Variant report

Variant	nsv611410
Chromosome Location	chr8:58452850-58536334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:856)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:58499788-58500142	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:58462919-58463233	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:58492647-58493411	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:58476520-58477283	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:58500894-58501389	HepG2	liver:	n/a	n/a
6	ATF2	chr8:58492953-58493463	GM12878	blood:	n/a	n/a
7	BATF	chr8:58493059-58493347	GM12878	blood:	n/a	chr8:58493204-58493215
8	BCL11A	chr8:58510285-58510560	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr8:58476576-58477390	A549	lung:	n/a	n/a
10	BHLHE40	chr8:58500849-58501230	HepG2	liver:	n/a	n/a
11	CBX3	chr8:58510232-58510480	HCT-116	colon:	n/a	n/a
12	CBX3	chr8:58510249-58510452	K562	blood:	n/a	n/a
13	CEBPB	chr8:58500963-58501204	HepG2	liver:	n/a	n/a
14	CEBPB	chr8:58476582-58477291	HepG2	liver:	n/a	n/a
15	CEBPB	chr8:58476786-58477197	A549	lung:	n/a	n/a
16	CEBPB	chr8:58506312-58506591	A549	lung:	n/a	chr8:58506491-58506504 chr8:58506397-58506408
17	CEBPB	chr8:58514301-58514448	A549	lung:	n/a	n/a
18	CEBPB	chr8:58499731-58500732	MCF-7	breast:	n/a	chr8:58500451-58500464
19	CEBPB	chr8:58471381-58471619	IMR90	lung:	n/a	n/a
20	CEBPB	chr8:58500390-58500522	A549	lung:	n/a	chr8:58500451-58500464
21	CEBPB	chr8:58463011-58463359	HepG2	liver:	n/a	n/a
22	CEBPB	chr8:58500565-58500597	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr8:58472080-58472400	A549	lung:	n/a	n/a
24	CEBPB	chr8:58495747-58495758	K562	blood:	n/a	n/a
25	CEBPB	chr8:58500915-58501211	HepG2	liver:	n/a	n/a
26	CEBPB	chr8:58500276-58500614	HepG2	liver:	n/a	chr8:58500451-58500464
27	CEBPB	chr8:58518966-58519006	HepG2	liver:	n/a	n/a
28	CEBPB	chr8:58463050-58463218	HepG2	liver:	n/a	n/a
29	CEBPB	chr8:58471379-58471748	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr8:58499687-58500231	MCF-7	breast:	n/a	n/a
31	CEBPB	chr8:58506299-58506568	HepG2	liver:	n/a	chr8:58506491-58506504 chr8:58506397-58506408
32	CEBPB	chr8:58510239-58510577	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr8:58463015-58463318	MCF-7	breast:	n/a	n/a
34	CEBPB	chr8:58492944-58493340	HepG2	liver:	n/a	n/a
35	CEBPB	chr8:58471399-58471681	HepG2	liver:	n/a	n/a
36	CEBPB	chr8:58510291-58510461	MCF-7	breast:	n/a	n/a
37	CEBPB	chr8:58528410-58528618	HepG2	liver:	n/a	chr8:58528492-58528503
38	CEBPB	chr8:58476753-58477143	HCT-116	colon:	n/a	n/a
39	CEBPB	chr8:58528378-58528615	A549	lung:	n/a	chr8:58528492-58528503
40	CEBPB	chr8:58494550-58494740	HepG2	liver:	n/a	chr8:58494697-58494708
41	CEBPB	chr8:58476611-58477352	A549	lung:	n/a	n/a
42	CHD2	chr8:58499915-58500236	HepG2	liver:	n/a	n/a
43	CHD2	chr8:58500980-58501095	HepG2	liver:	n/a	n/a
44	CHD2	chr8:58510344-58510542	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr8:58492828-58493290	HepG2	liver:	n/a	n/a
46	CREB1	chr8:58492359-58492732	GM12878	blood:	n/a	n/a
47	CREB1	chr8:58462939-58463297	HepG2	liver:	n/a	n/a
48	CREB1	chr8:58493067-58493402	GM12878	blood:	n/a	n/a
49	CREB1	chr8:58492958-58493518	GM12878	blood:	n/a	n/a
50	CTCF	chr8:58489690-58490088	MCF-7	breast:	n/a	chr8:58489944-58489957

