Variant report

Variant	nsv8774
Chromosome Location	chr11:3639521-3645929
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	CTCF	chr11:3643800-3643950	WERI-Rb-1	eye:	n/a	n/a
2	JUN	chr11:3645335-3645375	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:3639412-3639599	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:3642486-3642502	MCF-7	breast:	n/a	n/a
5	ZNF263	chr11:3639188-3639657	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3640981..3643163-chr11:3645928..3648472,2	K562	blood:
2	chr11:3635682..3637406-chr11:3642517..3644691,2	K562	blood:
3	chr11:3635648..3637182-chr11:3642262..3644691,2	K562	blood:

Variant related genes	Relation type
TRPC2	TF binding region
ENSG00000182048	chromatin interactions

Extended variants
information (count: 274 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537441973	chr11:3639543-3639544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558478536	chr11:3639572-3639573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569886030	chr11:3639579-3639580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530639670	chr11:3639581-3639582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571803706	chr11:3639611-3639612	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs552314014	chr11:3639687-3639688	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs534415756	chr11:3639772-3639773	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs61878475	chr11:3639873-3639874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148309581	chr11:3639880-3639881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111776233	chr11:3639881-3639882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377240471	chr11:3639959-3639960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149730019	chr11:3640001-3640002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150859138	chr11:3640087-3640088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574099359	chr11:3640113-3640114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535385095	chr11:3640118-3640119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138189441	chr11:3640120-3640121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543169253	chr11:3640161-3640162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563197852	chr11:3640188-3640189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192391479	chr11:3640190-3640191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546116127	chr11:3640235-3640236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78884069	chr11:3640236-3640237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558363961	chr11:3640336-3640337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184352879	chr11:3640349-3640350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80146328	chr11:3640351-3640352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142584792	chr11:3640352-3640353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374193097	chr11:3640354-3640355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544566368	chr11:3640362-3640363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11499763	chr11:3640412-3640413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11499764	chr11:3640430-3640431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs564408043	chr11:3640459-3640460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115406387	chr11:3640482-3640483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376620953	chr11:3640493-3640494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549553328	chr11:3640502-3640503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528210884	chr11:3640521-3640522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374385067	chr11:3640538-3640539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567766550	chr11:3640554-3640555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11500153	chr11:3640555-3640556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556903709	chr11:3640568-3640569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569480216	chr11:3640573-3640574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188799578	chr11:3640580-3640581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376343979	chr11:3640581-3640582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372496643	chr11:3640596-3640597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181212773	chr11:3640606-3640607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540444492	chr11:3640693-3640694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573488389	chr11:3640694-3640695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538693418	chr11:3640696-3640697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144602667	chr11:3640704-3640705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555920274	chr11:3640759-3640760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529265209	chr11:3640812-3640813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574044229	chr11:3640821-3640822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3636000-3639800	Weak transcription	Thymus	Thymus
2	chr11:3636000-3648400	Weak transcription	Right Atrium	heart
3	chr11:3636400-3646800	Weak transcription	Spleen	Spleen
4	chr11:3638000-3639600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:3638200-3640000	Enhancers	Placenta	Placenta
6	chr11:3638200-3643600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:3638600-3640000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:3638600-3647400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:3638800-3639600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:3639000-3639800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr11:3639400-3639600	Enhancers	GM12878-XiMat	blood
12	chr11:3639600-3639800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:3639600-3643800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:3640000-3641400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:3641400-3641600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:3643600-3644000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:3643800-3644200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:3643800-3644600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:3643800-3644600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr11:3644000-3644400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:3644000-3644400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:3644000-3645800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:3644200-3644600	Enhancers	Adipose Nuclei	Adipose
24	chr11:3644200-3647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:3644400-3646800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:3644400-3647600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:3644600-3646600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr11:3644600-3647200	Weak transcription	Adipose Nuclei	Adipose
29	chr11:3644600-3647200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr11:3645400-3645800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:3645400-3646000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:3645400-3646000	Enhancers	Brain Germinal Matrix	brain
33	chr11:3645600-3647200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:3645800-3647200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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