Variant report

Variant	rs4653703
Chromosome Location	chr1:226222636-226222637
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226188590..226191989-chr1:226218669..226223499,6	K562	blood:
2	chr1:226220872..226223781-chr1:226226521..226228169,2	K562	blood:
3	chr1:226221612..226223515-chr1:226226689..226228264,2	MCF-7	breast:
4	chr1:226221593..226225181-chr1:226248684..226250837,3	MCF-7	breast:
5	chr1:226220291..226223150-chr1:226268993..226271694,2	MCF-7	breast:
6	chr1:226220237..226222759-chr1:226249970..226252556,2	K562	blood:
7	chr1:226190304..226192131-chr1:226220799..226223499,3	K562	blood:
8	chr1:226215678..226220022-chr1:226220215..226226731,8	K562	blood:
9	chr1:226219248..226223033-chr1:226239868..226243673,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225518	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10157179	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753411	0.94[EUR][1000 genomes]
rs10799333	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10799334	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915920	0.84[EUR][1000 genomes]
rs10915921	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10915923	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10915924	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10915927	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11576089	0.85[ASN][1000 genomes]
rs12128917	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1877158	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2001307	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4477241	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4604663	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4653438	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653705	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4653706	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4653707	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6426096	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426098	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6426099	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6675606	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6682659	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6693325	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6701318	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73100558	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7550220	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7553984	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9701639	0.87[AMR][1000 genomes];0.94[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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4653703	H3F3A	cis	Nerve Tibial	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226217800-226234400	Weak transcription	Colonic Mucosa	Colon
2	chr1:226220200-226223800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:226220200-226224000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:226220400-226224200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:226221200-226223000	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:226221400-226222800	Enhancers	Fetal Lung	lung
7	chr1:226221400-226223000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:226221400-226223600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:226221400-226223600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr1:226221400-226223800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:226221400-226223800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:226221600-226222800	Enhancers	Fetal Intestine Large	intestine
13	chr1:226221600-226222800	Enhancers	Stomach Mucosa	stomach
14	chr1:226221600-226223000	Enhancers	NHDF-Ad	bronchial
15	chr1:226221600-226223800	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr1:226221600-226224600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:226221800-226222800	Enhancers	Osteobl	bone
18	chr1:226221800-226223000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:226221800-226223000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:226221800-226229600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:226222000-226222800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:226222000-226222800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:226222000-226222800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:226222000-226222800	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:226222000-226222800	Enhancers	HSMM	muscle
26	chr1:226222000-226223000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:226222000-226223400	Enhancers	Adipose Nuclei	Adipose
28	chr1:226222000-226223800	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:226222000-226224400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:226222200-226222800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:226222200-226222800	Weak transcription	Placenta	Placenta
32	chr1:226222200-226222800	Enhancers	HMEC	breast
33	chr1:226222200-226222800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:226222200-226223000	Enhancers	Fetal Muscle Leg	muscle
35	chr1:226222200-226223000	Enhancers	HUVEC	blood vessel
36	chr1:226222200-226223000	Enhancers	NHEK	skin
37	chr1:226222400-226242200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:226222600-226223400	Weak transcription	K562	blood
39	chr1:226222600-226223600	Weak transcription	Fetal Brain Female	brain
40	chr1:226222600-226224000	Enhancers	Primary B cells from cord blood	blood
41	chr1:226222600-226231000	Weak transcription	Brain Substantia Nigra	brain
42	chr1:226222600-226241400	Weak transcription	Liver	Liver
43	chr1:226222600-226242600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:226222600-226248600	Weak transcription	Brain Inferior Temporal Lobe	brain

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