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:58458453..58461364-chr8:58462477..58464451,2	MCF-7	breast:
2	chr8:58489931..58492018-chr8:58907170..58909246,2	MCF-7	breast:
3	chr8:58512585..58515336-chr8:58516943..58518859,2	K562	blood:
4	chr8:58504798..58506738-chr8:58508959..58511696,2	MCF-7	breast:
5	chr8:58458453..58461364-chr8:58462477..58464451,2	MCF-7	breast:
6	chr8:58462603..58464504-chr8:58491631..58493379,2	K562	blood:
7	chr3:27395027..27395631-chr8:58500130..58500818,2	MCF-7	breast:
8	chr8:58504798..58506738-chr8:58508959..58511696,2	MCF-7	breast:
9	chr8:58499798..58502598-chr8:59323213..59325065,2	MCF-7	breast:
10	chr8:58460821..58463332-chr8:58465089..58467286,2	K562	blood:
11	chr8:58487534..58488381-chr8:59156649..59157508,2	MCF-7	breast:
12	chr8:58489820..58490346-chr8:59307522..59308461,2	MCF-7	breast:
13	chr8:58487590..58488096-chr8:59301318..59302266,2	MCF-7	breast:
14	chr8:58487606..58488471-chr8:58651601..58652426,3	MCF-7	breast:
15	chr8:58332657..58333329-chr8:58487609..58488171,2	MCF-7	breast:
16	chr8:58460821..58463332-chr8:58465089..58467286,2	K562	blood:
17	chr8:58512585..58515336-chr8:58516943..58518859,2	K562	blood:
18	chr4:139291348..139291947-chr8:58507526..58508108,2	MCF-7	breast:
19	chr8:58404877..58405459-chr8:58487377..58488213,3	MCF-7	breast:
20	chr8:58462603..58464504-chr8:58491631..58493379,2	K562	blood:
21	chr8:58489495..58490193-chr8:58651461..58652081,3	MCF-7	breast:
22	chr8:58489621..58490358-chr8:58651676..58652569,4	MCF-7	breast:
23	chr8:58487549..58488499-chr8:59307870..59308447,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM110B-4	chr8:58458028-58458502	ENSG00000253821
2	lnc-FAM110B-4	chr8:58504039-58504118	ENSG00000253821
3	lnc-FAM110B-4	chr8:58458029-58463564	NONHSAT126757
4	lnc-IMPAD1-2	chr8:58506725-58507021	ENSG00000253322

No data

Variant related genes	Relation type
RNU7-174P	TF binding region
ENSG00000253821	chromatin interactions
ENSG00000215114	chromatin interactions

