Variant report

Variant	rs2289004
Chromosome Location	chr9:18797180-18797181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10811036	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs2289006	1.00[JPT][hapmap]
rs2289007	0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs4977432	0.94[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4977439	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap]
rs4977440	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4977443	0.82[CHD][hapmap]
rs56235899	0.80[EUR][1000 genomes]
rs715212	1.00[JPT][hapmap]
rs72690557	0.87[EUR][1000 genomes]
rs72690558	0.83[EUR][1000 genomes]
rs72690561	0.88[EUR][1000 genomes]
rs72690565	0.88[EUR][1000 genomes]
rs72690567	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72690576	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690578	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[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	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	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18778000-18798200	Weak transcription	Aorta	Aorta
2	chr9:18778400-18817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:18788000-18799000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:18788000-18825200	Weak transcription	HUVEC	blood vessel
5	chr9:18788800-18806200	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:18791200-18803200	Strong transcription	NH-A	brain
7	chr9:18792800-18797600	Enhancers	Fetal Heart	heart
8	chr9:18793600-18805000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:18795000-18797800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:18795000-18797800	Enhancers	HSMMtube	muscle
11	chr9:18795000-18801200	Genic enhancers	HSMM	muscle
12	chr9:18795200-18797800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:18795200-18798000	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr9:18795200-18800000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:18795200-18800000	Genic enhancers	NHDF-Ad	bronchial
16	chr9:18795400-18798800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:18795600-18797400	Enhancers	Brain Cingulate Gyrus	brain
18	chr9:18795600-18797400	Enhancers	Brain Hippocampus Middle	brain
19	chr9:18795800-18797200	Genic enhancers	Osteobl	bone
20	chr9:18795800-18797400	Enhancers	Brain Anterior Caudate	brain
21	chr9:18795800-18797400	Enhancers	Brain Substantia Nigra	brain
22	chr9:18796000-18797400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr9:18796000-18797400	Enhancers	Fetal Muscle Leg	muscle
24	chr9:18796000-18797600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:18796000-18800200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:18796200-18797600	Genic enhancers	Fetal Stomach	stomach
27	chr9:18796400-18797200	Enhancers	Brain Angular Gyrus	brain
28	chr9:18796600-18798200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr9:18796600-18799800	Weak transcription	NHLF	lung
30	chr9:18796800-18797200	Enhancers	Left Ventricle	heart
31	chr9:18796800-18798600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:18796800-18817400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:18797000-18797400	Enhancers	Gastric	stomach
34	chr9:18797000-18803200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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