Variant report

Variant	rs11050517
Chromosome Location	chr12:30032590-30032591
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30029795..30032959-chr12:30033915..30036859,3	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1007811	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10431222	0.88[AFR][1000 genomes]
rs10771594	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10771595	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10771597	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771598	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10771599	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10843529	0.82[AFR][1000 genomes]
rs10843530	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10843532	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843533	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843535	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10843540	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10843541	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843542	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843543	0.90[EUR][1000 genomes]
rs10843544	0.89[EUR][1000 genomes]
rs10843561	0.80[EUR][1000 genomes]
rs11050510	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050522	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11050531	0.90[EUR][1000 genomes]
rs11050532	0.90[EUR][1000 genomes]
rs11050533	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12302114	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1545889	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1564772	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1564773	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2062290	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2062294	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2062295	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2129137	0.81[AFR][1000 genomes]
rs2129140	0.86[YRI][hapmap]
rs2129141	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2351015	0.93[YRI][hapmap]
rs4606557	0.89[EUR][1000 genomes]
rs4623987	0.89[EUR][1000 genomes]
rs6487852	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6487854	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6487855	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6487856	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487857	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6487858	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6487859	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487860	0.90[EUR][1000 genomes]
rs7132925	0.89[EUR][1000 genomes]
rs7133046	0.82[AFR][1000 genomes]
rs7134717	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7134917	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7136379	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7294362	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7302158	0.86[AFR][1000 genomes]
rs7308200	0.81[EUR][1000 genomes]
rs7962173	0.90[EUR][1000 genomes]
rs7971964	0.81[EUR][1000 genomes]
rs7972251	0.81[EUR][1000 genomes]
rs7979975	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7980162	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7980933	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv526146	chr12:29989292-30112823	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2758302	chr12:30023167-30175232	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2759889	chr12:30023167-30175232	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30032200-30033200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr12:30032200-30033400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:30032200-30033400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:30032200-30033400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:30032400-30032800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr12:30032400-30032800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:30032400-30033000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:30032400-30033200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:30032400-30033200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:30032400-30033400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:30032400-30033400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:30032400-30033400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:30032400-30033400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:30032400-30033400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:30032400-30033600	Enhancers	Fetal Heart	heart

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