Variant report

Variant	rs7979369
Chromosome Location	chr12:44242657-44242658
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44228652..44231485-chr12:44241299..44244187,4	MCF-7	breast:
2	chr12:44236889..44239645-chr12:44240734..44243980,3	MCF-7	breast:
3	chr12:44228729..44230995-chr12:44242066..44244181,2	K562	blood:
4	chr12:44199273..44201311-chr12:44240637..44242972,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151239	Chromatin interaction
ENSG00000139173	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10880574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11182287	0.92[EUR][1000 genomes]
rs11182294	0.83[EUR][1000 genomes]
rs1731422	0.82[EUR][1000 genomes]
rs55935254	0.85[AMR][1000 genomes]
rs56116013	0.85[AMR][1000 genomes]
rs61290421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7307521	0.85[AMR][1000 genomes]
rs73096907	0.85[AMR][1000 genomes]
rs73096918	0.85[AMR][1000 genomes]
rs73096923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73096965	0.85[AMR][1000 genomes]
rs73096996	0.85[AMR][1000 genomes]
rs73096997	0.85[AMR][1000 genomes]
rs7315408	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr12:44230400-44243800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:44230400-44244200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:44230400-44250800	Weak transcription	Gastric	stomach
4	chr12:44230800-44243800	Weak transcription	Ovary	ovary
5	chr12:44230800-44250800	Weak transcription	Pancreas	Pancrea
6	chr12:44230800-44254800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:44230800-44260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:44231000-44242800	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:44231000-44245800	Weak transcription	Adipose Nuclei	Adipose
10	chr12:44231000-44245800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:44231000-44249800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:44231000-44251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:44231000-44252200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:44231000-44254600	Weak transcription	GM12878-XiMat	blood
15	chr12:44231200-44261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:44231400-44245800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:44231400-44245800	Weak transcription	Liver	Liver
18	chr12:44233400-44254400	Weak transcription	Left Ventricle	heart
19	chr12:44233600-44251200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:44234200-44254000	Weak transcription	Primary B cells from cord blood	blood
21	chr12:44234600-44260000	Weak transcription	Psoas Muscle	Psoas
22	chr12:44237800-44254200	Weak transcription	Small Intestine	intestine
23	chr12:44238800-44246000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:44240200-44243200	Enhancers	Hela-S3	cervix
25	chr12:44240200-44243200	Enhancers	HMEC	breast
26	chr12:44240400-44243400	Enhancers	NHEK	skin
27	chr12:44240400-44245800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
29	chr12:44240800-44243000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:44240800-44243000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:44241000-44242800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:44241000-44243000	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr12:44241400-44254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:44241600-44243200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:44241600-44245000	Weak transcription	Right Ventricle	heart
36	chr12:44241600-44245000	Weak transcription	HepG2	liver
37	chr12:44241600-44245400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:44241600-44245600	Weak transcription	NH-A	brain
39	chr12:44241600-44245800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:44241600-44247000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:44241600-44251800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:44241600-44252200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:44242400-44242800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:44242400-44242800	ZNF genes & repeats	Placenta	Placenta
45	chr12:44242400-44243200	Enhancers	HSMM	muscle
46	chr12:44242600-44242800	Enhancers	Esophagus	oesophagus
47	chr12:44242600-44243000	ZNF genes & repeats	Fetal Intestine Large	intestine
48	chr12:44242600-44243000	Enhancers	HSMMtube	muscle
49	chr12:44242600-44243200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:44242600-44243200	Enhancers	NHDF-Ad	bronchial

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