Variant report

Variant	rs6806608
Chromosome Location	chr3:134265843-134265844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10804633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10935122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12632372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4396934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4440162	1.00[AMR][1000 genomes]
rs4560339	1.00[AMR][1000 genomes]
rs4596189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4955477	1.00[AMR][1000 genomes]
rs4955535	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4955549	1.00[AMR][1000 genomes]
rs6439485	1.00[AMR][1000 genomes]
rs6439486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6439490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6439505	1.00[AMR][1000 genomes]
rs6776208	1.00[AMR][1000 genomes]
rs6777283	1.00[AMR][1000 genomes]
rs6805568	1.00[AMR][1000 genomes]
rs6805896	1.00[AMR][1000 genomes]
rs7356009	1.00[AMR][1000 genomes]
rs7372999	1.00[AMR][1000 genomes]
rs7373651	1.00[AFR][1000 genomes]
rs7609638	1.00[AMR][1000 genomes]
rs7609727	1.00[AMR][1000 genomes]
rs7633582	1.00[AMR][1000 genomes]
rs9289473	1.00[AMR][1000 genomes]
rs9289477	1.00[AMR][1000 genomes]
rs9844020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9870217	1.00[AFR][1000 genomes];1.00[AMR][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	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1002382	chr3:134239191-134358001	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134236200-134267000	Weak transcription	HSMM	muscle
2	chr3:134244800-134269600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:134246200-134280800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:134246600-134269200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:134246600-134281800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:134249600-134268600	Weak transcription	Fetal Kidney	kidney
7	chr3:134250400-134269400	Weak transcription	Psoas Muscle	Psoas
8	chr3:134250400-134269600	Weak transcription	HMEC	breast
9	chr3:134250400-134282000	Weak transcription	Stomach Mucosa	stomach
10	chr3:134251000-134268400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:134252600-134266600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:134253200-134280000	Weak transcription	NH-A	brain
13	chr3:134254600-134266600	Weak transcription	NHLF	lung
14	chr3:134256400-134267400	Weak transcription	K562	blood
15	chr3:134256600-134266800	Weak transcription	NHDF-Ad	bronchial
16	chr3:134256600-134269000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:134256600-134269200	Weak transcription	Colonic Mucosa	Colon
18	chr3:134256600-134287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:134256800-134266600	Weak transcription	Small Intestine	intestine
20	chr3:134256800-134266800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:134256800-134268400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:134256800-134269000	Weak transcription	Spleen	Spleen
23	chr3:134256800-134269000	Weak transcription	HepG2	liver
24	chr3:134256800-134269200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:134256800-134269200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:134256800-134269200	Weak transcription	Aorta	Aorta
27	chr3:134256800-134269200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:134256800-134269400	Weak transcription	Brain Germinal Matrix	brain
29	chr3:134256800-134271000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:134256800-134274400	Weak transcription	Fetal Heart	heart
31	chr3:134256800-134274800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr3:134256800-134280800	Weak transcription	Right Ventricle	heart
33	chr3:134257000-134269200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:134257400-134271000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr3:134257600-134266200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:134257600-134267000	Weak transcription	Hela-S3	cervix
37	chr3:134258000-134271000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:134258200-134266000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:134260000-134266200	Weak transcription	Pancreas	Pancrea
40	chr3:134262800-134272800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr3:134263800-134271000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:134263800-134272800	Strong transcription	Primary T cells from cord blood	blood
43	chr3:134264000-134266800	Strong transcription	Esophagus	oesophagus
44	chr3:134264000-134267200	Strong transcription	Fetal Intestine Large	intestine
45	chr3:134264000-134271400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr3:134264000-134272200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr3:134264200-134266000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:134264200-134266000	Strong transcription	Colon Smooth Muscle	Colon
49	chr3:134264200-134267600	Strong transcription	Left Ventricle	heart
50	chr3:134264200-134272600	Strong transcription	Dnd41	blood

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