Variant report

Variant	esv3433489
Chromosome Location	chr11:17311493-17311976
allele	n/a
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	STAT3	chr11:17311488-17311599	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:17308283..17309860-chr11:17310824..17312984,2	K562	blood:
2	chr11:17305212..17308146-chr11:17308901..17311776,2	K562	blood:
3	chr11:17289797..17291811-chr11:17310885..17313618,2	MCF-7	breast:

Variant related genes	Relation type
NUCB2	TF binding region
ENSG00000070081	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144259143	chr11:17311528-17311529	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531018617	chr11:17311565-17311566	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556083400	chr11:17311614-17311615	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574353007	chr11:17311619-17311620	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542142247	chr11:17311628-17311629	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554150111	chr11:17311638-17311639	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549508887	chr11:17311641-17311642	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12286012	chr11:17311660-17311661	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs564149170	chr11:17311681-17311682	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538009897	chr11:17311775-17311776	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187294753	chr11:17311795-17311796	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs214106	chr11:17311811-17311812	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs12272752	chr11:17311827-17311828	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192408883	chr11:17311830-17311831	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530085401	chr11:17311886-17311887	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548455524	chr11:17311904-17311905	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372268535	chr11:17311916-17311917	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566850041	chr11:17311930-17311931	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369015801	chr11:17311940-17311941	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183800702	chr11:17311947-17311948	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17299000-17316200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:17299000-17320000	Weak transcription	Esophagus	oesophagus
3	chr11:17299000-17323200	Weak transcription	Ovary	ovary
4	chr11:17299000-17323400	Weak transcription	Aorta	Aorta
5	chr11:17299000-17357200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:17299000-17357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:17299000-17360600	Weak transcription	Small Intestine	intestine
8	chr11:17299200-17317800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:17299200-17317800	Weak transcription	Right Ventricle	heart
10	chr11:17299200-17319800	Weak transcription	Fetal Intestine Small	intestine
11	chr11:17299200-17325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:17299200-17329600	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:17299200-17357000	Weak transcription	Brain Substantia Nigra	brain
14	chr11:17299400-17317000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:17299400-17317400	Weak transcription	HSMM	muscle
16	chr11:17299400-17318000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:17299400-17318000	Weak transcription	NH-A	brain
18	chr11:17299400-17338200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:17299400-17355400	Weak transcription	Brain Angular Gyrus	brain
20	chr11:17299400-17357000	Weak transcription	Fetal Intestine Large	intestine
21	chr11:17299600-17335000	Weak transcription	Primary B cells from cord blood	blood
22	chr11:17299800-17327600	Weak transcription	HUVEC	blood vessel
23	chr11:17300200-17314800	Weak transcription	GM12878-XiMat	blood
24	chr11:17300200-17335000	Weak transcription	Fetal Brain Male	brain
25	chr11:17301600-17350400	Weak transcription	Fetal Heart	heart
26	chr11:17302200-17321800	Weak transcription	NHEK	skin
27	chr11:17302400-17313800	Weak transcription	Stomach Mucosa	stomach
28	chr11:17302600-17329600	Weak transcription	K562	blood
29	chr11:17305800-17332400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:17306000-17311800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:17306200-17312200	Strong transcription	Thymus	Thymus
32	chr11:17306200-17353000	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:17307600-17328000	Weak transcription	Pancreas	Pancrea
34	chr11:17307800-17312600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:17307800-17333600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:17308000-17316200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:17308200-17313200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:17308200-17317200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:17308200-17318000	Weak transcription	Adipose Nuclei	Adipose
40	chr11:17308200-17323000	Weak transcription	Lung	lung
41	chr11:17308200-17335800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:17308200-17353600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:17308200-17357600	Weak transcription	HepG2	liver
44	chr11:17308200-17360800	Strong transcription	Fetal Thymus	thymus
45	chr11:17308200-17372600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:17308400-17314800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:17308400-17317800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:17308400-17335000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:17308400-17335000	Weak transcription	NHLF	lung
50	chr11:17308400-17356800	Weak transcription	Brain Cingulate Gyrus	brain

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