Variant report

Variant	nsv319
Chromosome Location	chr11:49123918-49144093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:49131188-49131388	A549	lung:	n/a	n/a
2	CTCF	chr11:49130096-49130142	GM10248	blood:	n/a	n/a
3	CTCF	chr11:49127919-49127961	MCF-7	breast:	n/a	n/a
4	CTCF	chr11:49139804-49139861	Lung_OC	lung:	n/a	n/a
5	CTCF	chr11:49137381-49137434	Medullo	brain:	n/a	n/a
6	IRF1	chr11:49130334-49130412	K562	blood:	n/a	n/a
7	IRF1	chr11:49135164-49135242	K562	blood:	n/a	n/a
8	MYC	chr11:49124021-49124247	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:49127932-49127984	MCF-7	breast:	n/a	n/a
10	POLR2A	chr11:49141685-49141719	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:49140989-49141130	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:49133713-49133722	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:49133784-49133829	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:49129233-49129339	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:49134331-49134433	GM12878	blood:	n/a	n/a
16	RFX5	chr11:49132119-49132285	K562	blood:	n/a	n/a
17	SPI1	chr11:49127518-49127640	K562	blood:	n/a	n/a
18	SPI1	chr11:49127531-49127652	K562	blood:	n/a	n/a
19	STAT3	chr11:49133253-49133598	MCF10A-Er-Src	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49124791-49124841	HIPEpiC	eye:	n/a
2	chr11:49124111-49124161	T-47D	breast:	n/a
3	chr11:49128127-49128177	HEEpiC	esophagus:	n/a
4	chr11:49123970-49124020	HEEpiC	esophagus:	n/a
5	chr11:49128127-49128177	BJ	skin:	n/a
6	chr11:49128127-49128177	AG09309	skin:	n/a
7	chr11:49124111-49124161	NB4	blood:	n/a
8	chr11:49128127-49128177	GM19239	blood:	n/a
9	chr11:49124090-49124140	SK-N-SH	brain:	n/a
10	chr11:49123970-49124020	AG04450	lung:	fetal
11	chr11:49123970-49124020	SK-N-SH	brain:	n/a
12	chr11:49124111-49124161	AG09319	gingival:	n/a
13	chr11:49128127-49128177	LNCaP	prostate:	n/a
14	chr11:49124791-49124841	HCM	heart:	n/a
15	chr11:49128127-49128177	SK-N-SH_RA	brain:	n/a
16	chr11:49128127-49128177	HUVEC	blood vessel:	n/a
17	chr11:49124111-49124161	HRCEpiC	kidney:	n/a
18	chr11:49124791-49124841	SAEC	small airway:	n/a
19	chr11:49124791-49124841	PANC-1	pancreas:	n/a
20	chr11:49124791-49124841	SK-N-MC	brain:	n/a
21	chr11:49124791-49124841	T-47D	breast:	n/a
22	chr11:49128127-49128177	H1-hESC	embryonic stem cell:	embryo
23	chr11:49123970-49124020	RPTEC	kidney:	n/a
24	chr11:49123970-49124020	HAEpiC	amniotic membrane:	n/a
25	chr11:49124090-49124140	HMEC	breast:	n/a
26	chr11:49123970-49124020	T-47D	breast:	n/a
27	chr11:49124791-49124841	NH-A	brain:	n/a
28	chr11:49128127-49128177	AoSMC	blood vessel:	n/a
29	chr11:49123970-49124020	Hepatocyte	liver:	n/a
30	chr11:49124090-49124140	AG10803	skin:	n/a
31	chr11:49123970-49124020	AG10803	skin:	n/a
32	chr11:49123970-49124020	Caco-2	colon:	n/a
33	chr11:49124111-49124161	HL-60	blood:	n/a
34	chr11:49124111-49124161	HEK293	kidney:	embryo
35	chr11:49124090-49124140	A549	lung:	n/a
36	chr11:49124791-49124841	HRCEpiC	kidney:	n/a
37	chr11:49124791-49124841	U87	brain:	n/a
38	chr11:49124090-49124140	NHBE	bronchial:	n/a
39	chr11:49124791-49124841	GM12878	blood:	n/a
40	chr11:49124111-49124161	HEEpiC	esophagus:	n/a
41	chr11:49124090-49124140	H1-hESC	embryonic stem cell:	embryo
42	chr11:49124111-49124161	AG04450	lung:	fetal
43	chr11:49123970-49124020	AG04449	skin:	fetal
44	chr11:49123970-49124020	AG09309	skin:	n/a
45	chr11:49124791-49124841	ProgFib	skin:	n/a
46	chr11:49124090-49124140	HCT-116	colon:	n/a
47	chr11:49124090-49124140	NHDF-neo	bronchial:	n/a
48	chr11:49124791-49124841	HEEpiC	esophagus:	n/a
49	chr11:49124791-49124841	Jurkat	blood:	n/a
50	chr11:49124090-49124140	SK-N-SH_RA	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-3	chr11:49132308-49132772	NONHSAT021309

No data

Variant related genes	Relation type
ENSG00000254412	TF binding region
ENSG00000255338	TF binding region
ENSG00000254412	CpG island
ENSG00000255338	CpG island

Extended variants
information (count: 70 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7944183	chr11:49123972-49123973	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574296533	chr11:49124002-49124003	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs376977492	chr11:49124009-49124010	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs553539660	chr11:49124026-49124027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs553064492	chr11:49124043-49124044	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs573193431	chr11:49124048-49124049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs371063640	chr11:49124055-49124056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs187527355	chr11:49124093-49124094	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs573514889	chr11:49124129-49124130	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs545120275	chr11:49124135-49124136	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs564998255	chr11:49124160-49124161	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs7122999	chr11:49124182-49124183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs7944746	chr11:49124200-49124201	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs193242941	chr11:49124226-49124227	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs144884632	chr11:49124818-49124819	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs573450397	chr11:49124824-49124825	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs2866146	chr11:49124830-49124831	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2866147	chr11:49124831-49124832	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs558660851	chr11:49124840-49124841	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs372319952	chr11:49127518-49127519	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs12283808	chr11:49127553-49127554	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539863361	chr11:49127556-49127557	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs559987744	chr11:49127580-49127581	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs2026125	chr11:49127586-49127587	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs61885223	chr11:49127603-49127604	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs116719063	chr11:49127635-49127636	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs72906344	chr11:49128134-49128135	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs368067587	chr11:49129255-49129256	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs3076053	chr11:49129256-49129257	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs549951749	chr11:49129272-49129273	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs546178239	chr11:49129274-49129275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs397838697	chr11:49129276-49129277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs60372605	chr11:49129277-49129278	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs1976966	chr11:49129279-49129280	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs66927573	chr11:49129280-49129281	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs375982444	chr11:49129313-49129314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs546161960	chr11:49129328-49129329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs550920946	chr11:49130105-49130106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs567088608	chr11:49130352-49130353	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs569788203	chr11:49130373-49130374	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs71049333	chr11:49130381-49130382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs80075213	chr11:49130391-49130392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs544224231	chr11:49131199-49131200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs140384729	chr11:49131301-49131302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs551370908	chr11:49132120-49132121	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs11040256	chr11:49132131-49132132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs369253962	chr11:49132157-49132158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs571593812	chr11:49132192-49132193	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs185040746	chr11:49132208-49132209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs114450293	chr11:49132209-49132210	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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