Variant report

Variant	rs1348828
Chromosome Location	chr2:77245603-77245604
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10520169	0.83[CHB][hapmap]
rs12713886	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12713890	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12713891	0.93[EUR][1000 genomes]
rs12992834	0.87[JPT][hapmap]
rs13013784	0.86[JPT][hapmap]
rs13021476	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs13033902	0.95[CEU][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13034088	0.95[CEU][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13388552	0.90[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13389562	0.82[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs13397044	0.84[CEU][hapmap]
rs13406560	0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1348829	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374392	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs1374393	0.91[CHB][hapmap]
rs1374394	0.95[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs1446689	0.84[CEU][hapmap]
rs1446694	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1446700	0.91[JPT][hapmap]
rs1446702	0.87[JPT][hapmap]
rs1446706	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1446713	0.83[EUR][1000 genomes]
rs1446714	0.83[EUR][1000 genomes]
rs1446717	0.90[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1446718	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs1446720	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs1542187	1.00[CEU][hapmap]
rs17013302	0.83[CHB][hapmap]
rs17013306	0.83[CHB][hapmap]
rs17013420	0.85[CHB][hapmap]
rs17013458	0.91[CHB][hapmap]
rs17013599	0.87[JPT][hapmap]
rs17013615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17040496	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs17040500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17089	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1838879	0.88[EUR][1000 genomes]
rs1921625	0.87[CHB][hapmap]
rs1950122	0.95[CHB][hapmap]
rs2044485	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs34287182	0.85[EUR][1000 genomes]
rs34577944	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35458070	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4510248	0.84[CEU][hapmap]
rs4853290	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58936967	0.88[EUR][1000 genomes]
rs6547106	0.84[EUR][1000 genomes]
rs6547107	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs6547108	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs6547109	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs6547111	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs6547113	0.95[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6706194	0.93[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6716081	0.82[CHB][hapmap]
rs6724799	0.95[EUR][1000 genomes]
rs6737296	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs6741095	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6750979	0.83[EUR][1000 genomes]
rs6758707	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs72823154	0.88[EUR][1000 genomes]
rs7556871	0.83[EUR][1000 genomes]
rs7561189	0.90[CEU][hapmap]
rs7569919	0.91[EUR][1000 genomes]
rs7569994	0.89[EUR][1000 genomes]
rs7591186	0.87[JPT][hapmap]
rs7595678	0.89[CEU][hapmap];0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7604936	0.87[JPT][hapmap]
rs914389	0.87[CHB][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	nsv834266	chr2:77120236-77287504	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv519950	chr2:77213103-77256291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv997284	chr2:77233426-77303198	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1007408	chr2:77235194-77255152	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77243600-77245800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:77243600-77246000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:77243600-77246000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:77243600-77246800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:77244000-77246000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:77244200-77246000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:77244200-77246000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:77244600-77245800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr2:77244800-77248000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:77244800-77249600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:77244800-77249600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:77245400-77245800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:77245400-77245800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:77245400-77246600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:77245600-77245800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr2:77245600-77245800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:77245600-77245800	Enhancers	Fetal Lung	lung

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