Variant report

Variant	nsv975140
Chromosome Location	chr11:4233677-4238097
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	MAZ	chr11:4235661-4235679	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:4234470-4234814	MCF10A-Er-Src	breast:	n/a	n/a
3	RCOR1	chr11:4235541-4235553	HepG2	liver:	n/a	n/a
4	WRNIP1	chr11:4236327-4236330	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255387	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559199147	chr11:4233686-4233687	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs3063951	chr11:4233690-4233691	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs34053244	chr11:4233691-4233692	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375779976	chr11:4233692-4233693	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs397817638	chr11:4233693-4233694	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs78599341	chr11:4233694-4233695	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373048976	chr11:4233769-4233770	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190841568	chr11:4233773-4233774	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139566542	chr11:4233778-4233779	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs537491357	chr11:4234487-4234488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs552601174	chr11:4234495-4234496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs77476991	chr11:4234512-4234513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs10767891	chr11:4234524-4234525	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs75797531	chr11:4234580-4234581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs567701120	chr11:4234604-4234605	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs577271298	chr11:4234650-4234651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs16929991	chr11:4234748-4234749	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556629288	chr11:4234780-4234781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs74051973	chr11:4234783-4234784	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7103144	chr11:4234786-4234787	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs149792624	chr11:4234810-4234811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs182748600	chr11:4235548-4235549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs551186155	chr11:4235667-4235668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4233000-4233800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:4233200-4233800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:4233200-4233800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:4233200-4233800	Active TSS	Right Atrium	heart
5	chr11:4233200-4233800	Bivalent Enhancer	K562	blood
6	chr11:4233400-4233800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr11:4233400-4233800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:4233400-4233800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr11:4233400-4233800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:4233600-4233800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
11	chr11:4233600-4233800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr11:4233600-4233800	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:4233600-4233800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:4233600-4233800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:4233600-4233800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr11:4233600-4233800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
17	chr11:4233600-4233800	Active TSS	Ovary	ovary

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