Variant report

Variant	rs10040074
Chromosome Location	chr5:5183409-5183410
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5177669..5180666-chr5:5181916..5184715,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10036706	0.82[CHB][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes]
rs10037656	0.91[AMR][1000 genomes]
rs10038199	0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs1428012	0.80[AMR][1000 genomes]
rs1560064	0.80[AMR][1000 genomes]
rs4701693	0.82[AMR][1000 genomes]
rs871122	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	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
5	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv526817	chr5:5181558-5183783	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5177600-5185000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:5179000-5188400	Weak transcription	Liver	Liver
3	chr5:5180400-5184800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr5:5181800-5184000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:5181800-5184000	Enhancers	NH-A	brain
6	chr5:5181800-5185200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:5181800-5185200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:5181800-5185200	Enhancers	Ovary	ovary
9	chr5:5182000-5184000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:5182000-5200400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:5182400-5183600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr5:5182400-5184000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:5182600-5184000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:5182800-5184000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr5:5182800-5184400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:5183000-5183600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:5183000-5184000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:5183000-5184000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:5183000-5184000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr5:5183000-5184000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:5183000-5184000	Enhancers	Fetal Kidney	kidney
22	chr5:5183000-5184600	Enhancers	Pancreas	Pancrea
23	chr5:5183000-5192600	Weak transcription	HSMMtube	muscle
24	chr5:5183200-5183600	Enhancers	Fetal Lung	lung
25	chr5:5183200-5183800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr5:5183200-5183800	Enhancers	Gastric	stomach
27	chr5:5183400-5183600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr5:5183400-5183800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:5183400-5184200	Bivalent Enhancer	Fetal Stomach	stomach
30	chr5:5183400-5186000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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