Variant report

Variant	rs12291914
Chromosome Location	chr11:74173286-74173287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74170865..74173373-chr11:74203287..74204858,2	K562	blood:
2	chr11:74169367..74173365-chr11:74176278..74179176,5	K562	blood:
3	chr11:74171843..74173907-chr11:74203180..74205587,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175538	Chromatin interaction
ENSG00000254837	Chromatin interaction
ENSG00000175536	Chromatin interaction
ENSG00000077514	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11236111	0.83[AFR][1000 genomes]
rs11236118	1.00[AFR][1000 genomes]
rs12270975	0.92[AFR][1000 genomes]
rs12271302	1.00[AFR][1000 genomes]
rs12273068	0.96[AFR][1000 genomes]
rs12285733	0.96[AFR][1000 genomes]
rs12295841	0.92[AFR][1000 genomes]
rs58116543	1.00[AFR][1000 genomes]
rs60716017	0.92[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74160400-74177800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:74167400-74175600	Strong transcription	Fetal Stomach	stomach
3	chr11:74168600-74175000	Weak transcription	Esophagus	oesophagus
4	chr11:74168600-74177600	Weak transcription	Small Intestine	intestine
5	chr11:74169000-74174200	Weak transcription	Gastric	stomach
6	chr11:74170600-74173600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr11:74171200-74173400	Active TSS	Primary B cells from cord blood	blood
8	chr11:74171400-74173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:74171600-74173400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:74171600-74173800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:74171800-74173600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:74171800-74177000	Weak transcription	Fetal Kidney	kidney
13	chr11:74172000-74177200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:74172200-74173400	Active TSS	HSMMtube	muscle
15	chr11:74172200-74173600	Flanking Active TSS	K562	blood
16	chr11:74172200-74177400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:74172400-74177800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:74172600-74173400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:74172600-74173600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr11:74172800-74173400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr11:74172800-74173400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:74172800-74173400	Flanking Active TSS	Fetal Lung	lung
23	chr11:74172800-74173400	Flanking Active TSS	HepG2	liver
24	chr11:74172800-74174000	Enhancers	Ovary	ovary
25	chr11:74172800-74174600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr11:74172800-74176600	Enhancers	Stomach Mucosa	stomach
27	chr11:74173000-74173400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:74173000-74173400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:74173000-74173400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr11:74173000-74173400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:74173000-74173400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:74173000-74173400	Enhancers	Fetal Muscle Trunk	muscle
33	chr11:74173000-74173400	Flanking Active TSS	Pancreas	Pancrea
34	chr11:74173000-74173400	Enhancers	HSMM	muscle
35	chr11:74173000-74173800	Enhancers	Brain Anterior Caudate	brain
36	chr11:74173000-74174200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr11:74173000-74174400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr11:74173000-74175000	Enhancers	Lung	lung
39	chr11:74173200-74173400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:74173200-74173400	Enhancers	Colonic Mucosa	Colon
41	chr11:74173200-74173400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:74173200-74173400	Weak transcription	Right Atrium	heart
43	chr11:74173200-74173600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr11:74173200-74173600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:74173200-74173600	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr11:74173200-74173800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:74173200-74173800	Enhancers	Brain Substantia Nigra	brain
48	chr11:74173200-74173800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:74173200-74174000	Enhancers	Adipose Nuclei	Adipose
50	chr11:74173200-74174000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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