Variant report

Variant	rs17742685
Chromosome Location	chr2:174118494-174118495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11890326	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12104676	1.00[CHB][hapmap]
rs1345008	1.00[CHB][hapmap]
rs16861417	0.82[CEU][hapmap]
rs16861437	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs17691367	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs17691660	0.92[ASN][1000 genomes]
rs17691726	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs17742715	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs3754737	0.82[CEU][hapmap]
rs3820831	0.82[CEU][hapmap]
rs7425411	1.00[CHB][hapmap]
rs7588472	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602590	0.92[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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
2	chr2:174083800-174119200	Weak transcription	HMEC	breast
3	chr2:174096000-174128800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:174096600-174128800	Weak transcription	Pancreas	Pancrea
5	chr2:174096600-174130800	Weak transcription	Gastric	stomach
6	chr2:174098000-174128800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:174098000-174130600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:174098200-174124000	Weak transcription	NH-A	brain
9	chr2:174098400-174125600	Weak transcription	Right Ventricle	heart
10	chr2:174098800-174124000	Weak transcription	Dnd41	blood
11	chr2:174099000-174124000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:174099400-174123600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:174099600-174120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:174099600-174123400	Weak transcription	A549	lung
15	chr2:174099600-174134400	Weak transcription	Placenta	Placenta
16	chr2:174100400-174123400	Weak transcription	NHDF-Ad	bronchial
17	chr2:174101600-174119400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:174101600-174136400	Weak transcription	Hela-S3	cervix
19	chr2:174101800-174136200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:174102800-174120800	Weak transcription	Fetal Stomach	stomach
21	chr2:174103600-174123400	Weak transcription	Osteobl	bone
22	chr2:174103800-174124000	Weak transcription	K562	blood
23	chr2:174103800-174129000	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:174105000-174133400	Weak transcription	NHLF	lung
25	chr2:174105000-174134400	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:174105200-174123800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:174105600-174123600	Weak transcription	Left Ventricle	heart
28	chr2:174105800-174124000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:174106200-174122600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:174106600-174124000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:174106600-174125200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:174106800-174123400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:174106800-174123600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:174106800-174124000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:174106800-174124200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:174106800-174125600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:174106800-174128400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:174107000-174125400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:174108200-174128600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:174110200-174123400	Weak transcription	Liver	Liver
41	chr2:174111600-174129000	Weak transcription	Small Intestine	intestine
42	chr2:174111800-174123400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:174111800-174123600	Weak transcription	Fetal Intestine Large	intestine
44	chr2:174111800-174124000	Weak transcription	Ovary	ovary
45	chr2:174111800-174124800	Weak transcription	Fetal Intestine Small	intestine
46	chr2:174111800-174125200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:174113000-174130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:174113200-174119000	Weak transcription	NHEK	skin
49	chr2:174115400-174119400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:174115400-174119600	Enhancers	Brain Germinal Matrix	brain

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