Variant report

Variant	rs62518594
Chromosome Location	chr8:124683912-124683913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124678619..124681390-chr8:124681929..124684973,3	K562	blood:
2	chr8:124674081..124675971-chr8:124683411..124685005,2	MCF-7	breast:
3	chr8:124553226..124555664-chr8:124681802..124684718,3	MCF-7	breast:
4	chr8:124682726..124685073-chr8:124688160..124690901,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156804	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17255623	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4439107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61730397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61910739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518565	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62518567	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62518568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124673400-124684200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:124676200-124689800	Weak transcription	Esophagus	oesophagus
3	chr8:124680400-124684200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:124680400-124684400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:124680600-124684200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:124680600-124684200	Enhancers	Stomach Smooth Muscle	stomach
7	chr8:124680600-124684200	Enhancers	NH-A	brain
8	chr8:124680600-124684200	Enhancers	Osteobl	bone
9	chr8:124680600-124684400	Enhancers	HMEC	breast
10	chr8:124680800-124684200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:124680800-124684200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:124680800-124684200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:124681000-124684200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:124681000-124684600	Enhancers	NHDF-Ad	bronchial
15	chr8:124681200-124684000	Enhancers	Brain Hippocampus Middle	brain
16	chr8:124681200-124684200	Enhancers	Ovary	ovary
17	chr8:124681200-124684800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:124681400-124684400	Enhancers	Fetal Intestine Small	intestine
19	chr8:124681600-124684200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:124682400-124686600	Weak transcription	Fetal Heart	heart
21	chr8:124682600-124684000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr8:124682600-124684200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:124682600-124684200	Enhancers	HSMM	muscle
24	chr8:124682600-124684200	Enhancers	NHEK	skin
25	chr8:124682600-124684400	Enhancers	Fetal Intestine Large	intestine
26	chr8:124683000-124684200	Enhancers	HUVEC	blood vessel
27	chr8:124683200-124684000	Flanking Active TSS	A549	lung
28	chr8:124683200-124684200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:124683200-124684200	Enhancers	Colon Smooth Muscle	Colon
30	chr8:124683200-124684200	Enhancers	Hela-S3	cervix
31	chr8:124683400-124684000	Enhancers	Brain Anterior Caudate	brain
32	chr8:124683400-124684000	Enhancers	Brain Substantia Nigra	brain
33	chr8:124683400-124684000	Enhancers	Duodenum Mucosa	Duodenum
34	chr8:124683400-124684000	Enhancers	Stomach Mucosa	stomach
35	chr8:124683400-124684000	Enhancers	HSMMtube	muscle
36	chr8:124683400-124684200	Enhancers	Brain Cingulate Gyrus	brain
37	chr8:124683400-124684200	Enhancers	Psoas Muscle	Psoas
38	chr8:124683400-124684200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr8:124683400-124684200	Enhancers	NHLF	lung
40	chr8:124683600-124684000	Enhancers	Adipose Nuclei	Adipose
41	chr8:124683600-124684200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:124683600-124684200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:124683600-124684200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:124683600-124684200	Enhancers	Brain Angular Gyrus	brain
45	chr8:124683600-124684200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:124683600-124684200	Enhancers	Placenta	Placenta
47	chr8:124683600-124684200	Enhancers	Left Ventricle	heart
48	chr8:124683600-124684200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr8:124683600-124684200	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr8:124683600-124684200	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links