Variant report

Variant	rs8001306
Chromosome Location	chr13:93915074-93915075
allele	C/T
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	chr13:93910173..93912256-chr13:93913262..93915945,3	K562	blood:
4	chr13:93906252..93907789-chr13:93914055..93916085,2	K562	blood:
5	chr13:93875719..93877813-chr13:93914572..93917548,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1323973	1.00[EUR][1000 genomes]
rs16948585	1.00[EUR][1000 genomes]
rs60085090	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7319423	1.00[EUR][1000 genomes]
rs7324873	1.00[EUR][1000 genomes]
rs7326459	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7335164	1.00[EUR][1000 genomes]
rs73540357	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73554207	1.00[EUR][1000 genomes]
rs7981301	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7987788	1.00[EUR][1000 genomes]
rs7996825	1.00[CHB][hapmap]
rs7997563	0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7999261	1.00[EUR][1000 genomes]
rs9584097	1.00[CHB][hapmap]

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:33 , 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	chr13:93903000-93922800	Weak transcription	Fetal Stomach	stomach
4	chr13:93903000-93923000	Weak transcription	Fetal Intestine Small	intestine
5	chr13:93910800-93920600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:93910800-93920800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:93911200-93922200	Weak transcription	HepG2	liver
8	chr13:93911600-93917200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:93912400-93915800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:93912800-93915600	Enhancers	HSMM	muscle
11	chr13:93912800-93915600	Enhancers	Osteobl	bone
12	chr13:93913000-93915400	Enhancers	NH-A	brain
13	chr13:93913000-93916400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:93913200-93915600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:93913200-93915600	Enhancers	HSMMtube	muscle
16	chr13:93913200-93916400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:93913600-93915600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:93913600-93920400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr13:93913800-93915600	Enhancers	HMEC	breast
20	chr13:93913800-93920600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr13:93914000-93915800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:93914000-93916400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:93914000-93921000	Weak transcription	A549	lung
24	chr13:93914200-93915400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:93914200-93915600	Enhancers	NHEK	skin
26	chr13:93914200-93915800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:93914400-93915600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:93914800-93915600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr13:93915000-93915200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr13:93915000-93915200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr13:93915000-93915400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:93915000-93915600	Enhancers	Adipose Nuclei	Adipose
33	chr13:93915000-93915600	Enhancers	K562	blood

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