Variant report

Variant	rs4653705
Chromosome Location	chr1:226222818-226222819
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr1:226190304..226192131-chr1:226220799..226223499,3	K562	blood:
7	chr1:226215678..226220022-chr1:226220215..226226731,8	K562	blood:
8	chr1:226219248..226223033-chr1:226239868..226243673,3	MCF-7	breast:

No data

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

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10157179	0.95[EUR][1000 genomes]
rs10753411	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10799333	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10799334	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10915920	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10915921	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915923	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10915924	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10915927	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12128917	0.91[EUR][1000 genomes]
rs1877158	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2001307	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4477241	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4604663	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4653438	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4653439	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4653703	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4653704	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4653706	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4653707	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6426096	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6426098	0.94[EUR][1000 genomes]
rs6426099	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6675606	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6682659	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6693325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6701318	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73100558	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7550220	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7553984	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9701639	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4653705	H3F3A	cis	Nerve Tibial	GTEx
rs4653705	H3F3A	cis	Artery Tibial	GTEx
rs4653705	H3F3A	cis	Skin Sun Exposed Lower leg	GTEx
rs4653705	H3F3A	cis	Esophagus Mucosa	GTEx

Chromatin state (count:34 , 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	chr1:226221400-226223000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:226221400-226223600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:226221400-226223600	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr1:226221400-226223800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:226221400-226223800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:226221600-226223000	Enhancers	NHDF-Ad	bronchial
12	chr1:226221600-226223800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr1:226221600-226224600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:226221800-226223000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:226221800-226223000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:226221800-226229600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:226222000-226223000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:226222000-226223400	Enhancers	Adipose Nuclei	Adipose
19	chr1:226222000-226223800	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:226222000-226224400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:226222200-226223000	Enhancers	Fetal Muscle Leg	muscle
22	chr1:226222200-226223000	Enhancers	HUVEC	blood vessel
23	chr1:226222200-226223000	Enhancers	NHEK	skin
24	chr1:226222400-226242200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:226222600-226223400	Weak transcription	K562	blood
26	chr1:226222600-226223600	Weak transcription	Fetal Brain Female	brain
27	chr1:226222600-226224000	Enhancers	Primary B cells from cord blood	blood
28	chr1:226222600-226231000	Weak transcription	Brain Substantia Nigra	brain
29	chr1:226222600-226241400	Weak transcription	Liver	Liver
30	chr1:226222600-226242600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:226222600-226248600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:226222800-226223000	Enhancers	Placenta	Placenta
33	chr1:226222800-226223400	Weak transcription	Stomach Mucosa	stomach
34	chr1:226222800-226223800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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