Variant report

Variant	rs10511597
Chromosome Location	chr9:14753463-14753464
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1389735	1.00[MEX][hapmap]
rs1494349	0.81[ASN][1000 genomes]
rs16932258	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16932262	0.85[ASN][1000 genomes]
rs72709599	0.81[ASN][1000 genomes]
rs72711305	0.81[ASN][1000 genomes]
rs72711307	0.81[ASN][1000 genomes]
rs72711309	0.81[ASN][1000 genomes]
rs923919	0.80[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3362157	chr9:14542189-14791977	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1025566	chr9:14687088-14791199	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv892614	chr9:14712257-14756969	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14730800-14764400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:14732600-14755200	Weak transcription	Fetal Intestine Large	intestine
3	chr9:14745000-14809800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:14748800-14754000	Weak transcription	Adipose Nuclei	Adipose
5	chr9:14748800-14775600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:14748800-14775800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:14748800-14790000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:14749400-14755000	Weak transcription	Colon Smooth Muscle	Colon
9	chr9:14749800-14753600	Enhancers	HUVEC	blood vessel
10	chr9:14750200-14754800	Weak transcription	Aorta	Aorta
11	chr9:14750200-14755000	Weak transcription	Pancreas	Pancrea
12	chr9:14750600-14753600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:14750600-14756200	Weak transcription	Fetal Brain Male	brain
14	chr9:14750800-14755400	Weak transcription	Fetal Stomach	stomach
15	chr9:14751400-14754600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:14751600-14754400	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:14751800-14754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:14752200-14759400	Strong transcription	HepG2	liver
19	chr9:14752600-14756000	Strong transcription	Fetal Kidney	kidney
20	chr9:14752800-14754600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:14752800-14759800	Weak transcription	Fetal Heart	heart
22	chr9:14752800-14775800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr9:14753200-14754000	Weak transcription	Fetal Lung	lung
24	chr9:14753400-14753800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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