Variant report

Variant	rs6135517
Chromosome Location	chr20:15770383-15770384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10460644	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16996551	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1810505	0.88[EUR][1000 genomes]
rs2041422	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs2103709	0.84[CEU][hapmap]
rs2109535	0.81[ASN][1000 genomes]
rs2876413	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs4813196	0.83[JPT][hapmap]
rs6034289	0.83[JPT][hapmap]
rs6043538	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs6105464	0.81[CEU][hapmap]
rs6131708	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6131709	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6131710	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6131711	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs6131712	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6131726	0.84[CEU][hapmap];0.87[GIH][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs6135498	0.87[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs6135503	0.96[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs6135524	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6135525	0.84[CEU][hapmap];0.82[CHB][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6135526	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6135547	0.80[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs6135550	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs6135551	0.92[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes]
rs6135555	0.90[EUR][1000 genomes]
rs6135556	0.85[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes]
rs6135558	0.80[CHB][hapmap]
rs763660	0.87[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs8118724	0.92[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv833928	chr20:15619962-15780758	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv458934	chr20:15738086-15772582	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv585641	chr20:15738086-15772582	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv585642	chr20:15738086-15772876	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv519883	chr20:15738086-15817106	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv585643	chr20:15759361-15796051	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv912793	chr20:15760969-15807441	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv833929	chr20:15765372-15977337	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1847965	chr20:15766727-15807441	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv585644	chr20:15766727-15807441	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15767200-15770800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr20:15768800-15770400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:15768800-15770400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr20:15770000-15770400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr20:15770000-15770800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr20:15770000-15775000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:15770000-15775200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:15770200-15770600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr20:15770200-15773400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr20:15770200-15773600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr20:15770200-15773800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr20:15770200-15775000	Weak transcription	Brain Germinal Matrix	brain
13	chr20:15770200-15775200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr20:15770200-15775800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr20:15770200-15776400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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