Variant report

Variant	rs73530990
Chromosome Location	chr8:10031473-10031474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10096931	1.00[EUR][1000 genomes]
rs17151307	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990362	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1850829	chr8:9958321-10045451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv890344	chr8:9995515-10060638	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9996600-10036200	Weak transcription	Primary T cells from cord blood	blood
2	chr8:10028200-10039000	Enhancers	Fetal Brain Male	brain
3	chr8:10028800-10032600	Weak transcription	Fetal Intestine Small	intestine
4	chr8:10029200-10034200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:10029600-10034400	Enhancers	Fetal Brain Female	brain
6	chr8:10030000-10031600	Enhancers	Brain Germinal Matrix	brain
7	chr8:10030200-10031600	Enhancers	Left Ventricle	heart
8	chr8:10030400-10031600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:10030400-10031600	Enhancers	Fetal Lung	lung
10	chr8:10030400-10031800	Enhancers	Fetal Stomach	stomach
11	chr8:10030400-10031800	Enhancers	Rectal Smooth Muscle	rectum
12	chr8:10030400-10032000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:10030600-10031600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:10030600-10031800	Enhancers	Fetal Muscle Leg	muscle
15	chr8:10030600-10032000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:10030600-10032400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:10030800-10031600	Enhancers	Brain Anterior Caudate	brain
18	chr8:10030800-10031600	Enhancers	Brain Cingulate Gyrus	brain
19	chr8:10030800-10031600	Enhancers	NHLF	lung
20	chr8:10030800-10032400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:10031000-10031600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr8:10031000-10031600	Enhancers	Fetal Heart	heart
23	chr8:10031000-10031600	Enhancers	Fetal Muscle Trunk	muscle
24	chr8:10031000-10033800	Weak transcription	Brain Substantia Nigra	brain
25	chr8:10031200-10031600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:10031200-10031600	Enhancers	Adipose Nuclei	Adipose
27	chr8:10031200-10031600	Enhancers	Brain Angular Gyrus	brain
28	chr8:10031200-10031600	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr8:10031200-10031600	Enhancers	NHDF-Ad	bronchial
30	chr8:10031200-10032200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr8:10031200-10032400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:10031400-10031600	Enhancers	Brain Hippocampus Middle	brain
33	chr8:10031400-10031600	Active TSS	Stomach Smooth Muscle	stomach
34	chr8:10031400-10033800	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links