Variant report

Variant	rs1952347
Chromosome Location	chr9:16516941-16516942
allele	A/G
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:8)

rs_ID	r²[population]
rs10962467	0.84[ASW][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10962472	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.92[ASN][1000 genomes]
rs12346420	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs1927632	0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs2149157	0.83[CHB][hapmap]
rs2891071	0.84[ASW][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4961492	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4961722	0.83[CHB][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	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv892647	chr9:16476144-16521534	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv466265	chr9:16484731-16516941	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
7	nsv613670	chr9:16484731-16516941	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16512400-16517400	Enhancers	Ovary	ovary
2	chr9:16513600-16517200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:16513600-16517200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:16513600-16517400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr9:16513800-16517200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr9:16513800-16517200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:16513800-16517600	Enhancers	Fetal Stomach	stomach
8	chr9:16513800-16517800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:16514000-16517200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:16514000-16517200	Enhancers	HSMM	muscle
11	chr9:16514000-16517400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr9:16514000-16517600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr9:16514000-16517800	Enhancers	Colon Smooth Muscle	Colon
14	chr9:16514000-16518000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:16514000-16518000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:16514000-16518000	Enhancers	NHLF	lung
17	chr9:16514000-16518000	Enhancers	Osteobl	bone
18	chr9:16514200-16517000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr9:16514200-16517200	Enhancers	NHDF-Ad	bronchial
20	chr9:16514400-16519400	Weak transcription	Psoas Muscle	Psoas
21	chr9:16514800-16517800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr9:16514800-16518000	Enhancers	A549	lung
23	chr9:16514800-16518400	Enhancers	HUVEC	blood vessel
24	chr9:16515000-16517200	Enhancers	Fetal Thymus	thymus
25	chr9:16515000-16517200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr9:16515200-16517800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:16515200-16517800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:16515200-16517800	Enhancers	Adipose Nuclei	Adipose
29	chr9:16515400-16518000	Enhancers	Rectal Smooth Muscle	rectum
30	chr9:16515600-16517800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr9:16515600-16518200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr9:16515600-16518200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:16515600-16519600	Weak transcription	Fetal Brain Male	brain
34	chr9:16515600-16522000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr9:16515600-16532600	Weak transcription	Aorta	Aorta
36	chr9:16516000-16517600	Enhancers	Fetal Kidney	kidney
37	chr9:16516200-16517200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:16516200-16517200	Enhancers	Stomach Smooth Muscle	stomach
39	chr9:16516200-16517600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:16516200-16517600	Enhancers	NH-A	brain
41	chr9:16516200-16519400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:16516200-16521200	Weak transcription	Fetal Muscle Leg	muscle
43	chr9:16516200-16521600	Weak transcription	HSMMtube	muscle
44	chr9:16516200-16521800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr9:16516200-16522000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr9:16516200-16522000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr9:16516200-16522000	Weak transcription	Left Ventricle	heart
48	chr9:16516200-16522200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:16516200-16524800	Weak transcription	Lung	lung
50	chr9:16516400-16517200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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