Variant report

Variant	rs1477248
Chromosome Location	chr2:50230159-50230160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12470829	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12478797	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12713083	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13031235	0.86[CEU][hapmap]
rs1363036	0.93[CEU][hapmap];0.83[CHB][hapmap]
rs1363052	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1369295	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1369297	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1421567	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs1421569	0.92[CHB][hapmap]
rs1421577	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421598	0.86[CEU][hapmap];0.92[CHB][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1469002	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1469003	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1477249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541642	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1592728	0.91[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1865490	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895132	0.82[CHD][hapmap]
rs2193865	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2351149	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2859977	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4583505	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4971632	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4971635	0.85[CEU][hapmap]
rs6545137	1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs6545144	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6706484	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712956	0.85[CEU][hapmap];0.83[CHB][hapmap];0.92[EUR][1000 genomes]
rs6714990	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6761463	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7562931	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7596020	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs930295	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9636391	0.93[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs980794	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv874031	chr2:50202953-50243386	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	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	chr2:50223400-50233000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:50227400-50232600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:50229000-50230200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr2:50229200-50231800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:50229200-50234200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:50229400-50231400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:50229600-50231200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:50229800-50230800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:50229800-50230800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:50229800-50230800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:50229800-50231000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:50230000-50231000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:50230000-50231200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:50230000-50232800	Weak transcription	H9 Cell Line	embryonic stem cell

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