Variant report

Variant	rs72713125
Chromosome Location	chr8:124691804-124691805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124474442..124476967-chr8:124689689..124692610,2	MCF-7	breast:
2	chr8:124553519..124555734-chr8:124689703..124692521,2	MCF-7	breast:
3	chr8:124570137..124572022-chr8:124691022..124692665,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16898680	1.00[AFR][1000 genomes]
rs55688638	1.00[AFR][1000 genomes]
rs72715074	1.00[AFR][1000 genomes]

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	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124684400-124692400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:124688800-124692600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:124688800-124695800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:124689000-124692600	Enhancers	NHEK	skin
5	chr8:124689000-124693200	Enhancers	HMEC	breast
6	chr8:124689000-124693800	Enhancers	NHDF-Ad	bronchial
7	chr8:124689200-124693200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:124689200-124694000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:124689400-124693400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:124689400-124693800	Enhancers	HSMM	muscle
11	chr8:124689600-124692600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:124689600-124692600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:124689600-124694000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:124689800-124692200	Weak transcription	Fetal Intestine Large	intestine
15	chr8:124689800-124692400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:124689800-124702600	Weak transcription	Small Intestine	intestine
17	chr8:124690200-124692200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:124690200-124693200	Weak transcription	Fetal Heart	heart
19	chr8:124690600-124692600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:124690600-124692600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:124691000-124693800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:124691200-124693000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:124691200-124693400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:124691200-124693600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:124691400-124692400	Weak transcription	Osteobl	bone
26	chr8:124691400-124694000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:124691600-124692200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:124691600-124697600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:124691800-124692200	Weak transcription	HSMMtube	muscle
30	chr8:124691800-124693200	Weak transcription	Fetal Intestine Small	intestine
31	chr8:124691800-124693400	Enhancers	Aorta	Aorta
32	chr8:124691800-124693400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr8:124691800-124693400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:124691800-124693800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:124691800-124694000	Enhancers	NH-A	brain
36	chr8:124691800-124694200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links