Variant report

Variant	rs1563020
Chromosome Location	chr2:50372774-50372775
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	chr2:50371657..50373870-chr2:50397104..50398913,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10490240	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs10490243	1.00[CHB][hapmap]
rs11125290	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11125291	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs11125292	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11125294	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11125295	0.87[CEU][hapmap]
rs11888330	0.88[CEU][hapmap]
rs11896556	0.81[CEU][hapmap]
rs12466807	0.88[CEU][hapmap]
rs12468252	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs12468477	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs12470002	1.00[CHB][hapmap]
rs12472712	1.00[CHB][hapmap]
rs12472743	1.00[CHB][hapmap]
rs12473119	1.00[CHB][hapmap]
rs12475100	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12476530	0.82[CHB][hapmap]
rs12477934	1.00[CHB][hapmap]
rs12478732	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12622844	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap]
rs12622858	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12986904	1.00[CHB][hapmap]
rs1377233	0.84[CHB][hapmap]
rs1377238	0.87[CEU][hapmap]
rs1421573	0.82[CEU][hapmap];0.92[YRI][hapmap]
rs1452769	0.86[CEU][hapmap]
rs1452771	0.88[CEU][hapmap]
rs1452778	1.00[CHB][hapmap]
rs1452779	1.00[CHB][hapmap]
rs1452781	1.00[CHB][hapmap]
rs1452783	1.00[CHB][hapmap]
rs1517827	0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap]
rs1563019	0.87[CEU][hapmap]
rs1563024	1.00[CHB][hapmap]
rs1563026	1.00[CHB][hapmap]
rs1563027	1.00[CHB][hapmap]
rs1563028	0.87[CEU][hapmap]
rs1584763	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17039801	1.00[CHB][hapmap]
rs17039807	1.00[CHB][hapmap]
rs17039932	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs17039940	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs17039947	0.87[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs17039976	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17039979	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs17039985	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17040013	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17040034	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs17040064	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17040090	0.87[CEU][hapmap]
rs17040117	0.87[CEU][hapmap]
rs17040123	0.87[CEU][hapmap]
rs17040138	0.88[CEU][hapmap]
rs17040141	0.88[CEU][hapmap]
rs17040147	0.87[CEU][hapmap]
rs17040160	0.87[CEU][hapmap]
rs17040169	0.88[CEU][hapmap]
rs1961358	1.00[CHB][hapmap]
rs2045003	0.95[CHB][hapmap]
rs2123388	1.00[CHB][hapmap]
rs4641977	1.00[CHB][hapmap]
rs4971648	1.00[CHB][hapmap]
rs4971649	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4971650	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4971652	0.87[CEU][hapmap]
rs4971653	0.88[CEU][hapmap]
rs4971655	0.87[CEU][hapmap]
rs4971656	0.88[CEU][hapmap]
rs4971658	0.88[CEU][hapmap]
rs4971659	0.88[CEU][hapmap]
rs6712102	0.82[CEU][hapmap]
rs6712423	0.81[CEU][hapmap]
rs6716404	1.00[CHB][hapmap]
rs6731397	1.00[CEU][hapmap]
rs7590544	1.00[CHB][hapmap]
rs7599349	0.88[CEU][hapmap]
rs7607863	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs896683	1.00[CHB][hapmap]
rs896684	1.00[CHB][hapmap]
rs921572	0.84[CHB][hapmap]
rs921573	0.84[CHB][hapmap]
rs930752	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2756536	chr2:50313811-50375695	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv527569	chr2:50371688-50373620	Weak transcription Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50371400-50374400	Weak transcription	Brain Germinal Matrix	brain
2	chr2:50371600-50373400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:50371600-50373800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:50371600-50373800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:50371600-50374000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:50371600-50375000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:50371600-50375200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:50371600-50375600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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