Variant report

Variant	rs28712862
Chromosome Location	chr4:111011992-111011993
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	chr4:111010061..111013884-chr4:111117601..111121321,3	K562	blood:

Variant related genes	Relation type
ENSG00000170522	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10005776	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10024683	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1003908	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11731407	0.93[EUR][1000 genomes]
rs2005701	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2040710	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2347600	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2347601	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2347602	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28694077	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28706838	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28784911	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34392886	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4698807	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6841778	0.83[EUR][1000 genomes]
rs6858635	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6858695	0.91[AMR][1000 genomes];0.85[EUR][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	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110993200-111015400	Weak transcription	Psoas Muscle	Psoas
2	chr4:110995000-111018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:111004600-111026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:111004600-111027800	Weak transcription	Esophagus	oesophagus
5	chr4:111006000-111013200	Enhancers	Dnd41	blood
6	chr4:111006000-111014000	Enhancers	HMEC	breast
7	chr4:111006200-111012200	Enhancers	NHEK	skin
8	chr4:111006200-111012400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:111006200-111012400	Enhancers	Osteobl	bone
10	chr4:111006200-111012600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:111006400-111013000	Weak transcription	Fetal Kidney	kidney
12	chr4:111006600-111012200	Enhancers	NHDF-Ad	bronchial
13	chr4:111006600-111026000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:111006800-111012600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:111006800-111014200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:111006800-111025800	Weak transcription	Liver	Liver
17	chr4:111008400-111012200	Weak transcription	Stomach Mucosa	stomach
18	chr4:111008400-111026000	Weak transcription	Fetal Brain Female	brain
19	chr4:111009200-111012400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:111009400-111012200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:111009400-111013600	Weak transcription	Brain Anterior Caudate	brain
22	chr4:111009600-111012000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:111009600-111012200	Weak transcription	Fetal Intestine Small	intestine
24	chr4:111009600-111012400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:111009600-111013200	Weak transcription	Brain Substantia Nigra	brain
26	chr4:111009800-111012600	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:111009800-111016600	Weak transcription	Fetal Heart	heart
28	chr4:111010000-111012200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:111010000-111012400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:111010000-111027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:111010000-111028000	Weak transcription	HepG2	liver
32	chr4:111010200-111012200	Weak transcription	Brain Germinal Matrix	brain
33	chr4:111010200-111012200	Weak transcription	A549	lung
34	chr4:111010200-111017600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:111010400-111024800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:111010600-111012400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:111010800-111012400	Weak transcription	Brain Angular Gyrus	brain
38	chr4:111010800-111014800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:111010800-111023400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:111011000-111012200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:111011000-111012200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:111011000-111012200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:111011000-111012200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:111011000-111012200	Weak transcription	HSMMtube	muscle
45	chr4:111011000-111012400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:111011000-111026000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:111011000-111040200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:111011200-111012200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:111011200-111012400	Enhancers	NH-A	brain
50	chr4:111011200-111012400	Enhancers	NHLF	lung

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