Variant report

Variant	rs6731397
Chromosome Location	chr2:50389105-50389106
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10490233	0.82[JPT][hapmap]
rs10490240	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11125289	0.88[AMR][1000 genomes]
rs11125290	0.88[CEU][hapmap];0.87[AMR][1000 genomes]
rs11125291	0.88[CEU][hapmap];0.83[AMR][1000 genomes]
rs11125292	0.85[CEU][hapmap];0.83[AMR][1000 genomes]
rs11125294	0.88[CEU][hapmap];0.83[AMR][1000 genomes]
rs11125295	0.87[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs11125296	0.91[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11888330	0.88[CEU][hapmap]
rs11896556	0.81[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12466807	0.88[CEU][hapmap]
rs12468151	0.82[AMR][1000 genomes]
rs12468252	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs12468282	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12468342	0.83[AMR][1000 genomes]
rs12468396	0.82[AMR][1000 genomes]
rs12468477	0.87[CEU][hapmap]
rs12470518	0.95[CHB][hapmap]
rs12472712	0.81[CHB][hapmap]
rs12472743	0.80[CHB][hapmap]
rs12475100	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap]
rs12476530	0.95[CHB][hapmap]
rs12477934	0.81[CHB][hapmap]
rs12478603	0.80[CHB][hapmap]
rs12613266	0.81[AMR][1000 genomes]
rs12613363	1.00[CHB][hapmap]
rs12622844	0.87[CEU][hapmap];0.81[AMR][1000 genomes]
rs1377238	0.87[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs1421573	0.82[CEU][hapmap];0.95[CHB][hapmap]
rs1452769	0.86[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1452770	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1452771	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1452773	0.95[CHB][hapmap]
rs1563019	0.87[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1563020	1.00[CEU][hapmap]
rs1563028	0.87[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap]
rs1584763	0.87[CEU][hapmap];0.86[AMR][1000 genomes]
rs17039764	1.00[CHB][hapmap]
rs17039905	0.81[AMR][1000 genomes]
rs17039932	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17039935	0.81[ASN][1000 genomes]
rs17039940	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17039947	0.87[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes]
rs17039976	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs17039979	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs17039985	0.88[CEU][hapmap];0.86[AMR][1000 genomes]
rs17040013	0.88[CEU][hapmap]
rs17040034	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs17040064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040090	0.87[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17040117	0.87[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap]
rs17040123	0.87[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs17040138	0.88[CEU][hapmap];0.81[CHB][hapmap]
rs17040141	0.88[CEU][hapmap];0.81[CHB][hapmap]
rs17040147	0.87[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs17040160	0.87[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs17040169	0.88[CEU][hapmap];0.81[CHB][hapmap]
rs17040210	0.82[JPT][hapmap]
rs17040235	0.82[JPT][hapmap]
rs2218979	1.00[CHB][hapmap]
rs2688889	0.84[YRI][hapmap]
rs4971552	0.82[CHB][hapmap]
rs4971646	0.91[CHB][hapmap]
rs4971649	0.86[CEU][hapmap];0.81[AMR][1000 genomes]
rs4971650	0.88[CEU][hapmap]
rs4971652	0.87[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4971653	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4971654	0.84[ASN][1000 genomes]
rs4971655	0.87[CEU][hapmap];0.86[CHB][hapmap]
rs4971656	0.88[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs4971658	0.88[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs4971659	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs60500567	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61035060	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6545149	1.00[CHB][hapmap]
rs6545155	0.82[CHB][hapmap]
rs6712102	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6712119	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs6712423	0.81[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap]
rs6723207	0.84[YRI][hapmap]
rs6751528	0.83[YRI][hapmap]
rs72878157	0.81[AMR][1000 genomes]
rs72881242	0.89[AMR][1000 genomes]
rs7599349	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs7607863	0.88[CEU][hapmap];0.87[AMR][1000 genomes]
rs970896	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50388400-50389400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:50388600-50389400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:50388600-50389400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:50388800-50389400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:50389000-50389400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:50389000-50389600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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