Variant report

Variant	rs12788013
Chromosome Location	chr11:5246595-5246596
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:5244410-5249533	PBDE	blood:	n/a	n/a
2	GATA1	chr11:5244534-5248743	PBDE	blood:	n/a	chr11:5246957-5246974 chr11:5246968-5246975 chr11:5245901-5245914 chr11:5246961-5246982 chr11:5248705-5248715 chr11:5246968-5246975 chr11:5246968-5246975

No.	Distal block	Cell Line	Cell type
1	11:4988858-5002113..11:5243048-5250847	Hela-S3	cervix:
2	chr11:5246037..5247818-chr11:5310743..5312829,2	K562	blood:
3	11:5243048-5250847..11:5349791-5355747	GM12878	blood:
4	11:5033143-5038367..11:5243048-5250847	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000221031	TF binding region
ENSG00000236359	Chromatin interaction
ENSG00000224300	Chromatin interaction
ENSG00000225003	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10742579	0.87[YRI][hapmap]
rs12786766	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12787404	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12787536	0.89[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12787645	0.82[EUR][1000 genomes]
rs12788454	0.86[EUR][1000 genomes]
rs12788935	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12788941	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12788947	0.89[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12789987	0.86[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12790395	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12793110	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12795819	0.89[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12796962	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12798120	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12799332	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12799602	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12804349	0.89[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12804890	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12804991	0.86[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12805013	0.89[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12805180	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12805212	1.00[CEU][hapmap]
rs12806120	0.85[CEU][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12806612	0.89[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12806621	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12807743	0.88[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34394840	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35207925	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35662174	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36110466	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4910733	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs61880432	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6578585	1.00[CHB][hapmap]
rs7104342	0.89[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7110263	1.00[CEU][hapmap]
rs7111669	0.85[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71459864	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7929190	0.88[EUR][1000 genomes]
rs7930968	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs7933098	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7933295	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7936402	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7936561	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7936648	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7945652	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7946748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950726	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7952354	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042613	chr11:5173410-5336839	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1051488	chr11:5175477-5258490	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv1048593	chr11:5183176-5261470	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv1045187	chr11:5183176-5262622	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1052798	chr11:5184546-5269330	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1052750	chr11:5187571-5338802	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv896929	chr11:5192095-5271671	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1038871	chr11:5192334-5301415	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv540942	chr11:5192334-5301415	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	nsv1048355	chr11:5192334-5336839	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv1050550	chr11:5228195-5320334	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv1037760	chr11:5228195-5338802	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv1054068	chr11:5228264-5336839	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv1036997	chr11:5243698-5287790	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5244800-5248200	Weak transcription	Gastric	stomach
2	chr11:5245200-5254200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:5246000-5246800	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:5246000-5247000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:5246000-5247200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
6	chr11:5246200-5246600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:5246200-5247400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
8	chr11:5246400-5246800	Enhancers	K562	blood

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