Variant report

Variant	rs2573028
Chromosome Location	chr4:74900205-74900206
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74806189..74808887-chr4:74899171..74901501,2	K562	blood:
2	chr4:74898124..74900976-chr4:74962352..74965035,2	K562	blood:
3	chr4:74809732..74811684-chr4:74898068..74900881,2	K562	blood:

Variant related genes	Relation type
ENSG00000250339	Chromatin interaction
ENSG00000081041	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1246766	1.00[AMR][1000 genomes]
rs1261907	1.00[AMR][1000 genomes]
rs164755	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs164756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16850399	1.00[AMR][1000 genomes]
rs16850536	1.00[AMR][1000 genomes]
rs191613	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352039	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352040	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352049	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472689	1.00[AMR][1000 genomes]
rs486154	1.00[AMR][1000 genomes]
rs488994	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs499451	1.00[AMR][1000 genomes]
rs505197	1.00[AMR][1000 genomes]
rs526993	1.00[AMR][1000 genomes]
rs539431	1.00[AMR][1000 genomes]
rs543325	1.00[AMR][1000 genomes]
rs550282	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551055	1.00[AMR][1000 genomes]
rs570922	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571068	1.00[AMR][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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr4:74890200-74903200	Weak transcription	Stomach Mucosa	stomach
2	chr4:74896600-74902200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:74896600-74902600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:74896800-74902200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:74896800-74902800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:74897200-74901400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:74897600-74901400	Enhancers	Osteobl	bone
8	chr4:74897800-74902800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:74897800-74902800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:74898000-74903000	Weak transcription	Gastric	stomach
11	chr4:74898200-74902800	Weak transcription	NHLF	lung
12	chr4:74898800-74903000	Weak transcription	Colonic Mucosa	Colon
13	chr4:74899000-74902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:74899000-74902200	Weak transcription	K562	blood
15	chr4:74899000-74902600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:74899000-74903000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:74899000-74903000	Weak transcription	HUVEC	blood vessel
18	chr4:74899600-74902800	Weak transcription	Hela-S3	cervix
19	chr4:74900000-74902200	Weak transcription	A549	lung
20	chr4:74900000-74902800	Weak transcription	NHDF-Ad	bronchial
21	chr4:74900000-74903200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:74900000-74903200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:74900000-74903600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:74900200-74902200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:74900200-74902400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:74900200-74902400	Weak transcription	HMEC	breast
27	chr4:74900200-74902600	Weak transcription	HSMM	muscle
28	chr4:74900200-74902600	Weak transcription	NHEK	skin
29	chr4:74900200-74902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:74900200-74902800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:74900200-74903800	Weak transcription	Esophagus	oesophagus

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