Variant report

Variant	rs1330067
Chromosome Location	chr13:91885239-91885240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:91883445..91885911-chr13:91887432..91889535,2	K562	blood:
2	chr13:91884146..91887064-chr13:92005810..92007927,2	K562	blood:
3	chr13:91883488..91886150-chr13:92002562..92005490,3	K562	blood:

Variant related genes	Relation type
ENSG00000215417	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10454517	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11839269	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1332214	1.00[EUR][1000 genomes]
rs1332221	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs1332222	1.00[ASN][1000 genomes]
rs1332223	1.00[EUR][1000 genomes]
rs1332224	1.00[EUR][1000 genomes]
rs16945551	1.00[EUR][1000 genomes]
rs16945563	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945595	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs6492531	1.00[EUR][1000 genomes]
rs6492532	1.00[EUR][1000 genomes]
rs7318410	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs7324724	1.00[EUR][1000 genomes]
rs7325457	1.00[EUR][1000 genomes]
rs7328566	1.00[EUR][1000 genomes]
rs7328753	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7328963	1.00[EUR][1000 genomes]
rs7332514	1.00[EUR][1000 genomes]
rs7332740	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332819	1.00[EUR][1000 genomes]
rs7333912	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336155	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs7338957	1.00[EUR][1000 genomes]
rs7358978	1.00[EUR][1000 genomes]
rs7993938	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998828	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8001570	1.00[EUR][1000 genomes]
rs9301714	1.00[EUR][1000 genomes]
rs9301715	1.00[EUR][1000 genomes]
rs9301718	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9583900	1.00[EUR][1000 genomes]
rs9589135	1.00[EUR][1000 genomes]
rs9589139	1.00[EUR][1000 genomes]
rs9589143	1.00[EUR][1000 genomes]
rs9589144	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9589145	1.00[EUR][1000 genomes]
rs9589147	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9589150	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs9589153	1.00[EUR][1000 genomes]
rs987770	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs988411	1.00[EUR][1000 genomes]
rs988412	1.00[EUR][1000 genomes]
rs990484	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
2	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	esv1803618	chr13:91669587-92277699	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1945 gene(s)	inside rSNPs	diseases
4	nsv1050259	chr13:91759549-92152078	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
5	nsv541872	chr13:91759549-92152078	Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
6	nsv832678	chr13:91771619-91932241	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2756325	chr13:91836410-91890606	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2756433	chr13:91841599-91968099	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv832679	chr13:91859467-92030220	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1943 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91874600-91890600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr13:91881200-91886000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr13:91884200-91887000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:91884200-91887400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr13:91884600-91885400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:91884600-91885800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:91884800-91886200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:91885000-91885400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:91885000-91885400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr13:91885000-91885600	Enhancers	Fetal Brain Male	brain

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