Variant report

Variant	rs11049995
Chromosome Location	chr12:9435725-9435726
allele	C/T
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	ARID3A	chr12:9435670-9436330	K562	blood:	n/a	n/a
2	POLR2A	chr12:9435577-9437200	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr12:9435644-9437034	MCF10A-Er-Src	breast:	n/a	chr12:9436241-9436250 chr12:9436328-9436338 chr12:9436874-9436886
4	KAP1	chr12:9435487-9435999	K562	blood:	n/a	n/a
5	STAT3	chr12:9435713-9436067	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:9428390..9430208-chr12:9433960..9436399,2	K562	blood:
2	chr12:9423398..9426359-chr12:9434637..9436174,2	K562	blood:
3	chr12:9423398..9429968-chr12:9431078..9436174,6	K562	blood:

Variant related genes	Relation type
ENSG00000111788	TF binding region
ENSG00000256069	Chromatin interaction
ENSG00000111788	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10743622	1.00[YRI][hapmap]
rs56994845	1.00[AMR][1000 genomes]
rs58602855	1.00[AMR][1000 genomes]
rs60044048	1.00[AMR][1000 genomes]
rs60784396	1.00[AMR][1000 genomes]
rs74061036	1.00[AMR][1000 genomes]
rs74061039	1.00[AMR][1000 genomes]
rs74061053	1.00[AMR][1000 genomes]
rs74061070	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv557355	chr12:9309995-9529015	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1035953	chr12:9314481-9544655	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
8	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
9	nsv1048917	chr12:9393282-9436132	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv916832	chr12:9397450-9693952	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv976736	chr12:9431362-9524845	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9434200-9435800	Weak transcription	Liver	Liver
2	chr12:9435200-9435800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:9435200-9435800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:9435200-9435800	Enhancers	Fetal Lung	lung
5	chr12:9435200-9435800	Enhancers	NHDF-Ad	bronchial
6	chr12:9435200-9436000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:9435200-9436400	Active TSS	Fetal Brain Male	brain
8	chr12:9435400-9435800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:9435400-9435800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:9435400-9435800	Enhancers	Brain Substantia Nigra	brain
11	chr12:9435400-9435800	Enhancers	Dnd41	blood
12	chr12:9435400-9435800	Enhancers	HepG2	liver
13	chr12:9435400-9436000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:9435400-9436200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:9435400-9436200	Enhancers	Fetal Heart	heart
16	chr12:9435400-9436400	Enhancers	Hela-S3	cervix
17	chr12:9435400-9437800	Active TSS	A549	lung
18	chr12:9435400-9464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:9435600-9435800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:9435600-9435800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr12:9435600-9435800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr12:9435600-9436000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:9435600-9436000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:9435600-9436000	Enhancers	Colon Smooth Muscle	Colon
25	chr12:9435600-9436000	Enhancers	Duodenum Mucosa	Duodenum
26	chr12:9435600-9436000	Weak transcription	NHEK	skin
27	chr12:9435600-9436200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr12:9435600-9436400	Active TSS	Primary T cells from cord blood	blood
29	chr12:9435600-9437800	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr12:9435600-9437800	Active TSS	GM12878-XiMat	blood

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