Variant report

Variant	rs11833210
Chromosome Location	chr12:48728820-48728821
allele	A/C
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	CEBPB	chr12:48728747-48728933	K562	blood:	n/a	chr12:48728871-48728882
2	ZNF143	chr12:48728795-48728935	K562	blood:	n/a	n/a
3	POLR2A	chr12:48728447-48730748	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr12:48728736-48728939	Hela-S3	cervix:	n/a	chr12:48728871-48728882
5	POLR2A	chr12:48728722-48728977	K562	blood:	n/a	n/a
6	BCL11A	chr12:48728652-48728898	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:48728648-48728848	MCF10A-Er-Src	breast:	n/a	n/a
8	ZNF143	chr12:48728693-48728945	GM12878	blood:	n/a	n/a
9	CEBPB	chr12:48728714-48729014	K562	blood:	n/a	chr12:48728871-48728882
10	CEBPB	chr12:48728786-48728953	HepG2	liver:	n/a	chr12:48728871-48728882
11	CEBPB	chr12:48728691-48728961	K562	blood:	n/a	chr12:48728871-48728882
12	EBF1	chr12:48728682-48729079	GM12878	blood:	n/a	chr12:48728882-48728893
13	POLR2A	chr12:48728662-48728856	Hela-S3	cervix:	n/a	n/a
14	PBX3	chr12:48728644-48728820	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48727374..48736715-chr12:48738720..48747602,13	K562	blood:

Variant related genes	Relation type
ENSG00000258273	TF binding region
ENSG00000257735	Chromatin interaction
ENSG00000167528	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10083019	1.00[AFR][1000 genomes]
rs11168571	1.00[EUR][1000 genomes]
rs11168583	1.00[EUR][1000 genomes]
rs11168585	1.00[EUR][1000 genomes]
rs11168587	1.00[EUR][1000 genomes]
rs11168603	1.00[EUR][1000 genomes]
rs11168610	1.00[EUR][1000 genomes]
rs11503892	1.00[EUR][1000 genomes]
rs11834377	1.00[EUR][1000 genomes]
rs12297166	1.00[ASN][1000 genomes]
rs12300165	1.00[EUR][1000 genomes]
rs12306781	1.00[EUR][1000 genomes]
rs17122786	1.00[EUR][1000 genomes]
rs17824705	1.00[ASN][1000 genomes]
rs28706194	1.00[EUR][1000 genomes]
rs28892442	1.00[EUR][1000 genomes]
rs35725325	1.00[EUR][1000 genomes]
rs55763362	1.00[ASN][1000 genomes]
rs56389692	1.00[ASN][1000 genomes]
rs59339937	1.00[EUR][1000 genomes]
rs59724592	1.00[ASN][1000 genomes]
rs6580667	1.00[ASN][1000 genomes]
rs73296825	1.00[EUR][1000 genomes]
rs74087202	1.00[ASN][1000 genomes]
rs7971250	1.00[ASN][1000 genomes]
rs7971405	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription 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	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv826362	chr12:48693048-48768853	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv437752	chr12:48721832-48741219	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	esv3501066	chr12:48724605-48729122	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
11	nsv438208	chr12:48724778-48734609	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
12	nsv1044444	chr12:48725007-48737570	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
13	esv1008169	chr12:48725141-48732917	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48723800-48736600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:48724200-48734400	Weak transcription	Thymus	Thymus
3	chr12:48724400-48736000	Weak transcription	Fetal Stomach	stomach
4	chr12:48725200-48734600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr12:48725200-48735800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:48725200-48736800	Weak transcription	Hela-S3	cervix
7	chr12:48728000-48736000	Weak transcription	HSMMtube	muscle
8	chr12:48728400-48729000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:48728400-48729200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:48728400-48729200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:48728400-48731200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:48728600-48729000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:48728600-48729000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:48728600-48729000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:48728600-48729000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:48728600-48729000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:48728600-48729000	Enhancers	Spleen	Spleen
18	chr12:48728600-48734000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:48728600-48734800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:48728800-48729000	Enhancers	Adipose Nuclei	Adipose
21	chr12:48728800-48729000	Bivalent Enhancer	Stomach Mucosa	stomach
22	chr12:48728800-48729200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr12:48728800-48733400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:48728800-48734000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:48728800-48736600	Weak transcription	Right Ventricle	heart
26	chr12:48728800-48737000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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