Variant report

Variant	rs6724799
Chromosome Location	chr2:77243013-77243014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10172719	0.92[YRI][hapmap]
rs10190179	0.81[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs10190198	0.81[JPT][hapmap];1.00[YRI][hapmap]
rs10190443	0.87[AFR][1000 genomes]
rs10199256	0.92[YRI][hapmap]
rs12713886	0.88[EUR][1000 genomes]
rs12713890	0.83[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12713891	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13021476	0.90[EUR][1000 genomes]
rs13033902	0.84[EUR][1000 genomes]
rs13034088	0.87[EUR][1000 genomes]
rs13388552	0.90[EUR][1000 genomes]
rs13406560	0.94[EUR][1000 genomes]
rs1345136	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes]
rs1348824	0.90[JPT][hapmap];0.91[YRI][hapmap]
rs1348826	0.80[JPT][hapmap];0.92[YRI][hapmap]
rs1348827	0.84[JPT][hapmap];0.91[YRI][hapmap]
rs1348828	0.95[EUR][1000 genomes]
rs1348829	0.95[EUR][1000 genomes]
rs1348831	0.82[CHB][hapmap];0.92[YRI][hapmap]
rs1374388	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs1374392	0.89[EUR][1000 genomes]
rs1446694	0.87[EUR][1000 genomes]
rs1446695	0.92[YRI][hapmap]
rs1446698	0.85[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs1446701	0.85[JPT][hapmap];0.92[YRI][hapmap]
rs1446703	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1446705	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs1446706	0.92[EUR][1000 genomes]
rs1446707	0.82[CHB][hapmap];0.92[YRI][hapmap]
rs1446713	0.88[EUR][1000 genomes]
rs1446714	0.88[EUR][1000 genomes]
rs1446717	0.87[EUR][1000 genomes]
rs1446718	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1446720	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1542186	0.81[JPT][hapmap]
rs1542187	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs1584234	0.80[JPT][hapmap];0.92[YRI][hapmap]
rs17013615	0.94[EUR][1000 genomes]
rs17040496	0.82[CHB][hapmap];0.90[EUR][1000 genomes]
rs17040500	0.95[EUR][1000 genomes]
rs17089	0.94[EUR][1000 genomes]
rs1838879	0.90[EUR][1000 genomes]
rs2028913	0.84[JPT][hapmap]
rs2044485	0.90[EUR][1000 genomes]
rs34287182	0.82[EUR][1000 genomes]
rs34577944	0.95[EUR][1000 genomes]
rs35458070	0.95[EUR][1000 genomes]
rs4853290	0.88[EUR][1000 genomes]
rs58936967	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6547106	0.86[EUR][1000 genomes]
rs6547107	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6547108	0.86[EUR][1000 genomes]
rs6547109	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6547111	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6547113	0.91[EUR][1000 genomes]
rs6547114	0.82[CHB][hapmap];0.92[YRI][hapmap]
rs6547115	0.84[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap]
rs6706194	0.91[EUR][1000 genomes]
rs6732462	0.84[JPT][hapmap]
rs6737296	0.90[EUR][1000 genomes]
rs6741095	0.95[EUR][1000 genomes]
rs6750979	0.88[EUR][1000 genomes]
rs6758707	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs727000	0.89[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes]
rs72823154	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7556871	0.88[EUR][1000 genomes]
rs7563917	0.84[YRI][hapmap]
rs7569919	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7569994	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7573982	0.81[JPT][hapmap];0.90[YRI][hapmap]
rs7595678	0.87[EUR][1000 genomes]
rs7597923	0.89[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs765572	0.81[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	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77232000-77245600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:77237000-77243800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:77237000-77245400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:77237600-77243600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:77237800-77243600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:77238000-77245400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:77238200-77244000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:77238200-77244200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:77239200-77244200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:77240400-77243600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:77240600-77243400	Weak transcription	Fetal Lung	lung
12	chr2:77240600-77243600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:77240600-77244200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:77243000-77243600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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