Variant report

Variant	rs2057525
Chromosome Location	chr13:93957816-93957817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:93941657..93944083-chr13:93956949..93958594,2	K562	blood:
2	chr13:93957288..93959129-chr13:93987026..93989631,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10507998	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1323997	1.00[CEU][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1328373	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1328374	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16948616	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17267544	0.85[CEU][hapmap];0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs17267585	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2025948	0.92[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4142602	0.92[CEU][hapmap];0.82[MEX][hapmap]
rs72635668	0.83[ASN][1000 genomes]
rs72635674	0.82[ASN][1000 genomes]
rs7339043	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9301866	1.00[CEU][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9516201	0.82[ASN][1000 genomes]
rs9516203	0.85[CEU][hapmap];0.88[CHB][hapmap];0.85[MEX][hapmap];0.84[ASN][1000 genomes]
rs9516204	0.92[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs9516205	0.92[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs9516208	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9523984	0.84[ASN][1000 genomes]
rs9523985	0.84[ASN][1000 genomes]
rs9523992	0.82[CEU][hapmap];0.84[ASN][1000 genomes]
rs9523993	0.85[CEU][hapmap];0.88[CHB][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs9523994	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs9523995	0.85[CEU][hapmap];0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs9523996	0.92[CEU][hapmap];0.82[MEX][hapmap]
rs9524000	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs9524001	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9556278	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9561296	0.85[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs9561297	0.85[CEU][hapmap];0.88[CHB][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs9561300	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9561305	1.00[CEU][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9561306	1.00[CEU][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv900919	chr13:93957816-94030693	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93943600-93962200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:93952400-93965000	Weak transcription	Fetal Kidney	kidney
3	chr13:93955600-93958200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:93956600-93958000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:93956600-93958400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:93957000-93958000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:93957200-93958200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:93957400-93958000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:93957400-93958200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:93957400-93962000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr13:93957600-93958000	Enhancers	NHLF	lung
12	chr13:93957600-93958200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr13:93957600-93959200	Enhancers	Fetal Lung	lung
14	chr13:93957600-93960000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:93957600-93960000	Enhancers	Osteobl	bone
16	chr13:93957600-93968400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:93957800-93958000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr13:93957800-93958200	Enhancers	Fetal Brain Female	brain
19	chr13:93957800-93959200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:93957800-93959400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:93957800-93960000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:93957800-93960000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr13:93957800-93962000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr13:93957800-93962200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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