Variant report

Variant	rs4072296
Chromosome Location	chr5:74242002-74242003
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	chr5:74235381..74238008-chr5:74240552..74242250,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10045282	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11748722	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12515649	0.84[ASN][1000 genomes]
rs3934476	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4382144	0.86[EUR][1000 genomes]
rs4392602	0.83[EUR][1000 genomes]
rs4703642	0.82[EUR][1000 genomes]
rs6867482	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6889166	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7736223	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9293637	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518286	chr5:74169045-74243120	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830352	chr5:74189495-74337944	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74238800-74243800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:74238800-74243800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:74238800-74243800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:74239000-74242400	Weak transcription	Stomach Mucosa	stomach
5	chr5:74239000-74243800	Weak transcription	Spleen	Spleen
6	chr5:74239600-74243800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:74239600-74243800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:74241400-74244200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:74241400-74244600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:74241400-74245600	Enhancers	NHDF-Ad	bronchial
11	chr5:74241400-74246200	Enhancers	HepG2	liver
12	chr5:74241600-74243200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:74241600-74243800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:74241600-74244200	Enhancers	NHLF	lung
15	chr5:74241600-74244600	Enhancers	Duodenum Mucosa	Duodenum
16	chr5:74241600-74248000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:74241800-74242600	Enhancers	Small Intestine	intestine
18	chr5:74241800-74242800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:74241800-74243600	Enhancers	Fetal Intestine Large	intestine
20	chr5:74241800-74243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:74241800-74243800	Enhancers	Fetal Intestine Small	intestine
22	chr5:74241800-74244800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr5:74242000-74242600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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