Variant report

Variant	rs6693325
Chromosome Location	chr1:226220558-226220559
allele	C/G
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	chr1:226219330..226221249-chr1:226229665..226232584,2	K562	blood:
3	chr1:226219722..226222204-chr1:226248107..226250349,2	K562	blood:
4	chr1:226220291..226223150-chr1:226268993..226271694,2	MCF-7	breast:
5	chr1:226220237..226222759-chr1:226249970..226252556,2	K562	blood:
6	chr1:226220194..226222275-chr1:226233955..226236306,2	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
ENSG00000225518	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000163041	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];0.99[ASN][1000 genomes]
rs10915923	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10915924	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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];0.92[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]
rs4653705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4653706	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653707	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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];0.98[ASN][1000 genomes]
rs6682659	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6701318	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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
rs6693325	H3F3A	cis	Artery Tibial	GTEx
rs6693325	H3F3A	cis	Nerve Tibial	GTEx
rs6693325	H3F3A	cis	Esophagus Mucosa	GTEx
rs6693325	H3F3A	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226215000-226221400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:226216400-226222200	Weak transcription	Brain Substantia Nigra	brain
3	chr1:226216600-226222000	Weak transcription	Placenta	Placenta
4	chr1:226217600-226221400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:226217600-226222200	Weak transcription	Liver	Liver
6	chr1:226217800-226221400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:226217800-226234400	Weak transcription	Colonic Mucosa	Colon
8	chr1:226218200-226221400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:226218200-226221600	Weak transcription	Fetal Intestine Large	intestine
10	chr1:226218200-226221600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:226218200-226221600	Weak transcription	Stomach Mucosa	stomach
12	chr1:226218800-226221200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:226219400-226222200	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:226219600-226220800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr1:226219600-226221200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:226219600-226221600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:226220200-226220600	Enhancers	Duodenum Mucosa	Duodenum
18	chr1:226220200-226220800	Enhancers	K562	blood
19	chr1:226220200-226221200	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:226220200-226221400	Enhancers	Primary B cells from cord blood	blood
21	chr1:226220200-226223800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:226220200-226224000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr1:226220400-226220600	Enhancers	Brain Anterior Caudate	brain
24	chr1:226220400-226222000	Weak transcription	HSMMtube	muscle
25	chr1:226220400-226224200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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