Variant report

Variant	rs12273068
Chromosome Location	chr11:74177429-74177430
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	POLR2A	chr11:74172545-74179851	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr11:74177284-74178973	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:74175244..74178880-chr11:74203216..74205739,4	MCF-7	breast:
2	chr11:74175411..74179003-chr11:74201966..74206100,6	MCF-7	breast:
3	chr11:74175366..74177621-chr11:74184353..74186919,2	MCF-7	breast:
4	chr11:74176347..74178704-chr11:74203526..74206053,3	K562	blood:

Variant related genes	Relation type
KCNE3	TF binding region
ENSG00000175536	Chromatin interaction
ENSG00000077514	Chromatin interaction
ENSG00000254837	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11236111	0.80[AFR][1000 genomes]
rs11236118	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12270975	0.88[AFR][1000 genomes]
rs12271302	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12285733	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12291914	0.96[AFR][1000 genomes]
rs12292862	0.91[YRI][hapmap]
rs12293015	0.91[YRI][hapmap]
rs12295841	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs4944893	0.83[YRI][hapmap]
rs58116543	0.96[AFR][1000 genomes]
rs60716017	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS 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	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv555443	chr11:74109166-74180489	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1041154	chr11:74114801-74177909	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv393	chr11:74135862-74181417	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv832209	chr11:74155883-74329119	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv897913	chr11:74171997-74216705	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74160400-74177800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:74168600-74177600	Weak transcription	Small Intestine	intestine
3	chr11:74172400-74177800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:74173200-74178000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:74173400-74177800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:74173600-74177800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:74173600-74177800	Weak transcription	Right Atrium	heart
8	chr11:74173800-74177800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:74173800-74177800	Weak transcription	Brain Anterior Caudate	brain
10	chr11:74173800-74177800	Weak transcription	Brain Substantia Nigra	brain
11	chr11:74174000-74177600	Weak transcription	Ovary	ovary
12	chr11:74174000-74177800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:74174000-74177800	Weak transcription	Placenta	Placenta
14	chr11:74174200-74177600	Weak transcription	Liver	Liver
15	chr11:74174200-74177800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:74174200-74177800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:74174200-74177800	Weak transcription	Spleen	Spleen
18	chr11:74174400-74177600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr11:74175000-74177800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:74175000-74179600	Enhancers	HepG2	liver
21	chr11:74175800-74177800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:74176000-74177800	Enhancers	Pancreas	Pancrea
23	chr11:74176000-74177800	Enhancers	K562	blood
24	chr11:74176400-74177800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:74176400-74177800	Active TSS	Fetal Stomach	stomach
26	chr11:74176600-74177600	Enhancers	Adipose Nuclei	Adipose
27	chr11:74176600-74177800	Enhancers	Brain Hippocampus Middle	brain
28	chr11:74176600-74178000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:74176600-74178800	Active TSS	Duodenum Mucosa	Duodenum
30	chr11:74176600-74179000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:74176800-74177800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:74176800-74177800	Weak transcription	Lung	lung
33	chr11:74177000-74177800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
34	chr11:74177000-74178800	Active TSS	Stomach Mucosa	stomach
35	chr11:74177000-74179200	Active TSS	Colonic Mucosa	Colon
36	chr11:74177200-74177800	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr11:74177200-74177800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr11:74177200-74179000	Active TSS	Gastric	stomach
39	chr11:74177200-74179000	Active TSS	Rectal Smooth Muscle	rectum
40	chr11:74177400-74177600	Active TSS	Fetal Intestine Small	intestine
41	chr11:74177400-74177600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr11:74177400-74177800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
43	chr11:74177400-74177800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:74177400-74177800	Enhancers	Esophagus	oesophagus
45	chr11:74177400-74177800	Active TSS	Fetal Lung	lung
46	chr11:74177400-74177800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr11:74177400-74177800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:74177400-74178200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr11:74177400-74179000	Active TSS	Fetal Kidney	kidney

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