Variant report

Variant	rs6709841
Chromosome Location	chr2:183770444-183770445
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10177344	0.88[CHB][hapmap]
rs10187800	0.89[CHB][hapmap]
rs10497618	0.88[CHB][hapmap]
rs13399354	0.89[CHB][hapmap]
rs16823916	0.81[EUR][1000 genomes]
rs16823924	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs16823929	0.85[EUR][1000 genomes]
rs2368352	0.89[CHB][hapmap]
rs3791247	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs3817313	0.88[EUR][1000 genomes]
rs57203160	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7510	0.88[CHB][hapmap]
rs9333279	0.89[CHB][hapmap]

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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1006265	chr2:183666013-183777604	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv536071	chr2:183666013-183777604	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183752400-183772000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:183755000-183772200	Weak transcription	HSMM	muscle
3	chr2:183757000-183773800	Weak transcription	Fetal Intestine Large	intestine
4	chr2:183757400-183797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:183758800-183771600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:183759000-183772000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:183759000-183774000	Weak transcription	Left Ventricle	heart
8	chr2:183759200-183772200	Weak transcription	Fetal Intestine Small	intestine
9	chr2:183759200-183775000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:183759200-183775200	Weak transcription	Pancreas	Pancrea
11	chr2:183759600-183774400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:183759600-183777000	Weak transcription	HSMMtube	muscle
13	chr2:183759800-183771800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:183759800-183774000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:183760000-183774000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:183762000-183778000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:183762200-183774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:183762400-183772200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:183762400-183775000	Weak transcription	Osteobl	bone
20	chr2:183762400-183775200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:183762600-183775800	Weak transcription	NHDF-Ad	bronchial
22	chr2:183762600-183778000	Weak transcription	NHLF	lung
23	chr2:183762800-183772000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:183764200-183772200	Weak transcription	Fetal Stomach	stomach
25	chr2:183765000-183774400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:183765000-183774800	Weak transcription	Esophagus	oesophagus
27	chr2:183765200-183792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:183765600-183805200	Weak transcription	Gastric	stomach
29	chr2:183766400-183772000	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:183766600-183774000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:183766800-183772000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:183766800-183772000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:183766800-183772000	Weak transcription	Lung	lung
34	chr2:183766800-183772000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:183766800-183774800	Weak transcription	Psoas Muscle	Psoas
36	chr2:183766800-183779400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:183767000-183776800	Weak transcription	Spleen	Spleen
38	chr2:183767200-183772000	Weak transcription	K562	blood
39	chr2:183767200-183772200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:183767200-183772200	Weak transcription	HUVEC	blood vessel
41	chr2:183767800-183772200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:183768200-183775200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:183768400-183771200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:183768400-183774600	Weak transcription	Placenta	Placenta
45	chr2:183768600-183775200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:183768600-183777800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:183768600-183778200	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:183768600-183779800	Weak transcription	Fetal Heart	heart
49	chr2:183768600-183811600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:183768800-183773800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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