Variant report

Variant	rs59012190
Chromosome Location	chr8:131419988-131419989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131419011..131421819-chr8:131431981..131433568,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73711204	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
2	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:131408000-131422200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:131409200-131422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:131409200-131424000	Weak transcription	Right Ventricle	heart
8	chr8:131409200-131426400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:131409400-131421800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:131409600-131428400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:131410000-131423200	Weak transcription	Adipose Nuclei	Adipose
13	chr8:131410000-131423200	Weak transcription	Ovary	ovary
14	chr8:131411200-131420400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:131414400-131431400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:131414600-131422000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:131414600-131431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:131414800-131422000	Weak transcription	Fetal Heart	heart
19	chr8:131415200-131420400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:131416600-131420600	Enhancers	NHLF	lung
21	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
22	chr8:131417200-131428000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:131417400-131422800	Weak transcription	NH-A	brain
24	chr8:131417600-131420400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:131417600-131422600	Weak transcription	HSMMtube	muscle
26	chr8:131417800-131420400	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:131418000-131420400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:131418000-131420800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:131418000-131421600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:131418000-131422800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:131418000-131422800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:131418000-131422800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:131418000-131423600	Weak transcription	HepG2	liver
34	chr8:131418600-131428200	Weak transcription	HMEC	breast
35	chr8:131419000-131420000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:131419000-131420800	Enhancers	Osteobl	bone
37	chr8:131419200-131420000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:131419200-131420200	Enhancers	NHDF-Ad	bronchial
39	chr8:131419200-131420400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:131419400-131420000	Enhancers	Lung	lung
41	chr8:131419400-131420600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:131419400-131420600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:131419400-131420800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:131419400-131421600	Weak transcription	A549	lung
45	chr8:131419600-131420000	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr8:131419600-131420000	Flanking Active TSS	HUVEC	blood vessel
47	chr8:131419600-131420400	Weak transcription	Brain Anterior Caudate	brain
48	chr8:131419600-131420600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr8:131419600-131423400	Weak transcription	NHEK	skin
50	chr8:131419800-131420000	Strong transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links