Variant report

Variant	nsv1029189
Chromosome Location	chr8:58336604-58409288
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	ATF2	chr8:58390674-58391022	GM12878	blood:	n/a	n/a
2	BACH1	chr8:58354912-58354914	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:58379190-58379193	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr8:58347415-58347430	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr8:58390691-58391025	GM12878	blood:	n/a	n/a
6	BATF	chr8:58375749-58376012	GM12878	blood:	n/a	n/a
7	BATF	chr8:58390640-58391020	GM12878	blood:	n/a	n/a
8	BATF	chr8:58360119-58360363	GM12878	blood:	n/a	n/a
9	BATF	chr8:58375688-58376050	GM12878	blood:	n/a	n/a
10	CEBPB	chr8:58354140-58354200	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr8:58354842-58355038	K562	blood:	n/a	n/a
12	CEBPB	chr8:58368798-58369019	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr8:58369419-58369621	HepG2	liver:	n/a	n/a
14	CEBPB	chr8:58365526-58365804	K562	blood:	n/a	chr8:58365647-58365658
15	CEBPB	chr8:58365525-58365815	HepG2	liver:	n/a	chr8:58365647-58365658
16	CEBPB	chr8:58361798-58362049	HepG2	liver:	n/a	chr8:58361892-58361903
17	CEBPB	chr8:58365514-58365823	IMR90	lung:	n/a	chr8:58365647-58365658
18	CEBPB	chr8:58361836-58362055	A549	lung:	n/a	chr8:58361892-58361903
19	CEBPB	chr8:58354859-58355001	A549	lung:	n/a	n/a
20	CEBPB	chr8:58354024-58354259	A549	lung:	n/a	n/a
21	CEBPB	chr8:58369326-58369583	A549	lung:	n/a	n/a
22	CREB1	chr8:58403815-58404217	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr8:58403970-58404158	SK-N-SH_RA	brain:	n/a	chr8:58404054-58404075
24	CTCF	chr8:58403964-58404118	GM19238	blood:	n/a	chr8:58404054-58404075
25	CTCF	chr8:58403875-58404156	SK-N-SH_RA	brain:	n/a	chr8:58404054-58404075
26	CTCF	chr8:58405212-58405383	HepG2	liver:	n/a	n/a
27	CTCF	chr8:58403980-58404130	HPF	lung:	n/a	chr8:58404054-58404075
28	CTCF	chr8:58403920-58404070	GM12874	blood:	n/a	n/a
29	CTCF	chr8:58403945-58404182	MCF-7	breast:	n/a	chr8:58404054-58404075
30	CTCF	chr8:58403980-58404130	HA-sp	spinal cord:	n/a	chr8:58404054-58404075
31	CTCF	chr8:58403960-58404110	AG04450	lung:	n/a	chr8:58404054-58404075
32	CTCF	chr8:58403827-58404327	MCF-7	breast:	n/a	chr8:58404054-58404075
33	CTCF	chr8:58403940-58404090	SAEC	small airway:	n/a	chr8:58404054-58404075
34	CTCF	chr8:58405140-58405290	AG09319	gingival:	n/a	n/a
35	CTCF	chr8:58403960-58404110	HepG2	liver:	n/a	chr8:58404054-58404075
36	CTCF	chr8:58403980-58404130	NHDF-neo	bronchial:	n/a	chr8:58404054-58404075
37	CTCF	chr8:58405205-58405449	MCF-7	breast:	n/a	n/a
38	CTCF	chr8:58403960-58404110	HCM	heart:	n/a	chr8:58404054-58404075
39	CTCF	chr8:58405240-58405390	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr8:58404040-58404190	NHLF	lung:	n/a	chr8:58404054-58404075
41	CTCF	chr8:58403968-58404148	IMR90	lung:	n/a	chr8:58404054-58404075
42	CTCF	chr8:58386589-58386624	LNCaP	prostate:	n/a	n/a
43	CTCF	chr8:58403980-58404130	HCPEpiC	choroid plexus:	n/a	chr8:58404054-58404075
44	CTCF	chr8:58405240-58405390	MCF-7	breast:	n/a	n/a
45	CTCF	chr8:58405220-58405370	NHLF	lung:	n/a	n/a
46	CTCF	chr8:58403653-58404308	SK-N-SH	brain:	n/a	chr8:58404054-58404075
47	CTCF	chr8:58338360-58338510	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr8:58403960-58404110	GM12873	blood:	n/a	chr8:58404054-58404075
49	CTCF	chr8:58404000-58404150	HBMEC	blood vessel:	n/a	chr8:58404054-58404075
50	CTCF	chr8:58404000-58404150	HPAF	blood vessel:	n/a	chr8:58404054-58404075

