Variant report

Variant	rs1617492
Chromosome Location	chr2:40472469-40472470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40472223..40475000-chr2:40477866..40479502,2	K562	blood:

Variant related genes	Relation type
ENSG00000227028	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1012311	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10197174	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10490209	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12612349	0.90[EUR][1000 genomes]
rs1627626	0.80[ASN][1000 genomes]
rs1641454	0.82[ASN][1000 genomes]
rs2540904	0.83[ASN][1000 genomes]
rs28421555	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs367596	0.83[ASN][1000 genomes]
rs369251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs371492	0.83[ASN][1000 genomes]
rs373273	0.84[ASN][1000 genomes]
rs376303	0.83[ASN][1000 genomes]
rs380590	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs384673	0.82[EUR][1000 genomes]
rs390145	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs392317	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs392953	0.84[ASN][1000 genomes]
rs395755	0.82[ASN][1000 genomes]
rs404214	0.82[ASN][1000 genomes]
rs404226	0.83[ASN][1000 genomes]
rs407148	0.83[ASN][1000 genomes]
rs408263	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs419125	0.82[ASN][1000 genomes]
rs426140	0.99[ASN][1000 genomes]
rs447136	0.84[ASN][1000 genomes]
rs450450	0.83[ASN][1000 genomes]
rs473400	0.83[ASN][1000 genomes]
rs481800	0.81[ASN][1000 genomes]
rs530048	0.84[ASN][1000 genomes]
rs62148799	0.83[ASN][1000 genomes]
rs62150777	0.85[ASN][1000 genomes]
rs6706969	0.83[ASN][1000 genomes]
rs671010	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription 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	7 gene(s)	inside rSNPs	diseases
4	nsv1008190	chr2:40429442-40506772	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv524586	chr2:40447587-40497501	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873912	chr2:40468418-40492315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv873913	chr2:40469705-40485074	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40448000-40487400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40451400-40490000	Weak transcription	Dnd41	blood
3	chr2:40467800-40487400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:40468000-40476600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:40468800-40472600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:40469000-40475200	Enhancers	Fetal Heart	heart
7	chr2:40469600-40472600	Enhancers	Colon Smooth Muscle	Colon
8	chr2:40469600-40472800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:40469800-40474400	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:40470000-40473200	Enhancers	NHDF-Ad	bronchial
11	chr2:40470400-40472600	Enhancers	HSMM	muscle
12	chr2:40470400-40481200	Weak transcription	Brain Germinal Matrix	brain
13	chr2:40470800-40474800	Enhancers	Fetal Intestine Small	intestine
14	chr2:40471000-40472800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:40471200-40474600	Enhancers	Fetal Intestine Large	intestine
16	chr2:40471200-40474600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:40471400-40472600	Enhancers	Right Atrium	heart
18	chr2:40471400-40472600	Enhancers	Stomach Smooth Muscle	stomach
19	chr2:40471600-40472600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:40471600-40472800	Enhancers	Osteobl	bone
21	chr2:40471800-40472600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:40472000-40473000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:40472000-40473400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:40472000-40473400	Weak transcription	Fetal Stomach	stomach
25	chr2:40472000-40473600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:40472000-40473600	Weak transcription	Right Ventricle	heart
27	chr2:40472200-40473600	Weak transcription	Left Ventricle	heart
28	chr2:40472200-40474400	Weak transcription	Fetal Lung	lung
29	chr2:40472200-40478600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:40472400-40473600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:40472400-40475800	Weak transcription	Hela-S3	cervix
32	chr2:40472400-40478400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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