Variant report

Variant	rs12003140
Chromosome Location	chr9:18849098-18849099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10118898	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12003678	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs3739485	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18825400-18857200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:18825600-18857400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:18827200-18861600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr9:18830800-18857400	Weak transcription	NHLF	lung
5	chr9:18838800-18849200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:18845200-18852400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:18845200-18853600	Strong transcription	HSMM	muscle
8	chr9:18845200-18854200	Strong transcription	Osteobl	bone
9	chr9:18845200-18854800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:18845600-18849200	Weak transcription	Fetal Muscle Leg	muscle
11	chr9:18845800-18861200	Weak transcription	Aorta	Aorta
12	chr9:18845800-18861800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:18846200-18852200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr9:18846400-18849600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr9:18846600-18850200	Enhancers	Fetal Heart	heart
16	chr9:18846800-18853400	Weak transcription	HSMMtube	muscle
17	chr9:18847400-18858400	Weak transcription	NH-A	brain
18	chr9:18847800-18850200	Weak transcription	Fetal Stomach	stomach
19	chr9:18847800-18858600	Weak transcription	Gastric	stomach
20	chr9:18848000-18849600	Enhancers	Stomach Mucosa	stomach
21	chr9:18848200-18849400	Weak transcription	Right Ventricle	heart
22	chr9:18848400-18849400	Weak transcription	Left Ventricle	heart
23	chr9:18848400-18850600	Strong transcription	NHDF-Ad	bronchial
24	chr9:18848600-18850600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr9:18848800-18849600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr9:18849000-18849200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr9:18849000-18849600	Enhancers	HUVEC	blood vessel
28	chr9:18849000-18850000	Enhancers	Duodenum Mucosa	Duodenum
29	chr9:18849000-18850600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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