Variant report

Variant	rs55688638
Chromosome Location	chr8:124701193-124701194
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124699483..124702834-chr8:124703972..124707489,4	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]
rs72713125	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124689800-124702600	Weak transcription	Small Intestine	intestine
2	chr8:124693200-124706800	Enhancers	Fetal Stomach	stomach
3	chr8:124693600-124701800	Weak transcription	A549	lung
4	chr8:124693800-124702400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:124694000-124702600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:124694200-124707400	Enhancers	Colon Smooth Muscle	Colon
7	chr8:124695000-124702200	Strong transcription	Fetal Intestine Small	intestine
8	chr8:124696200-124705200	Enhancers	Ovary	ovary
9	chr8:124696200-124707400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:124696400-124701200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr8:124696400-124707400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:124697200-124702600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:124697200-124702600	Strong transcription	Fetal Intestine Large	intestine
14	chr8:124697400-124701600	Weak transcription	Stomach Mucosa	stomach
15	chr8:124697400-124705200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:124697600-124702600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr8:124697800-124701200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr8:124697800-124701800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:124697800-124706800	Enhancers	Fetal Heart	heart
20	chr8:124698000-124702000	Weak transcription	Fetal Lung	lung
21	chr8:124698400-124704400	Weak transcription	Fetal Kidney	kidney
22	chr8:124698800-124706600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:124698800-124706800	Enhancers	HMEC	breast
24	chr8:124698800-124707200	Enhancers	HSMMtube	muscle
25	chr8:124699000-124703400	Enhancers	Aorta	Aorta
26	chr8:124699000-124703600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:124699200-124702600	Weak transcription	Esophagus	oesophagus
28	chr8:124699600-124702200	Weak transcription	Pancreas	Pancrea
29	chr8:124699600-124702200	Weak transcription	NHDF-Ad	bronchial
30	chr8:124699800-124701200	Weak transcription	NHLF	lung
31	chr8:124699800-124701600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:124699800-124702000	Weak transcription	NH-A	brain
33	chr8:124699800-124702200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:124700000-124701800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:124700000-124701800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:124700000-124702200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:124700200-124701200	Enhancers	Psoas Muscle	Psoas
38	chr8:124700200-124701600	Enhancers	Stomach Smooth Muscle	stomach
39	chr8:124700200-124701800	Weak transcription	Osteobl	bone
40	chr8:124700200-124702200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:124700200-124702200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:124700200-124702200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:124700200-124702200	Weak transcription	Left Ventricle	heart
44	chr8:124700200-124702200	Weak transcription	Right Atrium	heart
45	chr8:124700400-124701600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:124700400-124701800	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:124700400-124702000	Weak transcription	HSMM	muscle
48	chr8:124700400-124702200	Weak transcription	Brain Anterior Caudate	brain
49	chr8:124700400-124702600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:124700400-124702600	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links