Variant report

Variant	rs17440213
Chromosome Location	chr5:118239756-118239757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118235181..118238389-chr5:118238793..118240582,3	K562	blood:
2	chr5:118235222..118238389-chr5:118238793..118241310,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10519564	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs11959589	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12109156	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12109252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1448479	1.00[JPT][hapmap]
rs1510971	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs1567520	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17132677	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap]
rs17144552	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17144714	1.00[JPT][hapmap]
rs17144824	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.81[TSI][hapmap]
rs17144836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap]
rs17144872	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17144877	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17144883	1.00[JPT][hapmap]
rs17144885	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17144893	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17381247	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2029036	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2084460	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2115301	1.00[JPT][hapmap]
rs2217310	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2376854	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2377127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap]
rs28640997	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3813297	1.00[JPT][hapmap]
rs3813298	1.00[JPT][hapmap]
rs4392657	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4634381	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs4895184	1.00[JPT][hapmap]
rs4895353	1.00[JPT][hapmap]
rs4895354	1.00[JPT][hapmap]
rs55874944	0.87[ASN][1000 genomes]
rs56034428	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56078901	0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs57186800	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57503789	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58737380	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60688439	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6860946	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs6862297	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6863802	1.00[CHB][hapmap]
rs6870923	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6874399	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap]
rs6880144	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs6892437	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs6896086	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73239065	0.87[ASN][1000 genomes]
rs73789435	0.88[EUR][1000 genomes]
rs73790355	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73792413	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73792414	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7706037	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7710339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7722850	0.95[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7724403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7724753	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7734815	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7737716	0.89[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv882773	chr5:118175640-118241854	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv599563	chr5:118191798-118241854	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118216600-118244800	Weak transcription	Primary T cells from cord blood	blood
2	chr5:118218800-118240600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:118225000-118247000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:118225400-118300400	Weak transcription	Primary B cells from cord blood	blood
5	chr5:118227400-118270600	Weak transcription	Ovary	ovary
6	chr5:118233400-118259000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:118233800-118289200	Weak transcription	Psoas Muscle	Psoas
8	chr5:118239400-118242400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:118239400-118257000	Weak transcription	Fetal Lung	lung

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