Variant report

Variant	rs653386
Chromosome Location	chr1:57681839-57681840
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs155286	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs197597	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs197603	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs197604	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs197605	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs197607	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs264036	0.86[ASN][1000 genomes]
rs2764660	0.95[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs490419	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs556131	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs561248	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs619732	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57675600-57692600	Weak transcription	Fetal Intestine Large	intestine
2	chr1:57676000-57689800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:57678600-57684600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:57679200-57695000	Weak transcription	Fetal Brain Female	brain
5	chr1:57680600-57682000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:57680600-57682200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:57680800-57682000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:57680800-57682600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:57680800-57684000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:57680800-57684800	Enhancers	Fetal Heart	heart
11	chr1:57681200-57682200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:57681200-57682200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:57681400-57682000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:57681600-57682000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:57681600-57682000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:57681800-57684200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:57681800-57684400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:57681800-57690000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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