Variant report

Variant	rs1794849
Chromosome Location	chr6:12294862-12294863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:12292827..12295303-chr6:12330889..12332793,2	MCF-7	breast:
2	chr6:12290465..12292846-chr6:12293817..12296701,4	MCF-7	breast:
3	chr6:12292970..12295916-chr6:12385885..12388273,2	MCF-7	breast:
4	chr6:12292745..12295356-chr6:12368106..12370135,2	MCF-7	breast:
5	chr6:12292613..12295178-chr6:12296752..12298265,2	MCF-7	breast:
6	chr6:12293675..12296449-chr6:12475977..12478755,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078401	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1626492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912834	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7760229	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830586	chr6:12130076-12295334	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv508394	chr6:12285464-12386745	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12290800-12297200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
2	chr6:12291600-12296600	Transcr. at gene 5' and 3'	A549	lung
3	chr6:12292600-12295800	Weak transcription	Hela-S3	cervix
4	chr6:12292600-12296200	Weak transcription	NHLF	lung
5	chr6:12292800-12296400	Weak transcription	Liver	Liver
6	chr6:12292800-12298000	Weak transcription	Gastric	stomach
7	chr6:12292800-12299200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:12293000-12295400	Weak transcription	Placenta	Placenta
9	chr6:12293000-12295400	Weak transcription	Osteobl	bone
10	chr6:12293000-12295600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:12293000-12295800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:12293000-12296200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:12293000-12296200	Weak transcription	Pancreas	Pancrea
14	chr6:12293000-12296400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:12293000-12298000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:12293000-12300000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:12293200-12295000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
18	chr6:12293200-12295000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:12293200-12295400	Weak transcription	Aorta	Aorta
20	chr6:12293200-12296200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:12293200-12296200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:12293200-12296200	Weak transcription	Spleen	Spleen
23	chr6:12293200-12296400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr6:12293200-12297600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:12293200-12298000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:12293200-12298000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:12293200-12298200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:12293200-12299800	Weak transcription	Left Ventricle	heart
29	chr6:12293400-12295000	Genic enhancers	Placenta Amnion	Placenta Amnion
30	chr6:12293400-12296200	Weak transcription	Lung	lung
31	chr6:12293400-12296200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr6:12293600-12295600	Weak transcription	GM12878-XiMat	blood
33	chr6:12293600-12295800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:12293600-12296000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr6:12293600-12296200	Genic enhancers	Muscle Satellite Cultured Cells	--
36	chr6:12293600-12296400	Genic enhancers	NH-A	brain
37	chr6:12293800-12295200	Weak transcription	Fetal Stomach	stomach
38	chr6:12293800-12296200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:12293800-12296200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:12293800-12296200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:12293800-12296200	Genic enhancers	Fetal Intestine Small	intestine
42	chr6:12293800-12296200	Genic enhancers	NHEK	skin
43	chr6:12293800-12296600	Genic enhancers	Rectal Mucosa Donor 31	rectum
44	chr6:12293800-12297200	Genic enhancers	Fetal Intestine Large	intestine
45	chr6:12294000-12295000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:12294000-12295400	Strong transcription	HSMMtube	muscle
47	chr6:12294000-12295800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr6:12294000-12296200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:12294200-12295000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:12294200-12295200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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