Variant report

Variant	rs7043485
Chromosome Location	chr9:16505902-16505903
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10117527	0.93[ASN][1000 genomes]
rs10118463	0.88[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs10118467	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10119184	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10119249	0.82[ASN][1000 genomes]
rs10122434	0.85[ASN][1000 genomes]
rs10123674	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10124550	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10124554	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10124761	0.88[YRI][hapmap]
rs10756756	0.80[JPT][hapmap]
rs10756758	0.82[CEU][hapmap];0.80[YRI][hapmap]
rs10810571	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10810572	0.92[EUR][1000 genomes]
rs10810573	0.82[ASN][1000 genomes]
rs10962457	0.90[EUR][1000 genomes]
rs10962461	0.84[CHB][hapmap]
rs10962463	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10962468	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs10962470	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs12377857	0.84[ASN][1000 genomes]
rs1927631	0.84[CHB][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes]
rs28555116	0.83[ASN][1000 genomes]
rs66580280	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7020843	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7021958	0.84[CHB][hapmap]
rs7024707	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7028447	0.89[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7028503	0.85[ASN][1000 genomes]
rs7028666	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7033269	0.87[AFR][1000 genomes]
rs7035687	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7035706	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7041549	0.85[ASN][1000 genomes]
rs7044580	0.89[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7044658	0.87[YRI][hapmap]
rs7848343	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7848584	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7848696	0.92[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7849139	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs7863830	0.94[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16483200-16513600	Weak transcription	Psoas Muscle	Psoas
2	chr9:16495200-16509800	Weak transcription	Aorta	Aorta
3	chr9:16500000-16506400	Enhancers	HUVEC	blood vessel
4	chr9:16500200-16506600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:16500400-16514000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:16502200-16510000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:16502200-16510000	Weak transcription	HMEC	breast
8	chr9:16502400-16509800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:16503600-16506400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr9:16503800-16506600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:16504000-16506200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:16504000-16506400	Enhancers	Hela-S3	cervix
13	chr9:16504000-16506400	Enhancers	NHLF	lung
14	chr9:16504000-16507000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:16504600-16506200	Enhancers	Fetal Stomach	stomach
16	chr9:16504600-16506400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:16504600-16506600	Enhancers	Fetal Lung	lung
18	chr9:16504800-16506000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:16504800-16506000	Enhancers	Colon Smooth Muscle	Colon
20	chr9:16504800-16506200	Enhancers	HSMM	muscle
21	chr9:16505000-16506000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:16505000-16506000	Enhancers	Rectal Smooth Muscle	rectum
23	chr9:16505000-16506000	Enhancers	NHDF-Ad	bronchial
24	chr9:16505000-16506400	Enhancers	Fetal Kidney	kidney
25	chr9:16505000-16507000	Enhancers	Placenta	Placenta
26	chr9:16505200-16506000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr9:16505200-16506000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:16505200-16506000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:16505200-16506000	Enhancers	Adipose Nuclei	Adipose
30	chr9:16505200-16506000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr9:16505200-16506000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr9:16505200-16506200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:16505200-16506400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr9:16505400-16506000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr9:16505400-16506000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr9:16505400-16506400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:16505400-16506400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr9:16505400-16506600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr9:16505400-16510000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:16505400-16510200	Weak transcription	NHEK	skin
41	chr9:16505400-16514000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr9:16505600-16506000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr9:16505600-16506200	Enhancers	NH-A	brain
44	chr9:16505600-16506400	Enhancers	A549	lung
45	chr9:16505600-16506400	Enhancers	Osteobl	bone
46	chr9:16505600-16507000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:16505600-16509200	Weak transcription	Ovary	ovary
48	chr9:16505600-16510000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:16505600-16510000	Weak transcription	HSMMtube	muscle
50	chr9:16505800-16506000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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