Variant report

Variant	rs2273719
Chromosome Location	chr9:27220066-27220067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10121367	0.93[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.91[ASN][1000 genomes]
rs10812539	0.83[ASN][1000 genomes]
rs10967780	0.85[ASN][1000 genomes]
rs10967783	0.84[ASN][1000 genomes]
rs10967784	0.82[ASN][1000 genomes]
rs10967786	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10967787	0.80[ASN][1000 genomes]
rs10967790	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12337434	0.93[CHB][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.90[ASN][1000 genomes]
rs12338101	0.83[ASN][1000 genomes]
rs12341363	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12348510	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12350032	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12352222	0.81[ASN][1000 genomes]
rs1885381	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2273715	0.93[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2275083	0.89[ASN][1000 genomes]
rs2756901	0.93[CHB][hapmap];0.96[CHD][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs4878366	0.83[ASN][1000 genomes]
rs4879268	0.83[ASN][1000 genomes]
rs561708	0.87[ASN][1000 genomes]
rs67280577	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7874391	0.91[ASN][1000 genomes]
rs7874514	0.93[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs9886732	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9886857	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9987817	0.93[CEU][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016733	chr9:27073650-27264576	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1022313	chr9:27083369-27250505	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1017802	chr9:27088160-27262682	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019104	chr9:27088160-27358206	Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv892864	chr9:27176554-27296705	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv466335	chr9:27179244-27234029	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv613946	chr9:27179244-27234029	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1027482	chr9:27195840-27233157	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1018864	chr9:27195840-27294815	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv2761268	chr9:27195852-27291261	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv466336	chr9:27196119-27292703	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv471294	chr9:27196119-27292703	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv613947	chr9:27196119-27292703	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1033002	chr9:27199373-27232601	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv892865	chr9:27217992-27258216	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27151000-27229200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:27166200-27229000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:27180800-27230600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:27195200-27221800	Weak transcription	Fetal Intestine Large	intestine
5	chr9:27196800-27228800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:27201400-27224800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:27202400-27220600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:27211800-27231600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr9:27212000-27226800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:27212600-27223000	Strong transcription	Adipose Nuclei	Adipose
11	chr9:27212800-27220800	Weak transcription	Placenta	Placenta
12	chr9:27213000-27232800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:27215600-27229400	Weak transcription	Osteobl	bone
14	chr9:27216800-27221200	Strong transcription	Left Ventricle	heart
15	chr9:27217000-27222800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:27217400-27220400	Weak transcription	Liver	Liver
17	chr9:27217600-27220800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:27218200-27223000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:27218400-27220600	Strong transcription	HUVEC	blood vessel
20	chr9:27218600-27221200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr9:27218600-27221200	ZNF genes & repeats	Lung	lung
22	chr9:27218600-27221600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:27218600-27221600	Strong transcription	Aorta	Aorta
24	chr9:27218800-27225800	Weak transcription	Right Ventricle	heart
25	chr9:27219000-27231600	Weak transcription	Fetal Lung	lung
26	chr9:27219200-27221400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:27219200-27222200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:27219200-27223000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:27219400-27230400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr9:27219600-27221400	Strong transcription	Spleen	Spleen
31	chr9:27219600-27222400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:27219600-27222600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr9:27219800-27220200	Strong transcription	Fetal Stomach	stomach
34	chr9:27219800-27221400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr9:27220000-27220400	Weak transcription	Ovary	ovary
36	chr9:27220000-27220600	Weak transcription	Fetal Intestine Small	intestine
37	chr9:27220000-27220800	Strong transcription	Fetal Muscle Leg	muscle
38	chr9:27220000-27222000	Strong transcription	Placenta Amnion	Placenta Amnion

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