Variant report

Variant	rs12191652
Chromosome Location	chr6:74162537-74162538
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF3C2	chr6:74162150-74162617	Hela-S3	cervix:	n/a	n/a
2	ELF1	chr6:74160906-74162595	GM12878	blood:	n/a	chr6:74161955-74161966
3	RPC155	chr6:74162050-74162623	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74160479..74164788-chr6:74167921..74174562,8	MCF-7	breast:
2	chr6:74161775..74163563-chr6:74231007..74233412,2	MCF-7	breast:
3	chr6:74161054..74162803-chr6:74170149..74171814,3	K562	blood:
4	chr6:74157393..74162572-chr6:74229200..74231801,6	MCF-7	breast:
5	chr6:74102482..74106495-chr6:74159619..74163030,5	MCF-7	breast:
6	6:74000304-74012200..6:74160392-74184826	K562	blood:
7	chr6:74161054..74162803-chr6:74170149..74171792,2	K562	blood:

No data

Variant related genes	Relation type
MB21D1	TF binding region
ENSG00000207023	Chromatin interaction
ENSG00000229862	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000135297	Chromatin interaction
ENSG00000234882	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000238464	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12192004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198919	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200686	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60070262	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6453674	0.86[ASN][1000 genomes]
rs6453675	0.86[ASN][1000 genomes]
rs6909621	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7761170	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763873	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7768980	0.84[ASN][1000 genomes]
rs903516	0.86[ASN][1000 genomes]
rs903517	0.86[ASN][1000 genomes]
rs9442913	0.84[ASN][1000 genomes]
rs9442914	0.82[ASN][1000 genomes]
rs9446909	0.86[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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
4	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74158600-74162600	Active TSS	Hela-S3	cervix
2	chr6:74160200-74162600	Active TSS	HSMM	muscle
3	chr6:74160200-74162600	Active TSS	Osteobl	bone
4	chr6:74161400-74162600	Active TSS	Adipose Nuclei	Adipose
5	chr6:74162000-74162600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:74162200-74162600	Enhancers	Primary B cells from peripheral blood	blood
7	chr6:74162200-74162600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:74162200-74162600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr6:74162200-74163200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:74162200-74164200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:74162200-74164200	Weak transcription	HMEC	breast
12	chr6:74162200-74164200	Weak transcription	NHEK	skin
13	chr6:74162200-74170800	Weak transcription	Liver	Liver
14	chr6:74162200-74170800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:74162200-74170800	Weak transcription	Lung	lung
16	chr6:74162400-74162600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr6:74162400-74162600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr6:74162400-74162600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:74162400-74162600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:74162400-74162600	Enhancers	Fetal Muscle Trunk	muscle
21	chr6:74162400-74162600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr6:74162400-74162600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr6:74162400-74162600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr6:74162400-74162600	Enhancers	GM12878-XiMat	blood
25	chr6:74162400-74162800	Enhancers	Primary B cells from cord blood	blood
26	chr6:74162400-74162800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:74162400-74162800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:74162400-74162800	Enhancers	Placenta	Placenta
29	chr6:74162400-74163200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr6:74162400-74163200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr6:74162400-74163200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:74162400-74164200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:74162400-74164200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:74162400-74164200	Weak transcription	Esophagus	oesophagus
35	chr6:74162400-74164200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr6:74162400-74164600	Weak transcription	Right Ventricle	heart
37	chr6:74162400-74165200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:74162400-74165600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr6:74162400-74165800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:74162400-74165800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:74162400-74169800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr6:74162400-74170800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:74162400-74170800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:74162400-74170800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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