Extended variants
information (count: 1884 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1884 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10092797	chr8:58452850-58452851	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532552120	chr8:58452889-58452890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536716559	chr8:58452911-58452912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553109326	chr8:58452943-58452944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573152311	chr8:58453166-58453167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545422631	chr8:58453173-58453174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115987566	chr8:58453184-58453185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575466335	chr8:58453210-58453211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544377089	chr8:58453219-58453220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111976062	chr8:58453232-58453233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529753444	chr8:58453276-58453277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546631161	chr8:58453277-58453278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151323693	chr8:58453294-58453295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532132320	chr8:58453313-58453314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552230715	chr8:58453335-58453336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546140604	chr8:58453347-58453348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563188016	chr8:58453366-58453367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62514285	chr8:58453406-58453407	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538069610	chr8:58453416-58453417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551509306	chr8:58453428-58453429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548426341	chr8:58453495-58453496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180975045	chr8:58453513-58453514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536754680	chr8:58453556-58453557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553386459	chr8:58453596-58453597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573195004	chr8:58453598-58453599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1470734	chr8:58453634-58453635	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552142240	chr8:58453648-58453649	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115692640	chr8:58453671-58453672	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577156143	chr8:58453729-58453730	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140199921	chr8:58453730-58453731	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1470733	chr8:58453749-58453750	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs57218765	chr8:58453764-58453765	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561155443	chr8:58453783-58453784	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374889958	chr8:58453795-58453796	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574644099	chr8:58453798-58453799	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185796950	chr8:58453852-58453853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570069430	chr8:58453858-58453859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560184407	chr8:58453868-58453869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs16922281	chr8:58453913-58453914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs73601560	chr8:58453941-58453942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562439403	chr8:58453967-58453968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7829714	chr8:58453970-58453971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192309447	chr8:58453973-58453974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55967471	chr8:58453993-58453994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs5891660	chr8:58453994-58453995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562211011	chr8:58453995-58453996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3048646	chr8:58454007-58454008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370292194	chr8:58454008-58454009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372815177	chr8:58454009-58454010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182094843	chr8:58454024-58454025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58448800-58461400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:58451600-58453800	Enhancers	Liver	Liver
3	chr8:58452200-58472200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:58452800-58453000	Enhancers	HSMMtube	muscle
5	chr8:58453000-58476400	Weak transcription	HSMMtube	muscle
6	chr8:58453200-58455000	Weak transcription	Fetal Kidney	kidney
7	chr8:58453400-58453600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:58453600-58453800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:58453800-58456400	Weak transcription	Liver	Liver
10	chr8:58453800-58462600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:58455000-58455200	Enhancers	Fetal Kidney	kidney
12	chr8:58455200-58456800	Weak transcription	Fetal Kidney	kidney
13	chr8:58456400-58457000	Enhancers	Liver	Liver
14	chr8:58456800-58457000	Enhancers	Fetal Kidney	kidney
15	chr8:58456800-58457600	Enhancers	A549	lung
16	chr8:58457000-58457200	Flanking Active TSS	Liver	Liver
17	chr8:58457000-58457400	Weak transcription	Fetal Kidney	kidney
18	chr8:58457000-58457400	Enhancers	HepG2	liver
19	chr8:58457200-58457400	Enhancers	Liver	Liver
20	chr8:58457400-58457600	Flanking Active TSS	Liver	Liver
21	chr8:58457400-58457600	Enhancers	Fetal Kidney	kidney
22	chr8:58457400-58458000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr8:58457400-58462600	Weak transcription	HepG2	liver
24	chr8:58457600-58461200	Enhancers	Liver	Liver
25	chr8:58457600-58463600	Weak transcription	A549	lung
26	chr8:58457600-58464600	Weak transcription	Fetal Kidney	kidney
27	chr8:58458000-58460200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:58458800-58460000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:58458800-58462000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:58458800-58462000	Enhancers	NHDF-Ad	bronchial
31	chr8:58459000-58459200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:58459200-58463400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:58460000-58460400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:58460200-58462200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr8:58460400-58461600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:58461000-58461600	Enhancers	HSMM	muscle
37	chr8:58461200-58466600	Weak transcription	Liver	Liver
38	chr8:58461400-58462000	Enhancers	Rectal Smooth Muscle	rectum
39	chr8:58461600-58463800	Weak transcription	HSMM	muscle
40	chr8:58462000-58471600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:58462200-58463600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr8:58462600-58463200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:58462600-58464400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:58462600-58464600	Enhancers	HepG2	liver
45	chr8:58463000-58463800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr8:58463000-58464400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:58463400-58463600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr8:58463400-58464200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:58463600-58465000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr8:58463600-58465200	Enhancers	A549	lung

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