Variant report

Variant	rs73417906
Chromosome Location	chr8:131343720-131343721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131338752..131343749-chr8:131347668..131351929,6	K562	blood:
2	chr8:131341482..131343785-chr8:131354519..131356819,2	K562	blood:
3	chr8:131340170..131343751-chr8:131358170..131360964,3	MCF-7	breast:
4	chr8:131342449..131344196-chr8:131369562..131371312,2	MCF-7	breast:

Extended variants
information (count: 29 )
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]
rs73409350	1.00[AFR][1000 genomes]
rs73409355	0.83[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:4 , 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
4	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131315600-131353400	Weak transcription	Dnd41	blood
2	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
3	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:131327000-131345600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
7	chr8:131332600-131344800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:131333200-131344200	Enhancers	NHDF-Ad	bronchial
9	chr8:131334800-131346600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr8:131335200-131347400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:131335400-131344200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:131336000-131350200	Weak transcription	Fetal Brain Female	brain
13	chr8:131336200-131347800	Weak transcription	Liver	Liver
14	chr8:131336600-131346600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:131336800-131344200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:131336800-131353400	Weak transcription	Hela-S3	cervix
17	chr8:131337200-131346800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:131337400-131346000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:131337400-131346200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:131337400-131350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:131338400-131350200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
24	chr8:131338600-131347400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:131338800-131343800	Enhancers	K562	blood
26	chr8:131339200-131346200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:131339600-131344000	Weak transcription	A549	lung
28	chr8:131339600-131344200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:131339600-131346000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:131339600-131346000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:131339600-131351000	Weak transcription	Lung	lung
32	chr8:131339600-131354200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:131339800-131344200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:131339800-131344200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:131339800-131346000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr8:131339800-131346000	Weak transcription	Fetal Thymus	thymus
37	chr8:131339800-131357800	Weak transcription	Esophagus	oesophagus
38	chr8:131340400-131346000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:131340600-131345800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:131340800-131344000	Enhancers	Right Atrium	heart
42	chr8:131340800-131344200	Enhancers	Psoas Muscle	Psoas
43	chr8:131341000-131344000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:131341000-131344400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:131341000-131346600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:131341000-131350200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:131341200-131343800	Enhancers	Fetal Muscle Leg	muscle
48	chr8:131341200-131344000	Genic enhancers	HSMM	muscle
49	chr8:131341200-131344400	Enhancers	Colon Smooth Muscle	Colon
50	chr8:131341200-131349000	Enhancers	Fetal Heart	heart

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