Variant report

Variant	rs7967498
Chromosome Location	chr12:76100750-76100751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:76098673..76101455-chr12:76339304..76341951,2	MCF-7	breast:
2	chr12:76100050..76100750-chr14:90910076..90910761,2	MCF-7	breast:
3	chr12:76099926..76101874-chr12:76365799..76367689,2	MCF-7	breast:
4	chr12:76092093..76110851-chr12:76415034..76433496,122	MCF-7	breast:
5	chr12:76023357..76025100-chr12:76099295..76101249,2	MCF-7	breast:
6	chr12:76099220..76100944-chr12:76739445..76741568,2	MCF-7	breast:
7	chr12:76098446..76100870-chr12:76101330..76106018,5	K562	blood:
8	chr12:76015734..76021626-chr12:76097256..76101818,9	MCF-7	breast:
9	chr12:76096760..76101934-chr12:76112737..76117926,8	MCF-7	breast:
10	chr12:76098481..76102086-chr12:76423023..76426874,6	MCF-7	breast:
11	chr12:76097180..76098838-chr12:76099370..76102152,2	MCF-7	breast:
12	chr12:76091616..76093150-chr12:76098574..76100894,2	MCF-7	breast:
13	chr12:76098531..76101496-chr12:76371674..76373378,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257453	Chromatin interaction
ENSG00000257839	Chromatin interaction
ENSG00000139289	Chromatin interaction
ENSG00000258088	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10785203	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10879958	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10879961	0.87[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10879962	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs10879964	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180635	0.87[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11180636	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11180642	0.82[CEU][hapmap]
rs11180645	0.83[CHB][hapmap]
rs12296932	0.83[CEU][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs4264187	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6582297	0.83[CEU][hapmap];0.91[AMR][1000 genomes]
rs7486654	0.83[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7961101	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs7969436	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv899314	chr12:76079814-76110751	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76097000-76101000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr12:76097800-76101000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:76098000-76100800	Enhancers	Fetal Kidney	kidney
4	chr12:76098200-76101000	Enhancers	Fetal Stomach	stomach
5	chr12:76098200-76104000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:76098400-76104600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:76098400-76105200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:76098600-76101000	Enhancers	HSMM	muscle
9	chr12:76098600-76101800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:76098800-76104600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:76098800-76105000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:76098800-76114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:76098800-76114400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:76099200-76101000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:76099200-76101800	Enhancers	NHLF	lung
16	chr12:76099200-76102200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:76099400-76100800	Enhancers	Colon Smooth Muscle	Colon
18	chr12:76099400-76100800	Enhancers	Rectal Smooth Muscle	rectum
19	chr12:76099400-76100800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr12:76099400-76101000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:76099400-76101000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:76099400-76101000	Enhancers	Fetal Lung	lung
23	chr12:76099400-76101000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr12:76099400-76101000	Enhancers	HSMMtube	muscle
25	chr12:76099400-76101000	Enhancers	NH-A	brain
26	chr12:76099400-76101400	Enhancers	Fetal Muscle Leg	muscle
27	chr12:76099600-76100800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:76099600-76100800	Flanking Active TSS	HUVEC	blood vessel
29	chr12:76099600-76101000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:76099600-76101000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr12:76099600-76101600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr12:76099600-76110800	Enhancers	HepG2	liver
33	chr12:76099800-76100800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:76099800-76101000	Enhancers	Dnd41	blood
35	chr12:76099800-76101600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:76099800-76103000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:76099800-76103600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:76100000-76100800	Enhancers	Small Intestine	intestine
39	chr12:76100000-76101000	Enhancers	Adipose Nuclei	Adipose
40	chr12:76100000-76106800	Weak transcription	Right Ventricle	heart
41	chr12:76100000-76115200	Weak transcription	Pancreas	Pancrea
42	chr12:76100200-76100800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:76100200-76101000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:76100200-76101000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr12:76100200-76101000	Enhancers	Stomach Mucosa	stomach
46	chr12:76100200-76101600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:76100200-76104600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:76100400-76100800	Flanking Active TSS	NHDF-Ad	bronchial
49	chr12:76100400-76101000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:76100400-76101000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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