Variant report

Variant	rs9508643
Chromosome Location	chr13:30701595-30701596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs4769028	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769808	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769810	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs533910	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533937	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs549744	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs584999	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585049	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641545	0.85[CHB][hapmap]
rs66587785	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7334284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7334437	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7984451	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8000970	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9506264	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9506265	0.81[EUR][1000 genomes]
rs9506266	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9508639	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9508641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9508642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9508644	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9508646	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9508647	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers 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	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30694400-30707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30696400-30707000	Weak transcription	Thymus	Thymus
3	chr13:30696600-30702800	Weak transcription	Fetal Thymus	thymus
4	chr13:30697800-30702200	Enhancers	Colon Smooth Muscle	Colon
5	chr13:30697800-30702600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr13:30698200-30701800	Enhancers	Stomach Smooth Muscle	stomach
7	chr13:30698200-30702400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:30698400-30701600	Enhancers	Rectal Smooth Muscle	rectum
9	chr13:30698400-30701800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:30699400-30701600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:30699400-30701800	Enhancers	NHLF	lung
12	chr13:30699400-30701800	Enhancers	Osteobl	bone
13	chr13:30699400-30702000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:30699600-30701600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:30700200-30707000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:30700200-30708000	Weak transcription	NH-A	brain
17	chr13:30700200-30717200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:30700400-30702000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:30700600-30702200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:30700800-30702400	Enhancers	Fetal Heart	heart
21	chr13:30700800-30702400	Enhancers	Stomach Mucosa	stomach
22	chr13:30700800-30706800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr13:30701000-30702200	Enhancers	Gastric	stomach
24	chr13:30701200-30701600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr13:30701200-30702200	Enhancers	Left Ventricle	heart
26	chr13:30701200-30702800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr13:30701400-30701600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr13:30701400-30702000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:30701400-30707000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr13:30701400-30707000	Weak transcription	NHDF-Ad	bronchial

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