Variant report

Variant	rs10967719
Chromosome Location	chr9:27108810-27108811
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:27108656-27110039	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr9:27108788-27109616	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
TEK	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10511796	1.00[CEU][hapmap]
rs10812505	1.00[CEU][hapmap]
rs10812509	1.00[CEU][hapmap]
rs10812510	1.00[CEU][hapmap]
rs10812513	1.00[CEU][hapmap]
rs10812517	1.00[CEU][hapmap]
rs10812522	1.00[CEU][hapmap]
rs10812524	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10967599	1.00[CEU][hapmap]
rs10967611	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs10967621	1.00[CEU][hapmap]
rs10967627	1.00[CEU][hapmap]
rs10967630	1.00[CEU][hapmap]
rs10967633	1.00[CEU][hapmap]
rs10967635	1.00[CEU][hapmap];0.84[MEX][hapmap]
rs10967649	1.00[CEU][hapmap];0.83[MEX][hapmap]
rs10967650	1.00[CEU][hapmap]
rs10967661	1.00[CEU][hapmap]
rs10967673	0.82[EUR][1000 genomes]
rs10967678	1.00[CEU][hapmap]
rs10967681	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10967688	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10967694	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10967695	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10967699	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10967701	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10967710	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10967711	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10967717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12235354	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12236850	1.00[CEU][hapmap];0.84[MEX][hapmap]
rs12684983	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28434215	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3739544	1.00[CEU][hapmap]
rs55759630	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56903929	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57314689	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57692080	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60281060	0.85[EUR][1000 genomes]
rs7024327	0.80[EUR][1000 genomes]
rs7031984	1.00[CEU][hapmap]
rs7035447	1.00[CEU][hapmap];0.84[MEX][hapmap]
rs7045339	1.00[CEU][hapmap]
rs72713716	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73440262	0.86[AFR][1000 genomes]
rs73440263	0.86[AFR][1000 genomes]
rs7869798	1.00[CEU][hapmap]
rs7874940	1.00[CEU][hapmap]
rs7875171	1.00[CEU][hapmap]
rs9644870	1.00[CEU][hapmap];0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517269	chr9:26945976-27137242	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv892862	chr9:26956663-27190655	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27096800-27109000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:27108200-27109000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr9:27108400-27109000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr9:27108600-27109000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:27108600-27109000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:27108600-27109000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:27108600-27109600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:27108600-27111000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr9:27108800-27109000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:27108800-27109000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr9:27108800-27109000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:27108800-27109000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr9:27108800-27109000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:27108800-27109000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr9:27108800-27109000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:27108800-27109000	Enhancers	Fetal Lung	lung
17	chr9:27108800-27109000	Enhancers	Fetal Muscle Leg	muscle
18	chr9:27108800-27109000	Active TSS	Ovary	ovary
19	chr9:27108800-27109000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr9:27108800-27109000	Enhancers	NH-A	brain
21	chr9:27108800-27109200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:27108800-27109200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr9:27108800-27109200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr9:27108800-27109200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr9:27108800-27109200	Active TSS	Adipose Nuclei	Adipose
26	chr9:27108800-27109200	Enhancers	Fetal Stomach	stomach
27	chr9:27108800-27109400	Active TSS	NHDF-Ad	bronchial
28	chr9:27108800-27109600	Flanking Active TSS	HUVEC	blood vessel
29	chr9:27108800-27109600	Enhancers	NHLF	lung
30	chr9:27108800-27109800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr9:27108800-27109800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:27108800-27109800	Flanking Active TSS	Osteobl	bone
33	chr9:27108800-27110000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:27108800-27110600	Active TSS	H1 Cell Line	embryonic stem cell
35	chr9:27108800-27111600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr9:27108800-27111800	Active TSS	Right Atrium	heart
37	chr9:27108800-27112000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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