Variant report

Variant	rs3768199
Chromosome Location	chr1:57518594-57518595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs3820575	1.00[JPT][hapmap]
rs471704	1.00[JPT][hapmap]
rs479075	1.00[JPT][hapmap]
rs479780	1.00[JPT][hapmap]
rs489049	1.00[JPT][hapmap]
rs491585	1.00[JPT][hapmap]
rs499755	1.00[JPT][hapmap]
rs500614	1.00[JPT][hapmap]
rs506063	1.00[JPT][hapmap]
rs507709	1.00[JPT][hapmap]
rs514594	1.00[JPT][hapmap]
rs522532	1.00[JPT][hapmap]
rs552417	1.00[JPT][hapmap]
rs556329	1.00[JPT][hapmap]
rs560176	1.00[JPT][hapmap]
rs561503	1.00[JPT][hapmap]
rs564575	1.00[JPT][hapmap]
rs572427	1.00[JPT][hapmap]
rs573395	1.00[JPT][hapmap]
rs692939	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3392202	chr1:57518414-57520712	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57496000-57533800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:57500800-57526000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:57501200-57526200	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57512600-57525400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:57512800-57532400	Weak transcription	Fetal Brain Female	brain
6	chr1:57514600-57523800	Weak transcription	Left Ventricle	heart
7	chr1:57518200-57529000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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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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