Variant report

Variant	rs1474362
Chromosome Location	chr5:111689931-111689932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111683856..111685558-chr5:111688927..111690455,2	MCF-7	breast:
2	chr5:111672466..111674712-chr5:111689508..111691131,2	K562	blood:
3	chr5:111685601..111687919-chr5:111689516..111692384,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1019745	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11739473	0.96[CEU][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes]
rs11744328	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12653972	0.86[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs13355094	0.91[AFR][1000 genomes]
rs13355356	0.91[AFR][1000 genomes]
rs1474361	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2162739	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs365230	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs366180	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs420548	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs441345	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs444205	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4510619	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs451168	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4958038	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs4958042	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60008914	0.84[AFR][1000 genomes]
rs6860443	0.96[CEU][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs6860601	0.89[CEU][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs885137	0.93[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs940470	0.96[CEU][hapmap];0.95[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv462386	chr5:111667572-111699317	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv599372	chr5:111667572-111699317	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv437471	chr5:111682654-111691924	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv274937	chr5:111688750-111691016	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111678600-111695600	Weak transcription	Pancreas	Pancrea
2	chr5:111684000-111702600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:111685200-111690600	Weak transcription	GM12878-XiMat	blood
4	chr5:111685200-111707000	Weak transcription	Ovary	ovary
5	chr5:111685200-111709800	Weak transcription	Aorta	Aorta
6	chr5:111685800-111693600	Weak transcription	Right Atrium	heart
7	chr5:111686400-111692000	Weak transcription	Right Ventricle	heart
8	chr5:111687200-111693600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:111687600-111690400	Weak transcription	HUVEC	blood vessel
10	chr5:111688800-111690400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:111689000-111690400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:111689200-111691800	Weak transcription	Fetal Heart	heart
13	chr5:111689200-111702200	Weak transcription	Gastric	stomach
14	chr5:111689400-111690400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:111689400-111690600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:111689600-111690000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr5:111689600-111690200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:111689600-111690200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:111689600-111690400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:111689600-111690400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:111689600-111690600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:111689600-111693600	Weak transcription	Left Ventricle	heart
23	chr5:111689600-111708800	Weak transcription	Esophagus	oesophagus
24	chr5:111689800-111690000	Enhancers	Brain Anterior Caudate	brain
25	chr5:111689800-111690000	Enhancers	Brain Substantia Nigra	brain
26	chr5:111689800-111690200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:111689800-111690400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:111689800-111690600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:111689800-111691200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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