Variant report

Variant	rs7131792
Chromosome Location	chr12:116864089-116864090
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:116827950..116828800-chr12:116863907..116864697,2	MCF-7	breast:
2	chr10:12961921..12963741-chr12:116863676..116865934,2	MCF-7	breast:
3	chr12:116827133..116831140-chr12:116860978..116865806,7	MCF-7	breast:
4	chr12:116713061..116717108-chr12:116860033..116868382,13	MCF-7	breast:
5	chr12:116861189..116865677-chr12:116930751..116933434,4	MCF-7	breast:
6	chr12:116862737..116864575-chr12:117134402..117135902,2	MCF-7	breast:
7	chr12:116862734..116864290-chr12:117037088..117038676,2	MCF-7	breast:
8	chr12:116827904..116828800-chr12:116863907..116864920,4	MCF-7	breast:
9	chr12:116863823..116865402-chr12:116870010..116872543,2	K562	blood:
10	chr12:116842396..116845943-chr12:116861127..116865065,6	MCF-7	breast:
11	chr12:116844478..116845227-chr12:116863820..116864567,2	MCF-7	breast:
12	chr12:116772348..116774581-chr12:116862812..116865326,2	MCF-7	breast:
13	chr12:116862474..116864567-chr12:116876098..116878521,3	MCF-7	breast:
14	chr12:116858970..116860681-chr12:116862728..116865463,2	MCF-7	breast:
15	chr12:116847212..116851109-chr12:116861228..116866038,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123066	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10735091	0.83[EUR][1000 genomes]
rs10774856	0.91[EUR][1000 genomes]
rs10774857	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10850627	0.91[EUR][1000 genomes]
rs2393039	0.92[EUR][1000 genomes]
rs4767403	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7315837	0.83[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9300331	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv973993	chr12:116861012-116874861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116860200-116864400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:116861400-116864800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:116861600-116864200	Weak transcription	Fetal Intestine Large	intestine
4	chr12:116862400-116865600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:116862400-116865800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:116863000-116864800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:116863000-116867200	Enhancers	Placenta	Placenta
8	chr12:116863200-116864400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:116863200-116864600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:116863200-116864800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:116863200-116865000	Enhancers	Osteobl	bone
12	chr12:116863200-116865200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:116863200-116865400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:116863200-116865800	Enhancers	NHEK	skin
15	chr12:116863200-116866000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:116863200-116866200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr12:116863200-116866800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:116863400-116866000	Enhancers	NHDF-Ad	bronchial
19	chr12:116863400-116866400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:116863400-116866800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:116863600-116864200	Enhancers	Fetal Muscle Trunk	muscle
22	chr12:116863600-116865000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:116863600-116865000	Enhancers	Adipose Nuclei	Adipose
24	chr12:116863600-116865000	Enhancers	NH-A	brain
25	chr12:116863600-116865000	Enhancers	NHLF	lung
26	chr12:116863600-116865200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:116863600-116865400	Enhancers	Ovary	ovary
28	chr12:116863600-116865600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:116863600-116865600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:116863600-116865600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:116863600-116865600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:116863600-116866800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:116863800-116864200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
34	chr12:116863800-116864200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:116863800-116864200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:116863800-116864800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:116863800-116865000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:116863800-116865200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:116863800-116865200	Enhancers	Fetal Stomach	stomach
40	chr12:116863800-116865400	Enhancers	HSMM	muscle
41	chr12:116863800-116865400	Enhancers	HSMMtube	muscle
42	chr12:116863800-116865600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:116863800-116865800	Flanking Active TSS	A549	lung
44	chr12:116863800-116866000	Enhancers	HMEC	breast
45	chr12:116863800-116866800	Enhancers	K562	blood
46	chr12:116864000-116864400	Enhancers	Fetal Brain Male	brain
47	chr12:116864000-116864400	Weak transcription	Spleen	Spleen
48	chr12:116864000-116864800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr12:116864000-116865000	Enhancers	Hela-S3	cervix
50	chr12:116864000-116865400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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