Variant report

Variant	rs10497043
Chromosome Location	chr2:150991458-150991459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:150990310..150992459-chr2:150998198..151000635,2	MCF-7	breast:
2	chr2:150990703..150992242-chr2:151342766..151345090,2	MCF-7	breast:
3	chr2:150981948..150984533-chr2:150988728..150991598,2	MCF-7	breast:
4	chr2:150990438..150993120-chr2:150995084..150997396,2	MCF-7	breast:
5	chr2:150984090..150985971-chr2:150989879..150991996,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115963	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11690111	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349216	0.85[ASN][1000 genomes]
rs66854919	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67082067	0.85[ASN][1000 genomes]
rs67402538	0.85[ASN][1000 genomes]
rs68028498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68172038	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869702	0.85[ASN][1000 genomes]
rs72871227	0.85[ASN][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	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv979344	chr2:150989247-150991969	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:150984800-150997800	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:150987000-150993000	Enhancers	Fetal Lung	lung
3	chr2:150989800-150991600	Enhancers	NHEK	skin
4	chr2:150989800-150991800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:150989800-150992400	Flanking Active TSS	A549	lung
6	chr2:150989800-150993800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:150989800-150994800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr2:150990000-150991800	Enhancers	Osteobl	bone
9	chr2:150990000-150993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:150990000-150993800	Enhancers	NHDF-Ad	bronchial
11	chr2:150990000-150995800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:150990200-150992000	Enhancers	Dnd41	blood
13	chr2:150990200-150992600	Enhancers	Adipose Nuclei	Adipose
14	chr2:150990200-150993200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:150990200-150993200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:150990600-150991800	Enhancers	Fetal Intestine Small	intestine
17	chr2:150990600-150991800	Enhancers	NH-A	brain
18	chr2:150990600-150992600	Enhancers	Liver	Liver
19	chr2:150990600-150992600	Enhancers	Fetal Intestine Large	intestine
20	chr2:150990600-150998000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:150990800-150991800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:150991000-150991600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:150991000-150991800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:150991000-150991800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:150991000-150997000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:150991000-150997600	Weak transcription	HSMM	muscle
27	chr2:150991200-150992400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:150991200-150993200	Weak transcription	Fetal Kidney	kidney
29	chr2:150991200-150993400	Weak transcription	HMEC	breast
30	chr2:150991200-150999600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:150991400-150994000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:150991400-150996600	Weak transcription	HUVEC	blood vessel
33	chr2:150991400-150997800	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links