Variant report

Variant	rs1539614
Chromosome Location	chr9:117454583-117454584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10114581	0.81[ASN][1000 genomes]
rs10123202	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10125974	0.85[ASN][1000 genomes]
rs10739424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10739425	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10739426	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10982368	0.85[EUR][1000 genomes]
rs10982373	0.80[EUR][1000 genomes]
rs1328537	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1359992	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1410559	0.97[ASN][1000 genomes]
rs1410560	0.97[ASN][1000 genomes]
rs2183019	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2296948	0.83[EUR][1000 genomes]
rs4979450	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4979456	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4979458	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7846710	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7853396	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7860022	0.97[ASN][1000 genomes]
rs7872042	0.81[ASN][1000 genomes]
rs9886711	0.80[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	nsv1048093	chr9:116945025-117456210	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
2	nsv1052877	chr9:116953739-117456210	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv1039681	chr9:116953739-117457158	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv1044374	chr9:116955841-117460150	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv466534	chr9:116956268-117455810	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
6	nsv615234	chr9:116956268-117455810	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv1048817	chr9:116957958-117456210	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
8	nsv615236	chr9:116958144-117455810	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
9	nsv466535	chr9:116958144-117456175	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
10	nsv615237	chr9:116958144-117456175	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
11	nsv615238	chr9:116958144-117458475	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
12	nsv430094	chr9:116958446-117456446	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
13	nsv831694	chr9:117328640-117502785	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv893766	chr9:117385992-117516418	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1042718	chr9:117435306-117488969	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117451800-117454600	Enhancers	HSMM	muscle
2	chr9:117452400-117454600	Enhancers	Primary T cells fromperipheralblood	blood
3	chr9:117452400-117454800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr9:117452600-117454800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:117452600-117455200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr9:117452600-117457600	Enhancers	NHDF-Ad	bronchial
7	chr9:117452800-117454600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr9:117453000-117456000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:117453400-117454600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:117453600-117457600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:117453800-117454800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:117453800-117455000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:117453800-117455800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:117454000-117454600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr9:117454000-117454600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr9:117454000-117454600	Enhancers	Osteobl	bone
17	chr9:117454000-117454800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr9:117454000-117455600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr9:117454000-117457400	Enhancers	HSMMtube	muscle
20	chr9:117454000-117457600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:117454000-117457600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:117454000-117457600	Enhancers	HMEC	breast
23	chr9:117454000-117459000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr9:117454000-117459000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:117454200-117454800	Enhancers	NHEK	skin
26	chr9:117454200-117455200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:117454200-117455200	Weak transcription	NHLF	lung
28	chr9:117454200-117456200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:117454200-117456400	Weak transcription	HUVEC	blood vessel
30	chr9:117454200-117459600	Weak transcription	Hela-S3	cervix
31	chr9:117454400-117454800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr9:117454400-117455400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr9:117454400-117455800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:117454400-117456000	Weak transcription	NH-A	brain
35	chr9:117454400-117458200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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