR][1000 genomes]
rs5745580	1.00[AMR][1000 genomes]
rs5745597	1.00[AMR][1000 genomes]
rs60691479	1.00[AMR][1000 genomes]
rs6903143	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6909769	1.00[AMR][1000 genomes]
rs6928531	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7744691	1.00[AMR][1000 genomes]
rs7761085	1.00[AMR][1000 genomes]
rs7762586	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7765464	1.00[AMR][1000 genomes]
rs7769914	1.00[AMR][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	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	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
5	esv992246	chr6:33561708-33570974	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33559600-33569800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:33561600-33570400	Weak transcription	Fetal Intestine Large	intestine
3	chr6:33564400-33567800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:33565400-33567800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr6:33566000-33571000	Weak transcription	Fetal Intestine Small	intestine
6	chr6:33566200-33568400	Weak transcription	Primary T cells from cord blood	blood
7	chr6:33566800-33568400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:33567000-33567800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:33567000-33567800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:33567000-33567800	Flanking Active TSS	Hela-S3	cervix
11	chr6:33567000-33567800	Enhancers	NHEK	skin
12	chr6:33567000-33568000	Enhancers	HMEC	breast
13	chr6:33567200-33567800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:33567200-33567800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:33567200-33567800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:33567200-33567800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:33567200-33567800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr6:33567200-33567800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:33567200-33567800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:33567200-33567800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:33567200-33567800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:33567200-33567800	Enhancers	Duodenum Mucosa	Duodenum
23	chr6:33567200-33567800	Enhancers	Esophagus	oesophagus
24	chr6:33567200-33567800	Enhancers	Placenta	Placenta
25	chr6:33567200-33567800	Enhancers	Gastric	stomach
26	chr6:33567200-33567800	Enhancers	Left Ventricle	heart
27	chr6:33567200-33567800	Enhancers	Pancreas	Pancrea
28	chr6:33567200-33567800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr6:33567200-33567800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr6:33567200-33567800	Enhancers	Stomach Mucosa	stomach
31	chr6:33567200-33567800	Enhancers	Spleen	Spleen
32	chr6:33567200-33567800	Enhancers	HSMM	muscle
33	chr6:33567200-33567800	Enhancers	NH-A	brain
34	chr6:33567200-33568000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:33567200-33568000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:33567400-33567800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr6:33567400-33567800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:33567400-33567800	Enhancers	Lung	lung
39	chr6:33567400-33567800	Enhancers	NHLF	lung
40	chr6:33567600-33567800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:33567600-33567800	Enhancers	HepG2	liver
42	chr6:33567600-33569800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:33567600-33571400	Weak transcription	Psoas Muscle	Psoas
44	chr6:33567600-33571600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:33567600-33572800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:33567600-33572800	Weak transcription	A549	lung
47	chr6:33567600-33572800	Weak transcription	HSMMtube	muscle
48	chr6:33567600-33574200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:33567600-33575800	Weak transcription	Right Atrium	heart
50	chr6:33567600-33575800	Weak transcription	Right Ventricle	heart

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