Variant report

Variant	rs12788454
Chromosome Location	chr11:5217785-5217786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5145799..5146631-chr11:5217510..5218294,2	K562	blood:
2	11:5146608-5154908..11:5217159-5218976	K562	blood:
3	11:5217159-5218976..11:5321718-5325668	K562	blood:
4	chr11:5216220..5220735-chr11:5221265..5224295,5	K562	blood:
5	11:5217159-5218976..11:5700314-5707362	K562	blood:
6	chr11:5191979..5193506-chr11:5217289..5219722,2	K562	blood:
7	chr11:5208760..5213541-chr11:5217325..5221735,4	K562	blood:
8	chr11:5216417..5219337-chr11:5231565..5234054,2	K562	blood:
9	chr11:5216338..5218129-chr11:5279337..5280949,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183251	Chromatin interaction
ENSG00000176752	Chromatin interaction
ENSG00000171944	Chromatin interaction
ENSG00000132256	Chromatin interaction
ENSG00000176742	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10742573	1.00[ASN][1000 genomes]
rs12786766	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12787404	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12787536	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12787645	0.85[EUR][1000 genomes]
rs12788013	0.86[EUR][1000 genomes]
rs12788935	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12788941	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12788947	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12789987	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12790395	0.87[EUR][1000 genomes]
rs12793110	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12795819	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12796962	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12798120	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12799332	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12799602	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12804349	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12804890	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804991	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12805013	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12805180	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12805224	0.82[AFR][1000 genomes]
rs12806120	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12806612	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12806621	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12807743	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34394840	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35207925	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35662174	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36110466	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910733	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61880432	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7104342	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7111669	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71459864	0.85[EUR][1000 genomes]
rs7929190	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930968	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7933098	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7933295	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7936402	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7936561	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7936648	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7945652	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7946748	0.86[EUR][1000 genomes]
rs7950726	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7952354	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760169	chr11:4961518-5233821	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv896920	chr11:5068137-5221825	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv896924	chr11:5098714-5221825	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv896925	chr11:5140977-5221825	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv1048350	chr11:5189296-5225842	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
12	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
13	nsv1049387	chr11:5192334-5231273	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv540941	chr11:5192334-5231273	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	esv2752788	chr11:5193410-5226318	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
19	nsv523914	chr11:5207389-5231565	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5217200-5217800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:5217200-5217800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr11:5217200-5217800	Flanking Active TSS	K562	blood
4	chr11:5217400-5217800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr11:5217600-5220200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:5217600-5226000	Weak transcription	NHLF	lung

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