Variant report

Variant	rs17009611
Chromosome Location	chr4:126325698-126325699
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10212833	0.87[CHB][hapmap]
rs12643623	0.83[EUR][1000 genomes]
rs12650847	1.00[JPT][hapmap]
rs13435740	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1396695	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1509285	0.82[CHB][hapmap]
rs17009497	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17009524	0.82[CHB][hapmap];0.92[YRI][hapmap]
rs17009615	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs17009625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2016343	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6816784	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72675308	0.83[ASN][1000 genomes]
rs72675316	0.83[EUR][1000 genomes]
rs7666354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7688616	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs974243	1.00[JPT][hapmap];0.81[YRI][hapmap]
rs992122	0.82[CHB][hapmap];0.96[YRI][hapmap]
rs9994504	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv470070	chr4:126299145-126408586	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126308400-126336000	Weak transcription	Left Ventricle	heart
2	chr4:126310800-126336000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:126311600-126336000	Weak transcription	Aorta	Aorta
4	chr4:126311800-126341800	Weak transcription	Fetal Heart	heart
5	chr4:126311800-126343600	Weak transcription	Fetal Stomach	stomach
6	chr4:126312000-126338200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:126312000-126354400	Weak transcription	HSMM	muscle
8	chr4:126312200-126342800	Weak transcription	NHLF	lung
9	chr4:126316000-126329200	Weak transcription	NHDF-Ad	bronchial
10	chr4:126316600-126354600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:126316800-126336200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:126318000-126336200	Weak transcription	Fetal Brain Male	brain
13	chr4:126319000-126338000	Weak transcription	Fetal Brain Female	brain
14	chr4:126319000-126343800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:126319800-126336200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:126320000-126332000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:126320000-126343400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:126320200-126328000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:126320200-126329200	Weak transcription	HUVEC	blood vessel
20	chr4:126320200-126336400	Weak transcription	Adipose Nuclei	Adipose
21	chr4:126320200-126354400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:126320600-126344400	Weak transcription	Lung	lung
23	chr4:126320800-126330800	Weak transcription	Fetal Kidney	kidney
24	chr4:126323000-126326000	Weak transcription	Fetal Lung	lung
25	chr4:126323200-126328600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:126323600-126335800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:126323600-126336600	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:126324800-126344400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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