Variant report

Variant	rs11851287
Chromosome Location	chr14:55370538-55370539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
GCH1	TF binding region
ENSG00000131981	Chromatin interaction
ENSG00000020577	Chromatin interaction
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11845477	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12100717	0.91[AFR][1000 genomes]
rs12100729	0.91[AFR][1000 genomes]
rs17128082	0.95[AFR][1000 genomes]
rs7157783	0.96[AFR][1000 genomes]
rs8003017	0.87[AFR][1000 genomes]
rs8005285	0.84[AFR][1000 genomes]
rs8010194	0.95[AFR][1000 genomes]
rs8013950	0.84[AFR][1000 genomes]
rs8019791	0.90[AFR][1000 genomes];1.00[AMR][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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3358123	chr14:55359251-55378030	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
4	esv3345259	chr14:55368427-55370975	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55370000-55370600	Flanking Active TSS	HepG2	liver
2	chr14:55370000-55373600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:55370200-55370600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr14:55370200-55372800	Weak transcription	GM12878-XiMat	blood
5	chr14:55370200-55374600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:55370200-55374800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:55370200-55376800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:55370400-55370600	Enhancers	Fetal Intestine Small	intestine
9	chr14:55370400-55370600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr14:55370400-55371600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr14:55370400-55371600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr14:55370400-55371600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:55370400-55374400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:55370400-55374600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:55370400-55374600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:55370400-55374600	Weak transcription	Dnd41	blood
17	chr14:55370400-55374800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:55370400-55374800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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

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