Variant report

Variant	rs369731
Chromosome Location	chr1:216315149-216315150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:216312061..216313973-chr1:216314332..216316595,2	K562	blood:
2	chr1:216308823..216311948-chr1:216312152..216315770,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10864233	0.91[CEU][hapmap];0.93[CHB][hapmap];0.88[EUR][1000 genomes]
rs12562620	0.91[CEU][hapmap]
rs12742246	0.87[EUR][1000 genomes]
rs12751218	0.91[CEU][hapmap]
rs12755871	0.87[EUR][1000 genomes]
rs12759474	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs1359290	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs1359291	0.88[EUR][1000 genomes]
rs17026208	0.83[CHB][hapmap]
rs1811900	0.91[CEU][hapmap];0.83[CHB][hapmap];0.88[EUR][1000 genomes]
rs1811901	0.91[CEU][hapmap];0.83[CHB][hapmap];0.88[EUR][1000 genomes]
rs2147477	0.86[CEU][hapmap]
rs2199101	0.91[CEU][hapmap];0.83[CHB][hapmap];0.88[EUR][1000 genomes]
rs2199102	0.90[CEU][hapmap];0.83[CHB][hapmap];0.88[EUR][1000 genomes]
rs2669057	0.82[CHB][hapmap]
rs3767693	0.84[CHB][hapmap]
rs378340	0.82[CHB][hapmap]
rs407590	0.82[CHB][hapmap]
rs415508	0.82[CHB][hapmap]
rs439940	0.81[CHB][hapmap]
rs442384	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4971264	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs4971265	0.88[EUR][1000 genomes]
rs588516	0.82[CHB][hapmap]
rs600535	0.82[CHB][hapmap]
rs616523	0.84[CHB][hapmap]
rs61826891	0.81[EUR][1000 genomes]
rs62906	0.82[CHB][hapmap]
rs646094	0.82[CHB][hapmap]
rs659875	0.82[CHB][hapmap]
rs9659188	0.87[EUR][1000 genomes]
rs9660325	0.88[EUR][1000 genomes]
rs9660493	0.86[CEU][hapmap];0.84[CHB][hapmap];0.83[EUR][1000 genomes]
rs9727182	0.91[CEU][hapmap];0.83[CHB][hapmap];0.88[EUR][1000 genomes]
rs9728510	0.91[CEU][hapmap];0.83[CHB][hapmap];0.88[EUR][1000 genomes]

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	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv873176	chr1:216249570-216363137	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv999211	chr1:216268796-216329336	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1006028	chr1:216268796-216432545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216314000-216315200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:216314000-216315200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:216314000-216316800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:216314000-216317800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:216314400-216318000	Weak transcription	Fetal Lung	lung
6	chr1:216314800-216317400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:216315000-216315600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:216315000-216317200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:216315000-216317400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:216315000-216317400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:216315000-216317400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:216315000-216318000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:216315000-216318200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:216315000-216324000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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