Variant report

Variant	rs73409350
Chromosome Location	chr8:131327860-131327861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56928931	0.83[AFR][1000 genomes]
rs57129132	0.83[AFR][1000 genomes]
rs59496740	0.83[AFR][1000 genomes]
rs73409308	1.00[AFR][1000 genomes]
rs73409312	1.00[AFR][1000 genomes]
rs73409315	0.83[AFR][1000 genomes]
rs73409341	1.00[AFR][1000 genomes]
rs73409344	1.00[AFR][1000 genomes]
rs73409355	0.83[AFR][1000 genomes]
rs73417906	1.00[AFR][1000 genomes]
rs73417935	1.00[AFR][1000 genomes]
rs73417940	0.83[AFR][1000 genomes]
rs73417948	1.00[AFR][1000 genomes]
rs73417951	1.00[AFR][1000 genomes]
rs73425601	1.00[AFR][1000 genomes]
rs73427323	1.00[AFR][1000 genomes]
rs73427331	1.00[AFR][1000 genomes]
rs73427358	0.83[AFR][1000 genomes]
rs73427361	0.83[AFR][1000 genomes]
rs73427414	1.00[AFR][1000 genomes]
rs73427426	1.00[AFR][1000 genomes]
rs73427428	1.00[AFR][1000 genomes]
rs73427429	1.00[AFR][1000 genomes]
rs73427430	1.00[AFR][1000 genomes]
rs73427432	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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
6	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131307000-131329600	Weak transcription	Aorta	Aorta
2	chr8:131310800-131328200	Weak transcription	Lung	lung
3	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
4	chr8:131315600-131331600	Weak transcription	Thymus	Thymus
5	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:131315600-131353400	Weak transcription	Dnd41	blood
7	chr8:131319400-131333600	Weak transcription	HepG2	liver
8	chr8:131319800-131329800	Weak transcription	Right Ventricle	heart
9	chr8:131322000-131328800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:131322000-131329000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:131322000-131335000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:131322000-131338200	Weak transcription	Esophagus	oesophagus
13	chr8:131322200-131328800	Weak transcription	Small Intestine	intestine
14	chr8:131323400-131329600	Weak transcription	Brain Angular Gyrus	brain
15	chr8:131323400-131329800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:131323400-131329800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
18	chr8:131323600-131331600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:131324800-131328400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:131325000-131328200	Enhancers	NHEK	skin
22	chr8:131325000-131328200	Enhancers	NHLF	lung
23	chr8:131325000-131330200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:131325200-131330000	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:131325200-131335800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:131325200-131336200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:131325800-131332200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr8:131326000-131328000	Enhancers	Fetal Muscle Leg	muscle
29	chr8:131326000-131328200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr8:131326000-131328400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:131326000-131328800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:131326000-131330600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:131326200-131328400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:131326200-131330400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:131326200-131333400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:131326400-131328000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:131326400-131328200	Enhancers	Adipose Nuclei	Adipose
38	chr8:131326400-131329800	Weak transcription	NH-A	brain
39	chr8:131326400-131330000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:131326400-131330000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:131326400-131330600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:131326400-131331000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:131326400-131331200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:131326400-131333200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:131326400-131336200	Weak transcription	Hela-S3	cervix
46	chr8:131326600-131328200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:131326600-131329600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:131326600-131329800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:131326600-131329800	Weak transcription	HSMMtube	muscle
50	chr8:131326600-131330000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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