Variant report

Variant	rs10044817
Chromosome Location	chr5:5273945-5273946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10041908	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560066	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16875231	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16875264	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16875272	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16875283	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16875291	0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2964388	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5263800-5279000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:5265200-5282600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:5266800-5277000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:5268800-5279200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:5270800-5277000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:5271800-5291400	Weak transcription	Ovary	ovary
7	chr5:5272000-5275200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:5272000-5283600	Weak transcription	Fetal Kidney	kidney
9	chr5:5272200-5276600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:5272200-5277000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:5272200-5279200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:5272400-5274400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:5272400-5276600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:5272400-5276600	Weak transcription	Fetal Brain Male	brain
15	chr5:5272400-5277200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:5272400-5279200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:5272400-5298400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:5273200-5274000	Enhancers	Hela-S3	cervix
19	chr5:5273200-5279200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:5273200-5281000	Weak transcription	NH-A	brain
21	chr5:5273200-5283200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:5273400-5275000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:5273400-5279200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:5273600-5276600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:5273600-5283400	Weak transcription	Pancreas	Pancrea

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