Variant report

Variant	rs719315
Chromosome Location	chr6:16672586-16672587
allele	A/G
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:6)

rs_ID	r²[population]
rs10949374	0.91[ASN][1000 genomes]
rs17669356	0.81[EUR][1000 genomes]
rs2073513	0.93[ASN][1000 genomes]
rs2073515	0.87[ASN][1000 genomes]
rs3793100	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3828864	0.95[ASN][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	nsv532022	chr6:16448152-16825567	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1031423	chr6:16467215-16823725	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1015992	chr6:16469059-16846847	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538148	chr6:16469059-16846847	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16636800-16672600	Weak transcription	Gastric	stomach
2	chr6:16653800-16675000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:16662200-16684000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:16662200-16684000	Weak transcription	Placenta	Placenta
5	chr6:16662200-16685200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:16662200-16699600	Weak transcription	Fetal Intestine Large	intestine
7	chr6:16662400-16699600	Weak transcription	Fetal Intestine Small	intestine
8	chr6:16667400-16674400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr6:16667800-16673200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:16668800-16672800	Enhancers	Hela-S3	cervix
11	chr6:16669200-16672600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:16669200-16672600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:16669200-16672800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr6:16669200-16672800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:16669200-16672800	Enhancers	NHEK	skin
16	chr6:16669200-16673000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:16669200-16674400	Enhancers	HepG2	liver
18	chr6:16669400-16672600	Enhancers	Brain Hippocampus Middle	brain
19	chr6:16669400-16672800	Enhancers	Rectal Smooth Muscle	rectum
20	chr6:16669400-16673400	Enhancers	Colon Smooth Muscle	Colon
21	chr6:16669600-16685200	Weak transcription	Fetal Kidney	kidney
22	chr6:16669800-16674000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:16669800-16674800	Weak transcription	HSMMtube	muscle
24	chr6:16669800-16677200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:16670200-16676000	Enhancers	Liver	Liver
26	chr6:16670400-16672800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:16670400-16673000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr6:16670400-16674800	Weak transcription	HSMM	muscle
29	chr6:16670400-16683600	Weak transcription	Small Intestine	intestine
30	chr6:16670600-16672600	Weak transcription	Brain Anterior Caudate	brain
31	chr6:16670600-16672600	Weak transcription	Lung	lung
32	chr6:16670600-16672600	Weak transcription	Pancreas	Pancrea
33	chr6:16670600-16672800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:16670600-16672800	Weak transcription	Left Ventricle	heart
35	chr6:16670600-16673000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:16670600-16673200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:16670600-16674800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:16670600-16674800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:16670600-16675000	Weak transcription	Aorta	Aorta
40	chr6:16670600-16675000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:16670600-16675200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:16670600-16675200	Weak transcription	Spleen	Spleen
43	chr6:16670600-16677200	Weak transcription	Right Atrium	heart
44	chr6:16670600-16681400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:16670600-16681800	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:16670800-16673200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:16670800-16673800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:16670800-16674400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:16670800-16674800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:16670800-16674800	Weak transcription	HUVEC	blood vessel

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