Variant report

Variant	rs264036
Chromosome Location	chr1:57671853-57671854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs155286	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs155295	0.83[CHB][hapmap]
rs155298	0.83[CHB][hapmap]
rs155305	0.83[CHB][hapmap]
rs197104	0.82[EUR][1000 genomes]
rs197603	0.83[CHB][hapmap];0.87[ASN][1000 genomes]
rs197604	0.83[CHB][hapmap];0.88[CHD][hapmap];0.86[ASN][1000 genomes]
rs197605	0.83[CHB][hapmap];0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs2551484	0.92[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap]
rs2764660	0.87[ASN][1000 genomes]
rs490419	0.83[CHB][hapmap];0.87[ASN][1000 genomes]
rs556131	0.82[CHB][hapmap];0.88[ASN][1000 genomes]
rs561248	0.96[CHD][hapmap];0.88[GIH][hapmap]
rs619732	0.84[ASN][1000 genomes]
rs653386	0.86[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs264036	C1orf177	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57664600-57678400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57669800-57672400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:57670200-57672400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
4	chr1:57670200-57672400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:57670200-57672400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr1:57670200-57672400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr1:57670200-57672400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:57670400-57672400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:57670400-57672400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:57670400-57672600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:57670600-57672400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:57670600-57672600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:57670800-57672400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:57670800-57672400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:57670800-57672600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:57671000-57673800	Weak transcription	Fetal Intestine Small	intestine
17	chr1:57671000-57674600	Weak transcription	Fetal Brain Female	brain
18	chr1:57671200-57672400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr1:57671200-57673600	Weak transcription	Fetal Intestine Large	intestine
20	chr1:57671600-57672200	Enhancers	Fetal Brain Male	brain
21	chr1:57671600-57672400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr1:57671600-57672400	Enhancers	Fetal Heart	heart
23	chr1:57671600-57672600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr1:57671800-57672200	Enhancers	Aorta	Aorta
25	chr1:57671800-57672200	Enhancers	K562	blood
26	chr1:57671800-57672600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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