Variant report

Variant	rs13290431
Chromosome Location	chr9:18758439-18758440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7020435	1.00[ASN][1000 genomes]
rs7874290	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS 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	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS 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	9 gene(s)	inside rSNPs	diseases
4	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS 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	6 gene(s)	inside rSNPs	diseases
7	nsv892691	chr9:18519699-18805483	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv892694	chr9:18599029-18767830	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv892697	chr9:18700566-18767830	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18727600-18770000	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:18739800-18763000	Strong transcription	HSMM	muscle
3	chr9:18744000-18760800	Strong transcription	NHDF-Ad	bronchial
4	chr9:18746400-18775800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:18748200-18762200	Strong transcription	Osteobl	bone
6	chr9:18748200-18779600	Weak transcription	Colonic Mucosa	Colon
7	chr9:18749800-18775600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr9:18750200-18762400	Strong transcription	NH-A	brain
9	chr9:18752600-18761000	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr9:18753000-18765200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr9:18755200-18776800	Weak transcription	Aorta	Aorta
12	chr9:18756400-18758800	Enhancers	Fetal Stomach	stomach
13	chr9:18756400-18759000	Enhancers	Fetal Lung	lung
14	chr9:18756800-18759200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:18756800-18761800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:18756800-18787200	Weak transcription	HSMMtube	muscle
17	chr9:18757000-18759000	Weak transcription	Fetal Kidney	kidney
18	chr9:18757000-18760200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr9:18757000-18760400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:18757000-18761000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:18757000-18776400	Weak transcription	NHLF	lung
22	chr9:18757000-18778200	Weak transcription	HUVEC	blood vessel
23	chr9:18757400-18761000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:18757400-18768800	Weak transcription	Fetal Heart	heart
25	chr9:18757800-18758800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:18757800-18760000	Weak transcription	Lung	lung
27	chr9:18758000-18758600	Weak transcription	Gastric	stomach
28	chr9:18758400-18760000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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