Variant report

Variant	rs2217310
Chromosome Location	chr5:118242086-118242087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10519564	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11949851	0.86[AFR][1000 genomes]
rs11954152	0.84[ASN][1000 genomes]
rs11959589	1.00[CHB][hapmap]
rs12109156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12109252	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12187606	1.00[JPT][hapmap]
rs1510971	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs17132677	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17144552	1.00[CHB][hapmap]
rs17144715	1.00[JPT][hapmap]
rs17144716	1.00[JPT][hapmap]
rs17144806	1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes]
rs17144824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17144836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144872	1.00[CHB][hapmap]
rs17144877	1.00[CHB][hapmap]
rs17144883	1.00[CHB][hapmap]
rs17144885	1.00[CHB][hapmap]
rs17144893	1.00[CHB][hapmap]
rs17381247	1.00[CEU][hapmap]
rs17440213	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2029036	1.00[CEU][hapmap]
rs2084460	1.00[CHB][hapmap]
rs2377127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs34045550	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4392657	1.00[CHB][hapmap]
rs4634381	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4895183	1.00[JPT][hapmap];0.91[YRI][hapmap]
rs55671162	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56191796	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56406364	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57581390	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59241413	0.80[ASN][1000 genomes]
rs6860946	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6862297	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs6863802	1.00[CHB][hapmap]
rs6870923	1.00[CHB][hapmap]
rs6871241	1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6874109	1.00[JPT][hapmap];0.95[YRI][hapmap]
rs6874399	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6880144	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6892437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs73239055	0.80[ASN][1000 genomes]
rs73239065	0.97[EUR][1000 genomes]
rs73792419	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs767935	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7706037	1.00[CHB][hapmap]
rs7710339	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs7721907	1.00[JPT][hapmap]
rs7724403	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs7724753	1.00[CHB][hapmap]
rs7734815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7737716	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:13 , 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	chr5:118225000-118247000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:118225400-118300400	Weak transcription	Primary B cells from cord blood	blood
4	chr5:118227400-118270600	Weak transcription	Ovary	ovary
5	chr5:118233400-118259000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:118233800-118289200	Weak transcription	Psoas Muscle	Psoas
7	chr5:118239400-118242400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:118239400-118257000	Weak transcription	Fetal Lung	lung
9	chr5:118241000-118242200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:118241000-118245000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:118241200-118248400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:118241200-118248600	Weak transcription	Fetal Heart	heart
13	chr5:118241800-118254400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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