Variant report

Variant	rs12673546
Chromosome Location	chr7:80505821-80505822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80487641..80491153-chr7:80504899..80508832,4	MCF-7	breast:
2	chr7:80504329..80507281-chr7:80544087..80545710,2	MCF-7	breast:
3	chr7:80499212..80501744-chr7:80504757..80507293,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11977933	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12666421	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12670659	1.00[ASN][1000 genomes]
rs12671203	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16886865	1.00[ASN][1000 genomes]
rs4731944	1.00[CHB][hapmap]
rs767185	1.00[CHB][hapmap]
rs853059	1.00[CHB][hapmap]

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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80460400-80514600	Weak transcription	Left Ventricle	heart
2	chr7:80471800-80532600	Weak transcription	Fetal Stomach	stomach
3	chr7:80484800-80506200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:80499600-80506200	Weak transcription	NH-A	brain
5	chr7:80499600-80512600	Weak transcription	Ovary	ovary
6	chr7:80500200-80526200	Weak transcription	Psoas Muscle	Psoas
7	chr7:80500200-80534200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:80500400-80506200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:80500400-80506200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:80500400-80506200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:80500400-80512400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:80500400-80514600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:80500600-80506200	Weak transcription	Fetal Brain Male	brain
14	chr7:80500800-80506200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:80501000-80506000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:80501000-80506200	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:80501000-80506200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:80501000-80506200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:80501000-80512200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:80501000-80513000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:80501000-80513800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:80501200-80506000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:80502400-80506000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:80502400-80506200	Strong transcription	Fetal Muscle Leg	muscle
25	chr7:80502400-80506200	Strong transcription	HMEC	breast
26	chr7:80502400-80506200	Strong transcription	NHLF	lung
27	chr7:80502800-80506200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:80502800-80506200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:80502800-80509800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:80503000-80510400	Weak transcription	Placenta	Placenta
31	chr7:80503200-80506200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:80503200-80506400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:80503400-80506200	Weak transcription	Fetal Intestine Large	intestine
34	chr7:80503600-80506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:80503600-80506000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:80503600-80506000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:80503600-80506000	Weak transcription	NHDF-Ad	bronchial
38	chr7:80503600-80506200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:80504200-80506000	Strong transcription	HSMMtube	muscle
40	chr7:80504400-80506200	Weak transcription	Fetal Intestine Small	intestine
41	chr7:80504400-80506200	Weak transcription	Lung	lung
42	chr7:80505200-80506200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:80505200-80506200	Weak transcription	NHEK	skin
44	chr7:80505400-80506000	Weak transcription	A549	lung
45	chr7:80505400-80506200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:80505400-80506400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:80505400-80508600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:80505600-80506000	Weak transcription	Fetal Brain Female	brain
49	chr7:80505600-80506800	Enhancers	Adipose Nuclei	Adipose
50	chr7:80505600-80506800	Genic enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links