Variant report

Variant	nsv971649
Chromosome Location	chr8:48068796-48078922
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	CBX3	chr8:48078812-48079474	HCT-116	colon:	n/a	n/a
2	CEBPB	chr8:48068594-48068897	HepG2	liver:	n/a	n/a
3	CEBPB	chr8:48068657-48068852	A549	lung:	n/a	n/a
4	CEBPB	chr8:48068628-48068812	IMR90	lung:	n/a	n/a
5	CTCF	chr8:48078865-48078896	GM10248	blood:	n/a	n/a
6	CTCF	chr8:48078620-48078770	GM12868	blood:	n/a	n/a
7	CTCF	chr8:48078600-48078750	AG09319	gingival:	n/a	n/a
8	CTCF	chr8:48078866-48079352	K562	blood:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
9	CTCF	chr8:48078520-48078670	GM12871	blood:	n/a	n/a
10	CTCF	chr8:48078912-48079325	ECC-1	luminal epithelium:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
11	CTCF	chr8:48078894-48079326	Gliobla	brain:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
12	CTCF	chr8:48078881-48079450	MCF-7	breast:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
13	CTCF	chr8:48078589-48079570	A549	lung:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
14	CTCF	chr8:48078760-48078910	AG09309	skin:	n/a	n/a
15	CTCF	chr8:48078340-48078490	GM12871	blood:	n/a	n/a
16	CTCF	chr8:48078500-48078650	GM12873	blood:	n/a	n/a
17	CTCF	chr8:48078620-48078770	HMF	breast:	n/a	n/a
18	CTCF	chr8:48075830-48075946	GM10248	blood:	n/a	n/a
19	CTCF	chr8:48078800-48078950	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr8:48078823-48079589	SK-N-SH	brain:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
21	CTCF	chr8:48078816-48079433	HCT-116	colon:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
22	CTCF	chr8:48078911-48079311	GM19238	blood:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
23	CTCF	chr8:48078876-48079384	T-47D	breast:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
24	CTCF	chr8:48078540-48078690	HCFaa	heart:	n/a	n/a
25	CTCF	chr8:48078893-48079302	Fibrobl	skin:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
26	CTCF	chr8:48078911-48079317	K562	blood:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
27	CTCF	chr8:48078600-48078750	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr8:48075844-48075946	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr8:48078580-48078730	GM12872	blood:	n/a	n/a
30	CTCF	chr8:48078916-48079352	K562	blood:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
31	CTCF	chr8:48078895-48079388	MCF-7	breast:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
32	CTCF	chr8:48078600-48078750	GM12865	blood:	n/a	n/a
33	CTCF	chr8:48078915-48079293	HepG2	liver:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
34	FOXA2	chr8:48070049-48070666	A549	lung:	n/a	n/a
35	FOXA2	chr8:48070045-48070552	A549	lung:	n/a	n/a
36	HDAC2	chr8:48078876-48079270	MCF-7	breast:	n/a	chr8:48078887-48078901 chr8:48078953-48078972
37	HEY1	chr8:48069145-48069444	K562	blood:	n/a	n/a
38	MAX	chr8:48078717-48079449	HCT-116	colon:	n/a	n/a
39	MAX	chr8:48078894-48079285	K562	blood:	n/a	n/a
40	MAX	chr8:48078777-48079395	MCF-7	breast:	n/a	n/a
41	MAX	chr8:48078876-48079284	ECC-1	luminal epithelium:	n/a	n/a
42	MAX	chr8:48078895-48079416	HCT-116	colon:	n/a	n/a
43	MAX	chr8:48078829-48079457	A549	lung:	n/a	n/a
44	MAZ	chr8:48078902-48079055	HepG2	liver:	n/a	n/a
45	MYC	chr8:48078921-48079314	MCF-7	breast:	n/a	n/a
46	MYC	chr8:48078900-48079351	MCF-7	breast:	n/a	n/a
47	MYC	chr8:48069133-48069242	MCF-7	breast:	n/a	n/a
48	PAX5	chr8:48078892-48079383	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:48069044-48069453	GM12878	blood:	n/a	n/a
50	POLR2A	chr8:48069181-48069319	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:47868355..47869368-chr8:48078653..48079520,3	MCF-7	breast:
2	chr8:48078768..48081017-chr8:48097820..48099416,2	MCF-7	breast:
3	chr8:48078537..48080562-chr8:48085847..48088452,2	MCF-7	breast:
4	chr8:48078161..48080655-chr8:48649461..48651455,2	MCF-7	breast:
5	chr8:48077834..48080111-chr8:48648682..48651633,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1134I14.8.1-4	chr8:48076493-48076730	NONHSAT126433
2	lnc-RP11-1134I14.8.1-4	chr8:48077043-48077147	NONHSAT126433

Variant related genes	Relation type
NDUFA5P12	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563605539	chr8:48075831-48075832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs188262097	chr8:48075865-48075866	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs532453497	chr8:48075873-48075874	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs549777017	chr8:48075879-48075880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs200913912	chr8:48075884-48075885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs200915381	chr8:48075895-48075896	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs201559398	chr8:48075906-48075907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs529030193	chr8:48075930-48075931	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs553154262	chr8:48076211-48076212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs189388389	chr8:48076212-48076213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs11778776	chr8:48076227-48076228	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556104531	chr8:48076245-48076246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs563519894	chr8:48076250-48076251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs201548808	chr8:48076256-48076257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575568271	chr8:48076259-48076260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572664205	chr8:48076361-48076362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs542947362	chr8:48076427-48076428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs561726578	chr8:48076438-48076439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs562128567	chr8:48076441-48076442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs547485147	chr8:48076443-48076444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs529521590	chr8:48076456-48076457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs533035858	chr8:48076457-48076458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs551634421	chr8:48076462-48076463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs56014031	chr8:48076465-48076466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569854298	chr8:48076466-48076467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62538858	chr8:48076468-48076469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs541286736	chr8:48076476-48076477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530884803	chr8:48076483-48076484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs548963481	chr8:48076496-48076497	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs558356415	chr8:48076522-48076523	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs181795191	chr8:48076554-48076555	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs553455725	chr8:48076556-48076557	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs184352174	chr8:48076618-48076619	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs538731523	chr8:48076662-48076663	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs557173091	chr8:48076675-48076676	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs188776351	chr8:48076686-48076687	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs554929117	chr8:48076711-48076712	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs11783221	chr8:48076744-48076745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145577613	chr8:48076745-48076746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67343059	chr8:48076751-48076752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59611741	chr8:48076757-48076758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200611911	chr8:48076758-48076759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540695926	chr8:48076762-48076763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143592656	chr8:48076763-48076764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376709929	chr8:48076767-48076768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545124503	chr8:48076771-48076772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201651871	chr8:48076832-48076833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544297387	chr8:48076846-48076847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545920897	chr8:48076884-48076885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563479610	chr8:48076900-48076901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48076200-48076600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr8:48076600-48078800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:48078800-48079000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:48078800-48079200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr8:48078800-48079200	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:48078800-48079200	Enhancers	Liver	Liver
7	chr8:48078800-48079200	Active TSS	Colonic Mucosa	Colon
8	chr8:48078800-48079200	Active TSS	Duodenum Mucosa	Duodenum
9	chr8:48078800-48079200	Active TSS	Fetal Intestine Large	intestine
10	chr8:48078800-48079200	Enhancers	Gastric	stomach
11	chr8:48078800-48079200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr8:48078800-48079200	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr8:48078800-48079200	Active TSS	A549	lung
14	chr8:48078800-48079200	Active TSS	Hela-S3	cervix

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