Variant report

Variant	nsv972092
Chromosome Location	chr11:3622019-3626480
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	ARID3A	chr11:3626269-3626631	K562	blood:	n/a	n/a
2	ATF1	chr11:3626172-3626398	K562	blood:	n/a	n/a
3	CCNT2	chr11:3626204-3626406	K562	blood:	n/a	chr11:3626337-3626357
4	CEBPB	chr11:3626133-3626406	K562	blood:	n/a	n/a
5	CUX1	chr11:3626174-3626571	K562	blood:	n/a	n/a
6	EP300	chr11:3625511-3625763	K562	blood:	n/a	n/a
7	EP300	chr11:3625443-3625714	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr11:3626150-3626645	K562	blood:	n/a	n/a
9	GATA1	chr11:3625371-3626756	K562	blood:	n/a	chr11:3626473-3626490 chr11:3626348-3626355 chr11:3626337-3626354 chr11:3626348-3626355 chr11:3626348-3626355
10	GATA1	chr11:3625947-3626857	PBDE	blood:	n/a	chr11:3626473-3626490 chr11:3626348-3626355 chr11:3626337-3626354 chr11:3626348-3626355 chr11:3626348-3626355
11	GATA2	chr11:3626104-3626436	K562	blood:	n/a	chr11:3626348-3626355 chr11:3626337-3626354 chr11:3626348-3626355 chr11:3626348-3626355
12	HMGN3	chr11:3626174-3626508	K562	blood:	n/a	n/a
13	JUND	chr11:3626200-3626589	K562	blood:	n/a	n/a
14	JUND	chr11:3625611-3625716	K562	blood:	n/a	n/a
15	MAFF	chr11:3624227-3624297	HepG2	liver:	n/a	chr11:3624245-3624263
16	MAFK	chr11:3626240-3626316	K562	blood:	n/a	n/a
17	MAFK	chr11:3624194-3624345	HepG2	liver:	n/a	n/a
18	RCOR1	chr11:3625464-3625705	K562	blood:	n/a	n/a
19	RCOR1	chr11:3626151-3626393	K562	blood:	n/a	n/a
20	RCOR1	chr11:3626157-3626494	K562	blood:	n/a	n/a
21	STAT3	chr11:3626366-3626372	MCF10A-Er-Src	breast:	n/a	n/a
22	TAL1	chr11:3626134-3626592	K562	blood:	n/a	chr11:3626337-3626355 chr11:3626472-3626490
23	TBL1XR1	chr11:3626238-3626461	K562	blood:	n/a	n/a
24	TBL1XR1	chr11:3625546-3625701	K562	blood:	n/a	n/a
25	TEAD4	chr11:3626111-3626500	K562	blood:	n/a	n/a
26	UBTF	chr11:3626195-3626235	K562	blood:	n/a	n/a
27	ZMIZ1	chr11:3625560-3625715	K562	blood:	n/a	n/a
28	ZNF384	chr11:3626097-3626497	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3624727..3627376-chr11:3629301..3631751,2	K562	blood:

Variant related genes	Relation type
TRPC2	TF binding region
OR7E117P	TF binding region
ENSG00000182048	chromatin interactions

Extended variants
information (count: 218 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189175887	chr11:3622029-3622030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199526856	chr11:3622054-3622055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377748297	chr11:3622095-3622096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200579175	chr11:3622104-3622105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531151095	chr11:3622112-3622113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552450171	chr11:3622113-3622114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180910945	chr11:3622130-3622131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202028472	chr11:3622154-3622155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61878467	chr11:3622183-3622184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61878468	chr11:3622205-3622206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534902155	chr11:3622225-3622226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12803617	chr11:3622253-3622254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185975171	chr11:3622254-3622255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535900278	chr11:3622258-3622259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565243919	chr11:3622281-3622282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557114637	chr11:3622298-3622299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61878469	chr11:3622326-3622327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537369234	chr11:3622352-3622353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558877580	chr11:3622353-3622354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546909861	chr11:3622393-3622394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541251724	chr11:3622402-3622403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200710547	chr11:3622403-3622404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201636325	chr11:3622445-3622446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191299082	chr11:3622472-3622473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199938535	chr11:3622479-3622480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201046451	chr11:3622492-3622493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202135719	chr11:3622505-3622506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12804169	chr11:3622509-3622510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs9735576	chr11:3622511-3622512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181239816	chr11:3622520-3622521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530407916	chr11:3622533-3622534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529137152	chr11:3622534-3622535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186939803	chr11:3622588-3622589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528713270	chr11:3622601-3622602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546796629	chr11:3622635-3622636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190620758	chr11:3622660-3622661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535619641	chr11:3622661-3622662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182861169	chr11:3622680-3622681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569193317	chr11:3622743-3622744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61878470	chr11:3622748-3622749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61878471	chr11:3622758-3622759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187926046	chr11:3622770-3622771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558158231	chr11:3622771-3622772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111855485	chr11:3622775-3622776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200549568	chr11:3622795-3622796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577215942	chr11:3622813-3622814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61878472	chr11:3622830-3622831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190890272	chr11:3622831-3622832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552933525	chr11:3622844-3622845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574573469	chr11:3622845-3622846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3606400-3635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:3625400-3625600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:3625400-3625600	Enhancers	Right Atrium	heart
4	chr11:3625400-3625800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:3625400-3625800	Enhancers	K562	blood
6	chr11:3625400-3626000	Enhancers	Fetal Intestine Small	intestine
7	chr11:3625400-3627400	Enhancers	Fetal Intestine Large	intestine
8	chr11:3625600-3626200	Enhancers	Duodenum Mucosa	Duodenum
9	chr11:3625600-3626200	Enhancers	Fetal Lung	lung
10	chr11:3625600-3627000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:3625600-3627000	Weak transcription	Right Atrium	heart
12	chr11:3625800-3626400	Flanking Active TSS	K562	blood
13	chr11:3626000-3626400	Weak transcription	Fetal Intestine Small	intestine
14	chr11:3626000-3629000	Enhancers	Placenta	Placenta
15	chr11:3626200-3627000	Active TSS	Duodenum Mucosa	Duodenum
16	chr11:3626400-3627200	Enhancers	K562	blood
17	chr11:3626400-3627400	Enhancers	Fetal Intestine Small	intestine

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