Variant report

Variant	rs1927630
Chromosome Location	chr9:16502113-16502114
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10118119	0.82[ASN][1000 genomes]
rs10124761	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10738435	0.90[ASN][1000 genomes]
rs10756757	0.80[ASN][1000 genomes]
rs3829848	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7023752	0.89[ASN][1000 genomes]
rs7044658	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs943737	0.87[ASN][1000 genomes]
rs943738	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv892646	chr9:16476144-16514375	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	lncRNA	n/a	inside rSNPs	diseases
6	nsv892647	chr9:16476144-16521534	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv466265	chr9:16484731-16516941	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
8	nsv613670	chr9:16484731-16516941	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16471000-16504600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:16483200-16513600	Weak transcription	Psoas Muscle	Psoas
3	chr9:16485000-16504800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr9:16485400-16505000	Weak transcription	HSMMtube	muscle
5	chr9:16485800-16505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:16488200-16504600	Weak transcription	Fetal Stomach	stomach
7	chr9:16488200-16505200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:16488800-16505000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:16489000-16504800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:16494000-16505000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr9:16494600-16504600	Weak transcription	Fetal Lung	lung
12	chr9:16495200-16509800	Weak transcription	Aorta	Aorta
13	chr9:16497200-16503000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:16497200-16504800	Weak transcription	Colon Smooth Muscle	Colon
15	chr9:16499600-16502400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:16499800-16502200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:16499800-16502200	Enhancers	HMEC	breast
18	chr9:16499800-16502200	Enhancers	NHEK	skin
19	chr9:16499800-16502400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:16499800-16502400	Enhancers	NH-A	brain
21	chr9:16499800-16502800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:16500000-16502200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:16500000-16502200	Enhancers	Hela-S3	cervix
24	chr9:16500000-16502200	Enhancers	NHLF	lung
25	chr9:16500000-16502400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:16500000-16502400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:16500000-16502400	Enhancers	HSMM	muscle
28	chr9:16500000-16502400	Enhancers	NHDF-Ad	bronchial
29	chr9:16500000-16505000	Enhancers	Osteobl	bone
30	chr9:16500000-16506400	Enhancers	HUVEC	blood vessel
31	chr9:16500200-16506600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:16500400-16514000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:16501600-16502200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr9:16501600-16502400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr9:16501600-16504400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:16501600-16504800	Weak transcription	A549	lung
37	chr9:16501800-16502400	Enhancers	Ovary	ovary
38	chr9:16501800-16504600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:16502000-16502200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr9:16502000-16504600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:16502000-16505400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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