Variant report

Variant	rs7646340
Chromosome Location	chr3:111588879-111588880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12487229	1.00[EUR][1000 genomes]
rs12488995	1.00[EUR][1000 genomes]
rs1392329	0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16858719	1.00[EUR][1000 genomes]
rs16858743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16858745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16858748	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16858764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4396866	1.00[EUR][1000 genomes]
rs57738321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58242934	1.00[EUR][1000 genomes]
rs7632432	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111579800-111589000	Weak transcription	Pancreas	Pancrea
2	chr3:111580000-111589200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:111581400-111593800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:111582200-111593200	Weak transcription	Lung	lung
5	chr3:111583800-111591200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:111584400-111589200	Enhancers	Colon Smooth Muscle	Colon
7	chr3:111584400-111589800	Enhancers	Rectal Smooth Muscle	rectum
8	chr3:111584400-111591000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:111584600-111590800	Weak transcription	Fetal Kidney	kidney
10	chr3:111584600-111591000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:111584600-111593200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:111584600-111603400	Weak transcription	Fetal Intestine Large	intestine
13	chr3:111584800-111591200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:111585200-111589000	Weak transcription	NHLF	lung
15	chr3:111585200-111591200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:111585200-111591200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:111585200-111591200	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:111585200-111591200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:111585200-111622000	Weak transcription	HSMMtube	muscle
20	chr3:111585400-111591000	Weak transcription	Ovary	ovary
21	chr3:111585400-111592800	Weak transcription	HSMM	muscle
22	chr3:111585400-111593400	Weak transcription	Psoas Muscle	Psoas
23	chr3:111585400-111603400	Weak transcription	Spleen	Spleen
24	chr3:111585400-111609000	Weak transcription	Esophagus	oesophagus
25	chr3:111585600-111589000	Enhancers	Adipose Nuclei	Adipose
26	chr3:111585600-111589800	Enhancers	Stomach Smooth Muscle	stomach
27	chr3:111585600-111591000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:111585600-111592400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:111585800-111589600	Weak transcription	Small Intestine	intestine
30	chr3:111586400-111593000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:111587000-111589800	Genic enhancers	NH-A	brain
32	chr3:111587000-111590200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:111587000-111591200	Weak transcription	Right Atrium	heart
34	chr3:111587000-111591400	Enhancers	Fetal Heart	heart
35	chr3:111587000-111591600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:111587200-111589200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:111587200-111589400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr3:111587200-111590400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr3:111587200-111590800	Weak transcription	Right Ventricle	heart
40	chr3:111587200-111591000	Weak transcription	Aorta	Aorta
41	chr3:111587200-111593000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:111587200-111593200	Weak transcription	Gastric	stomach
43	chr3:111587200-111597200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:111587200-111603000	Weak transcription	Placenta	Placenta
45	chr3:111587400-111589400	Weak transcription	Osteobl	bone
46	chr3:111587600-111589600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr3:111587600-111589600	Strong transcription	NHEK	skin
48	chr3:111587600-111590000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:111587600-111590200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:111587800-111589400	Genic enhancers	Hela-S3	cervix

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