Variant report

Variant	rs218012
Chromosome Location	chr8:118714401-118714402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12542251	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1508566	0.82[ASN][1000 genomes]
rs218011	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218017	0.91[CEU][hapmap];0.88[YRI][hapmap]
rs218018	1.00[ASW][hapmap];0.92[CEU][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs218023	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2737419	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876383	0.95[ASN][1000 genomes]
rs6469701	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6987749	0.95[ASN][1000 genomes]
rs6998416	0.95[ASN][1000 genomes]
rs7018293	0.92[ASN][1000 genomes]
rs729929	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831438	chr8:118679896-118823600	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv891410	chr8:118684994-118730344	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1018830	chr8:118705140-118720649	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118689200-118718600	Weak transcription	Osteobl	bone
2	chr8:118694600-118723800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:118702200-118724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:118705800-118714600	Weak transcription	Esophagus	oesophagus
5	chr8:118708600-118725200	Weak transcription	Ovary	ovary
6	chr8:118709600-118715400	Weak transcription	NHDF-Ad	bronchial
7	chr8:118710400-118737200	Weak transcription	Aorta	Aorta
8	chr8:118711000-118714600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:118714000-118714600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:118714000-118715000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:118714000-118715200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:118714400-118714600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:118714400-118714800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:118714400-118714800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:118714400-118714800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:118714400-118714800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:118714400-118714800	Enhancers	HSMMtube	muscle
18	chr8:118714400-118715000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:118714400-118715000	Flanking Active TSS	HUVEC	blood vessel
20	chr8:118714400-118715200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:118714400-118715400	Enhancers	HSMM	muscle
22	chr8:118714400-118715600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:118714400-118715600	Enhancers	Fetal Lung	lung
24	chr8:118714400-118715600	Enhancers	Fetal Stomach	stomach
25	chr8:118714400-118715800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:118714400-118716000	Enhancers	Fetal Muscle Leg	muscle

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