Variant report

Variant	rs13285648
Chromosome Location	chr9:108082922-108082923
allele	C/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:40)

rs_ID	r²[population]
rs10114041	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10118989	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10120572	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10120853	1.00[MEX][hapmap]
rs11506819	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12115775	1.00[TSI][hapmap]
rs12335518	1.00[TSI][hapmap]
rs12338806	1.00[TSI][hapmap]
rs12343676	1.00[TSI][hapmap]
rs13286370	1.00[EUR][1000 genomes]
rs13297127	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13299679	1.00[EUR][1000 genomes]
rs1397665	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1397666	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16924617	1.00[TSI][hapmap]
rs34030286	1.00[EUR][1000 genomes]
rs34668343	0.87[EUR][1000 genomes]
rs35293517	0.87[EUR][1000 genomes]
rs35412407	0.87[EUR][1000 genomes]
rs35413260	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35825389	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36019711	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36112131	1.00[EUR][1000 genomes]
rs4394455	1.00[TSI][hapmap]
rs4538947	1.00[MEX][hapmap]
rs7021567	1.00[EUR][1000 genomes]
rs7022737	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7025543	1.00[TSI][hapmap]
rs7028183	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7034136	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7035065	1.00[MEX][hapmap]
rs7048586	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs71494513	0.87[EUR][1000 genomes]
rs71494515	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71494516	1.00[EUR][1000 genomes]
rs71494517	1.00[EUR][1000 genomes]
rs71494518	1.00[EUR][1000 genomes]
rs71494519	1.00[EUR][1000 genomes]
rs7856524	1.00[TSI][hapmap]
rs7857293	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045108	chr9:107509553-108188550	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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 target site	27 gene(s)	inside rSNPs	diseases
2	nsv831678	chr9:107923522-108112813	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv893685	chr9:107940737-108083485	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
4	nsv893686	chr9:107968330-108083485	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Active 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	11 gene(s)	inside rSNPs	diseases
5	nsv893687	chr9:107973277-108083485	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv893688	chr9:107974761-108083485	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv893689	chr9:107978563-108130606	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv893690	chr9:107992706-108083485	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108054600-108090800	Weak transcription	Psoas Muscle	Psoas
2	chr9:108055600-108151200	Weak transcription	Esophagus	oesophagus
3	chr9:108062200-108084000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:108062200-108091400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr9:108062200-108091800	Weak transcription	Aorta	Aorta
6	chr9:108062200-108098800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr9:108062400-108098800	Weak transcription	Spleen	Spleen
8	chr9:108062400-108104600	Weak transcription	Right Ventricle	heart
9	chr9:108062600-108083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:108062600-108083400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:108062600-108090800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:108062600-108090800	Weak transcription	Fetal Thymus	thymus
13	chr9:108062600-108091000	Weak transcription	Adipose Nuclei	Adipose
14	chr9:108062600-108091600	Weak transcription	NHDF-Ad	bronchial
15	chr9:108062600-108098600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr9:108062600-108098800	Weak transcription	Left Ventricle	heart
17	chr9:108062600-108098800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr9:108062800-108098400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr9:108062800-108098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:108063200-108087400	Weak transcription	Fetal Brain Female	brain
21	chr9:108063800-108087400	Weak transcription	Fetal Lung	lung
22	chr9:108066200-108098600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr9:108068800-108098600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr9:108069000-108104000	Weak transcription	Fetal Heart	heart
25	chr9:108070400-108087000	Weak transcription	Fetal Brain Male	brain
26	chr9:108070400-108091800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:108070400-108093400	Weak transcription	Gastric	stomach
28	chr9:108070400-108094600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:108070800-108084400	Weak transcription	Small Intestine	intestine
30	chr9:108071400-108090400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr9:108071600-108099000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr9:108071800-108097800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr9:108072200-108090200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr9:108072200-108090400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:108072400-108087200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:108072400-108094200	Weak transcription	HSMM	muscle
37	chr9:108072400-108098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:108072600-108091400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr9:108072600-108094800	Weak transcription	HSMMtube	muscle
40	chr9:108076000-108096200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:108076600-108089800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:108077200-108090800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr9:108078400-108101800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:108079000-108083800	Enhancers	Fetal Intestine Small	intestine
45	chr9:108079200-108084800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr9:108079400-108083200	Enhancers	Fetal Intestine Large	intestine
47	chr9:108079600-108098800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:108080000-108098800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr9:108080400-108097800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr9:108081000-108083600	Enhancers	Liver	Liver

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