Variant report

Variant	rs1147996
Chromosome Location	chr12:75957284-75957285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:75955678..75958303-chr12:75962611..75964917,2	MCF-7	breast:
2	chr12:75955365..75957575-chr12:75958658..75961087,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1056903	1.00[ASN][1000 genomes]
rs1056905	1.00[ASN][1000 genomes]
rs10732759	1.00[ASN][1000 genomes]
rs10735988	1.00[ASN][1000 genomes]
rs10748281	1.00[ASN][1000 genomes]
rs10785192	1.00[ASN][1000 genomes]
rs10879940	0.86[AMR][1000 genomes]
rs10879942	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11180599	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11180602	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1275473	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275475	1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275482	1.00[ASN][1000 genomes]
rs1295819	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383102	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1679383	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115542	1.00[ASN][1000 genomes]
rs1842320	1.00[ASN][1000 genomes]
rs1965925	0.80[AMR][1000 genomes]
rs2013270	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4296072	1.00[ASN][1000 genomes]
rs4462386	1.00[ASN][1000 genomes]
rs4539373	1.00[ASN][1000 genomes]
rs4882633	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7136963	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7298332	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7301086	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7316871	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7488353	0.85[AMR][1000 genomes];0.85[EUR][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	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75946600-75957600	Weak transcription	Fetal Brain Male	brain
2	chr12:75948000-75958200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:75948800-75958200	Weak transcription	Osteobl	bone
4	chr12:75950800-75959600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:75953800-75959000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:75954600-75964800	Weak transcription	Brain Substantia Nigra	brain
7	chr12:75954800-75958200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:75954800-75958200	Weak transcription	HMEC	breast
9	chr12:75955000-75958200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:75955200-75957400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:75955800-75958200	Weak transcription	Spleen	Spleen
12	chr12:75956400-75961400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:75956600-75957800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:75956600-75958200	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:75957000-75959000	Enhancers	HUVEC	blood vessel
16	chr12:75957200-75957400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:75957200-75957400	Enhancers	Esophagus	oesophagus
18	chr12:75957200-75958800	Enhancers	Fetal Brain Female	brain
19	chr12:75957200-75959000	Enhancers	NHDF-Ad	bronchial
20	chr12:75957200-75960200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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