Variant report

Variant	rs61836914
Chromosome Location	chr1:226498784-226498785
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226496316..226500064-chr1:226594874..226597502,3	K562	blood:
2	chr1:226495222..226499325-chr1:226503022..226506400,5	K562	blood:
3	chr1:226495915..226498554-chr1:226498773..226500804,2	K562	blood:
4	chr1:226495420..226500064-chr1:226594005..226597004,6	K562	blood:
5	chr1:226482037..226484983-chr1:226498404..226500947,2	K562	blood:
6	chr1:226496568..226499183-chr1:226502857..226505665,4	MCF-7	breast:
7	chr1:226495430..226499568-chr1:226501026..226504302,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183814	Chromatin interaction
ENSG00000239094	Chromatin interaction
ENSG00000236994	Chromatin interaction
ENSG00000143799	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2126577	0.81[ASN][1000 genomes]
rs2254723	0.81[ASN][1000 genomes]
rs2666429	0.83[ASN][1000 genomes]
rs35632568	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4570387	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs61836914	H3F3A	cis	Nerve Tibial	GTEx
rs61836914	H3F3A	cis	Skin Sun Exposed Lower leg	GTEx
rs61836914	H3F3A	cis	Esophagus Mucosa	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226497600-226498800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:226497600-226498800	Enhancers	Esophagus	oesophagus
3	chr1:226497600-226499200	Enhancers	Stomach Mucosa	stomach
4	chr1:226497600-226499600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:226497800-226499200	Enhancers	Fetal Intestine Small	intestine
6	chr1:226498000-226498800	Enhancers	HMEC	breast
7	chr1:226498000-226499000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:226498000-226499000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:226498000-226499000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:226498000-226499000	Enhancers	A549	lung
11	chr1:226498200-226498800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:226498200-226498800	Enhancers	Hela-S3	cervix
13	chr1:226498200-226499200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:226498200-226499200	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:226498400-226498800	Enhancers	NHEK	skin
16	chr1:226498400-226499200	Enhancers	Fetal Heart	heart
17	chr1:226498400-226499200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr1:226498400-226499200	Enhancers	K562	blood
19	chr1:226498600-226498800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:226498600-226499000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:226498600-226503800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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