Variant report

Variant	rs28715812
Chromosome Location	chr8:124681648-124681649
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124673351..124678204-chr8:124678247..124683296,7	MCF-7	breast:
2	chr8:124680792..124682751-chr8:124780380..124781997,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28424023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28742115	1.00[AMR][1000 genomes]
rs60093890	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324225	1.00[AMR][1000 genomes]
rs73324236	0.97[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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124671200-124681800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:124673400-124684200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:124676200-124689800	Weak transcription	Esophagus	oesophagus
4	chr8:124676800-124681800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr8:124678600-124683600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:124679000-124683600	Weak transcription	Right Ventricle	heart
7	chr8:124680400-124684200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:124680400-124684400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:124680600-124681800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr8:124680600-124683800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:124680600-124684200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:124680600-124684200	Enhancers	Stomach Smooth Muscle	stomach
13	chr8:124680600-124684200	Enhancers	NH-A	brain
14	chr8:124680600-124684200	Enhancers	Osteobl	bone
15	chr8:124680600-124684400	Enhancers	HMEC	breast
16	chr8:124680800-124682000	Enhancers	HSMMtube	muscle
17	chr8:124680800-124682400	Enhancers	Fetal Heart	heart
18	chr8:124680800-124683600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:124680800-124684200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:124680800-124684200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:124680800-124684200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:124681000-124681800	Enhancers	Fetal Stomach	stomach
23	chr8:124681000-124681800	Enhancers	Rectal Smooth Muscle	rectum
24	chr8:124681000-124682000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:124681000-124682000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:124681000-124682200	Enhancers	Brain Substantia Nigra	brain
27	chr8:124681000-124682800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:124681000-124683000	Weak transcription	HUVEC	blood vessel
29	chr8:124681000-124683600	Weak transcription	Placenta	Placenta
30	chr8:124681000-124684200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:124681000-124684600	Enhancers	NHDF-Ad	bronchial
32	chr8:124681200-124681800	Enhancers	Brain Angular Gyrus	brain
33	chr8:124681200-124681800	Enhancers	Fetal Muscle Leg	muscle
34	chr8:124681200-124682200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:124681200-124684000	Enhancers	Brain Hippocampus Middle	brain
36	chr8:124681200-124684200	Enhancers	Ovary	ovary
37	chr8:124681200-124684800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:124681400-124681800	Enhancers	Brain Anterior Caudate	brain
39	chr8:124681400-124681800	Enhancers	Left Ventricle	heart
40	chr8:124681400-124681800	Enhancers	Psoas Muscle	Psoas
41	chr8:124681400-124682200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr8:124681400-124682800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:124681400-124682800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr8:124681400-124683000	Enhancers	NHLF	lung
45	chr8:124681400-124683200	Enhancers	A549	lung
46	chr8:124681400-124684400	Enhancers	Fetal Intestine Small	intestine
47	chr8:124681600-124681800	Enhancers	Colonic Mucosa	Colon
48	chr8:124681600-124681800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr8:124681600-124681800	Enhancers	Small Intestine	intestine
50	chr8:124681600-124682200	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links