Variant report

Variant	rs12096388
Chromosome Location	chr1:226208241-226208242
allele	C/T
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

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226204301..226206286-chr1:226208154..226209970,2	K562	blood:
2	chr1:226184960..226187333-chr1:226206537..226209915,3	K562	blood:
3	chr1:226204895..226209098-chr1:226249962..226252500,5	K562	blood:
4	chr1:226207957..226211790-chr1:226247230..226252301,7	MCF-7	breast:
5	chr1:226206827..226208348-chr1:226210212..226212245,2	K562	blood:
6	chr1:226201529..226203979-chr1:226206128..226208883,3	K562	blood:
7	chr1:226186179..226191581-chr1:226205120..226212715,10	K562	blood:
8	chr1:226207205..226209894-chr1:226309049..226312004,2	K562	blood:
9	chr1:226205369..226210756-chr1:226213268..226218237,7	K562	blood:

No data

No data

No data

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10799335	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	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
rs12096388	H3F3A	cis	Esophagus Mucosa	GTEx
rs12096388	H3F3A	cis	Artery Aorta	GTEx
rs12096388	H3F3A	cis	Muscle Skeletal	GTEx
rs12096388	H3F3A	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226204600-226210600	Weak transcription	Colonic Mucosa	Colon
2	chr1:226205000-226208400	Weak transcription	K562	blood
3	chr1:226205000-226209000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:226205200-226208400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:226205600-226209000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:226205600-226215000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:226206000-226209000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:226207400-226209000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:226207800-226215400	Weak transcription	Rectal Mucosa Donor 29	rectum

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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