Variant report

Variant	nsv972921
Chromosome Location	chr11:41818848-41850913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:41837647-41837674	GM20000	blood:	n/a	n/a
2	E2F4	chr11:41820675-41820809	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr11:41822786-41822980	SH-SY5Y	brain:	n/a	n/a
4	IRF1	chr11:41839252-41839262	K562	blood:	n/a	n/a
5	MAFK	chr11:41829912-41830155	HepG2	liver:	n/a	n/a
6	MAZ	chr11:41822151-41822191	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:41820939-41820947	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:41830567-41830666	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:41820084-41820089	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:41834821-41834898	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:41839375-41839499	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:41833490-41834127	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:41822699-41822802	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:41822414-41822519	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:41836602-41836673	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:41823373-41823573	MCF10A-Er-Src	breast:	n/a	n/a
17	SETDB1	chr11:41835576-41835974	U2OS	brain:	n/a	n/a
18	STAT3	chr11:41825568-41825624	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr11:41824236-41824405	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr11:41832021-41832282	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr11:41844411-41844447	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:41822866..41824596-chr11:41828045..41830066,2	K562	blood:
2	chr11:41822866..41824596-chr11:41828045..41830066,2	K562	blood:
3	chr11:41847500..41849671-chr11:41851438..41853773,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-API5-5	chr11:41842843-41842943	NONHSAT018895
2	lnc-API5-5	chr11:41830517-41830633	NONHSAT018895
3	lnc-API5-5	chr11:41842843-41842943	ENSG00000255171.1
4	lnc-API5-5	chr11:41842843-41842943	XLOC_009112
5	lnc-API5-5	chr11:41847701-41847827	NONHSAT018895
6	lnc-API5-5	chr11:41847701-41847827	ENSG00000255171.1
7	lnc-API5-5	chr11:41830600-41830633	XLOC_009112
8	lnc-API5-5	chr11:41842843-41842943	ENSG00000255171.1
9	lnc-API5-5	chr11:41830517-41830633	ENSG00000255171.1
10	lnc-API5-5	chr11:41847701-41847772	ENSG00000255171.1
11	lnc-API5-10	chr11:41819093-41819514	NONHSAT018894
12	lnc-API5-5	chr11:41847701-41847827	XLOC_009112

No data

Variant related genes	Relation type
ENSG00000254668	TF binding region

Extended variants
information (count: 523 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567324455	chr11:41819109-41819110	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs189676218	chr11:41819125-41819126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs72470874	chr11:41819134-41819135	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs398097498	chr11:41819140-41819141	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs12285434	chr11:41819147-41819148	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575341271	chr11:41819185-41819186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs542345650	chr11:41819222-41819223	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs532315708	chr11:41819325-41819326	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs79028250	chr11:41819330-41819331	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs114445399	chr11:41819352-41819353	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs565247820	chr11:41819367-41819368	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs532619726	chr11:41819379-41819380	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs142291934	chr11:41819399-41819400	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs562930032	chr11:41819409-41819410	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs151242422	chr11:41819477-41819478	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs373507798	chr11:41819528-41819529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1385379	chr11:41819536-41819537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568767884	chr11:41819544-41819545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140432887	chr11:41819546-41819547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182688327	chr11:41819551-41819552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188148288	chr11:41819579-41819580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373954743	chr11:41819593-41819594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2862305	chr11:41819646-41819647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554915416	chr11:41819651-41819652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544371943	chr11:41819652-41819653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568484022	chr11:41819683-41819684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538927708	chr11:41819764-41819765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534279284	chr11:41819765-41819766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145905080	chr11:41819776-41819777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs57081046	chr11:41819789-41819790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536419138	chr11:41819807-41819808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201815074	chr11:41819825-41819826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4756671	chr11:41819828-41819829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572564192	chr11:41819940-41819941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539847709	chr11:41819960-41819961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191642576	chr11:41819967-41819968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10837728	chr11:41820006-41820007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544487756	chr11:41820019-41820020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11036563	chr11:41820034-41820035	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs530250404	chr11:41820104-41820105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138457568	chr11:41820117-41820118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560390992	chr11:41820140-41820141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183594432	chr11:41820158-41820159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552645819	chr11:41820180-41820181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10768743	chr11:41820200-41820201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532476502	chr11:41820228-41820229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543878538	chr11:41820229-41820230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368301877	chr11:41820247-41820248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141352591	chr11:41820256-41820257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188967621	chr11:41820275-41820276	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
WAGR syndrome	19222835	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	21829676	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cancer	20164919	CNVD
Gastric cancer	18160780	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:41819200-41822000	Enhancers	Fetal Intestine Small	intestine
2	chr11:41820400-41822200	Enhancers	Fetal Intestine Large	intestine
3	chr11:41821000-41822000	Enhancers	Duodenum Mucosa	Duodenum
4	chr11:41821200-41822000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr11:41822000-41825800	Weak transcription	Fetal Intestine Small	intestine
6	chr11:41825800-41826000	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr11:41834800-41835400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:41838400-41839000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:41843000-41843600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:41843200-41843600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:41843200-41843800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:41847400-41848400	Enhancers	Fetal Intestine Small	intestine
13	chr11:41847400-41849200	Enhancers	Fetal Intestine Large	intestine

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