Variant report

Variant	rs218275
Chromosome Location	chr4:55416884-55416885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:55414683..55417031-chr4:55435855..55438251,2	K562	blood:
2	chr4:55409948..55411844-chr4:55415689..55417190,2	K562	blood:
3	chr4:55415422..55417506-chr4:55420845..55423191,2	K562	blood:
4	chr4:55415531..55418177-chr4:55435603..55437355,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10017829	1.00[EUR][1000 genomes]
rs11936787	1.00[EUR][1000 genomes]
rs17084432	1.00[EUR][1000 genomes]
rs17084439	1.00[EUR][1000 genomes]
rs17084451	1.00[EUR][1000 genomes]
rs1876481	1.00[EUR][1000 genomes]
rs218274	1.00[EUR][1000 genomes]
rs218276	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218277	1.00[EUR][1000 genomes]
rs218279	1.00[AMR][1000 genomes]
rs28415087	1.00[EUR][1000 genomes]
rs28513544	1.00[EUR][1000 genomes]
rs28548789	1.00[EUR][1000 genomes]
rs28753670	1.00[EUR][1000 genomes]
rs35111648	1.00[EUR][1000 genomes]
rs6815523	1.00[EUR][1000 genomes]
rs6841662	1.00[EUR][1000 genomes]
rs73155490	1.00[EUR][1000 genomes]
rs73157485	1.00[EUR][1000 genomes]
rs73159412	1.00[EUR][1000 genomes]
rs7675121	1.00[EUR][1000 genomes]
rs973924	1.00[EUR][1000 genomes]
rs9995779	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55406200-55434200	Weak transcription	Right Atrium	heart
2	chr4:55406400-55420600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:55409000-55420600	Weak transcription	Ovary	ovary
4	chr4:55409800-55419000	Weak transcription	NHLF	lung
5	chr4:55411800-55417600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:55414000-55419600	Weak transcription	Lung	lung
7	chr4:55414000-55422800	Weak transcription	Esophagus	oesophagus
8	chr4:55414200-55419400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:55414600-55419600	Weak transcription	NHEK	skin
10	chr4:55414600-55420600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:55414600-55420600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:55414800-55420600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:55415000-55422600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:55415400-55417000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:55415400-55417000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:55415600-55422200	Weak transcription	Spleen	Spleen
17	chr4:55415800-55417000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:55416000-55417000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr4:55416000-55417000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:55416000-55417200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:55416200-55417000	Enhancers	NHDF-Ad	bronchial
22	chr4:55416400-55417000	Enhancers	Stomach Mucosa	stomach
23	chr4:55416400-55417600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:55416600-55417000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:55416600-55417000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:55416600-55417000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:55416600-55417000	Enhancers	Placenta	Placenta
28	chr4:55416600-55417200	Enhancers	Hela-S3	cervix
29	chr4:55416800-55419000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:55416800-55419000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:55416800-55419600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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