Variant report

Variant	rs12005219
Chromosome Location	chr9:18897185-18897186
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10963824	0.86[ASN][1000 genomes]
rs12003911	0.86[ASN][1000 genomes]
rs12004183	0.86[ASN][1000 genomes]
rs72692468	0.86[ASN][1000 genomes]
rs72692472	0.86[ASN][1000 genomes]
rs72692474	1.00[ASN][1000 genomes]
rs72692492	0.87[ASN][1000 genomes]
rs7848851	1.00[ASN][1000 genomes]
rs7859732	1.00[ASN][1000 genomes]
rs7864878	0.87[ASN][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	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	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
5	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
6	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
7	nsv892698	chr9:18830444-18905289	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18889200-18901200	Weak transcription	Colonic Mucosa	Colon
2	chr9:18891200-18898800	Strong transcription	Muscle Satellite Cultured Cells	--
3	chr9:18893600-18899000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:18894400-18897800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:18894400-18897800	ZNF genes & repeats	Fetal Muscle Leg	muscle
6	chr9:18894800-18909200	Weak transcription	Fetal Heart	heart
7	chr9:18895200-18897800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:18895400-18897200	ZNF genes & repeats	NH-A	brain
9	chr9:18895400-18897400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:18895400-18897400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
11	chr9:18895400-18897600	ZNF genes & repeats	HSMM	muscle
12	chr9:18896000-18898400	Strong transcription	Osteobl	bone
13	chr9:18896400-18897200	ZNF genes & repeats	Aorta	Aorta
14	chr9:18896400-18897200	Enhancers	GM12878-XiMat	blood
15	chr9:18896400-18897400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:18896400-18897400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
17	chr9:18896400-18897400	Enhancers	HMEC	breast
18	chr9:18896400-18897600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:18896400-18897600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
20	chr9:18896400-18898200	ZNF genes & repeats	Fetal Stomach	stomach
21	chr9:18896600-18897200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr9:18896600-18897200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr9:18896600-18897400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr9:18896600-18897400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr9:18896600-18897400	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr9:18896600-18897600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:18896600-18897800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:18896800-18897200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr9:18896800-18897200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr9:18896800-18897400	Enhancers	Dnd41	blood
31	chr9:18896800-18910600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr9:18897000-18897800	Strong transcription	NHDF-Ad	bronchial
33	chr9:18897000-18898400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:18897000-18898800	Weak transcription	Gastric	stomach
35	chr9:18897000-18905000	Weak transcription	HSMMtube	muscle
36	chr9:18897000-18905200	Weak transcription	NHLF	lung
37	chr9:18897000-18910600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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