Variant report

Variant	rs17188802
Chromosome Location	chr13:93914112-93914113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93911742..93916096-chr13:93916981..93919803,4	K562	blood:
2	chr13:93912123..93915920-chr13:93916981..93919803,3	K562	blood:
3	chr13:93911697..93914279-chr9:134147732..134150706,2	K562	blood:
4	chr13:93912200..93914635-chr13:93946034..93948972,2	K562	blood:
5	chr13:93910173..93912256-chr13:93913262..93915945,3	K562	blood:
6	chr13:93906252..93907789-chr13:93914055..93916085,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1008993	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs1328366	1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1328370	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16948547	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs17267523	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17645969	0.81[EUR][1000 genomes]
rs17645998	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs59772512	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61963718	0.83[EUR][1000 genomes]
rs61963740	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61963741	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61963744	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61963746	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61963747	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61963748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61965664	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61965665	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72633947	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2751156	chr13:93912999-93988638	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93897200-93923000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr13:93901400-93923400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:93902400-93914200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:93903000-93922800	Weak transcription	Fetal Stomach	stomach
5	chr13:93903000-93923000	Weak transcription	Fetal Intestine Small	intestine
6	chr13:93904800-93915000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:93910800-93920600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:93910800-93920800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr13:93911200-93922200	Weak transcription	HepG2	liver
10	chr13:93911600-93915000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:93911600-93917200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:93912200-93915000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr13:93912400-93915800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:93912800-93914400	Enhancers	Liver	Liver
15	chr13:93912800-93915600	Enhancers	HSMM	muscle
16	chr13:93912800-93915600	Enhancers	Osteobl	bone
17	chr13:93913000-93915400	Enhancers	NH-A	brain
18	chr13:93913000-93916400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:93913200-93915600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:93913200-93915600	Enhancers	HSMMtube	muscle
21	chr13:93913200-93916400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:93913600-93915600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:93913600-93920400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr13:93913800-93914200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:93913800-93915600	Enhancers	HMEC	breast
26	chr13:93913800-93920600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr13:93914000-93914400	Weak transcription	NHDF-Ad	bronchial
28	chr13:93914000-93915000	Weak transcription	Adipose Nuclei	Adipose
29	chr13:93914000-93915800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:93914000-93916400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:93914000-93921000	Weak transcription	A549	lung

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