Variant report

Variant	rs6787299
Chromosome Location	chr3:50116468-50116469
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2248256	1.00[AMR][1000 genomes]
rs59790389	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6808017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927506	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944416	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944438	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7620769	1.00[AMR][1000 genomes]
rs7636203	1.00[AMR][1000 genomes]
rs917019	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9756201	0.88[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	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv460527	chr3:50028385-50153356	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv590249	chr3:50028385-50153356	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv834690	chr3:50101835-50267584	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv515986	chr3:50104307-50267584	Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv432418	chr3:50114496-50224196	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv822079	chr3:50116177-50126157	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50084200-50116600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:50104200-50123400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:50106200-50125800	Weak transcription	Stomach Mucosa	stomach
4	chr3:50108800-50126000	Weak transcription	Fetal Heart	heart
5	chr3:50110200-50126000	Weak transcription	NHLF	lung
6	chr3:50110600-50125800	Weak transcription	Small Intestine	intestine
7	chr3:50111000-50125800	Weak transcription	Colonic Mucosa	Colon
8	chr3:50111000-50126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:50111200-50119000	Weak transcription	Fetal Brain Male	brain
10	chr3:50111200-50119800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:50111200-50126200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:50112200-50125800	Weak transcription	K562	blood
13	chr3:50112800-50119600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:50113000-50119400	Weak transcription	Esophagus	oesophagus
15	chr3:50113000-50125800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:50113000-50125800	Weak transcription	A549	lung
17	chr3:50113000-50126000	Weak transcription	NH-A	brain
18	chr3:50113200-50119600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:50113200-50119600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:50113200-50119600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr3:50113200-50119600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr3:50113200-50119600	Weak transcription	HUVEC	blood vessel
23	chr3:50113200-50120200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:50113200-50120200	Weak transcription	Spleen	Spleen
25	chr3:50113200-50125600	Weak transcription	HepG2	liver
26	chr3:50113200-50125800	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:50113200-50125800	Weak transcription	Gastric	stomach
28	chr3:50113200-50125800	Weak transcription	Pancreas	Pancrea
29	chr3:50113200-50125800	Weak transcription	Psoas Muscle	Psoas
30	chr3:50113200-50126200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:50113400-50117800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr3:50113400-50118000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:50113400-50118800	Weak transcription	Primary B cells from cord blood	blood
34	chr3:50113400-50118800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:50113400-50119600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:50113400-50125600	Weak transcription	Dnd41	blood
37	chr3:50113400-50125800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:50113400-50125800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:50113400-50125800	Weak transcription	Brain Substantia Nigra	brain
40	chr3:50113400-50125800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr3:50113400-50125800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:50113400-50125800	Weak transcription	Hela-S3	cervix
43	chr3:50113400-50125800	Weak transcription	HMEC	breast
44	chr3:50113400-50125800	Weak transcription	NHEK	skin
45	chr3:50113400-50126000	Weak transcription	Fetal Kidney	kidney
46	chr3:50113400-50126000	Weak transcription	Fetal Lung	lung
47	chr3:50113400-50126000	Weak transcription	HSMMtube	muscle
48	chr3:50113600-50119600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:50114600-50117200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr3:50114600-50119800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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