No.	Distal block	Cell Line	Cell type
1	chr8:58332821..58333771-chr8:58403706..58404764,4	MCF-7	breast:
2	chr8:58332707..58333926-chr8:58403565..58404649,11	MCF-7	breast:
3	chr8:58334906..58335645-chr8:58403623..58404511,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM110B-4	chr8:58405426-58405506	NONHSAT126755
2	lnc-FAM110B-11	chr8:58348579-58351315	l_3603_chr8:58348578-58353048_testes
3	lnc-FAM110B-4	chr8:58405458-58405534	ENSG00000253821
4	lnc-FAM110B-4	chr8:58405443-58405534	ENSG00000253821
5	lnc-FAM110B-4	chr8:58375466-58375636	XLOC_006808
6	lnc-FAM110B-4	chr8:58405402-58405534	NONHSAT126757
7	lnc-FAM110B-4	chr8:58375465-58375636	NONHSAT126755
8	lnc-FAM110B-4	chr8:58405427-58405506	XLOC_006808
9	lnc-FAM110B-11	chr8:58352607-58353048	l_3603_chr8:58348578-58353048_testes

Variant related genes	Relation type
ENSG00000253821	TF binding region

Extended variants
information (count: 2152 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2152 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10086935	chr8:58336604-58336605	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10100230	chr8:58336670-58336671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184695374	chr8:58336688-58336689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189093315	chr8:58336701-58336702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558412883	chr8:58336748-58336749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534184972	chr8:58336841-58336842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80314044	chr8:58336855-58336856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376603828	chr8:58336856-58336857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77203650	chr8:58336862-58336863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80055223	chr8:58336863-58336864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369766165	chr8:58336903-58336904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556259623	chr8:58336932-58336933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113485963	chr8:58336947-58336948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543798528	chr8:58336951-58336952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112559684	chr8:58337041-58337042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114799445	chr8:58337048-58337049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572379416	chr8:58337049-58337050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541278101	chr8:58337069-58337070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181477526	chr8:58337094-58337095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144386450	chr8:58337099-58337100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549692472	chr8:58337110-58337111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376131989	chr8:58337112-58337113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531704379	chr8:58337144-58337145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185572018	chr8:58337155-58337156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147414007	chr8:58337159-58337160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374556245	chr8:58337173-58337174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528000012	chr8:58337210-58337211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189924734	chr8:58337221-58337222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570795152	chr8:58337225-58337226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181142437	chr8:58337226-58337227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10101274	chr8:58337280-58337281	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs13251134	chr8:58337296-58337297	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs186105664	chr8:58337324-58337325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574802960	chr8:58337325-58337326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535161906	chr8:58337410-58337411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16922151	chr8:58337425-58337426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs375142729	chr8:58337435-58337436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115898843	chr8:58337436-58337437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541350727	chr8:58337452-58337453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560289757	chr8:58337455-58337456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558116988	chr8:58337457-58337458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148472957	chr8:58337459-58337460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190776349	chr8:58337478-58337479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563300017	chr8:58337543-58337544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373282876	chr8:58337546-58337547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377246858	chr8:58337547-58337548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541896030	chr8:58337573-58337574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114078085	chr8:58337606-58337607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532244838	chr8:58337611-58337612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562698619	chr8:58337624-58337625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58333600-58337800	Weak transcription	Fetal Heart	heart
2	chr8:58334200-58336800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:58335600-58337000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr8:58335600-58337000	Enhancers	Liver	Liver
5	chr8:58335800-58336800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:58335800-58336800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:58336600-58337000	Enhancers	HSMM	muscle
8	chr8:58336800-58337000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:58336800-58337000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr8:58336800-58337400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:58337800-58338000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:58337800-58338600	Enhancers	Fetal Heart	heart
13	chr8:58338600-58341600	Weak transcription	Fetal Heart	heart
14	chr8:58341000-58343600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:58341600-58341800	Flanking Active TSS	Fetal Heart	heart
16	chr8:58341800-58342000	Active TSS	Fetal Heart	heart
17	chr8:58350400-58352400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr8:58351000-58352200	Enhancers	Liver	Liver
19	chr8:58351400-58351600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:58351800-58353000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr8:58352400-58352800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr8:58352800-58353600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr8:58353000-58364400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr8:58353200-58354200	Enhancers	Fetal Lung	lung
25	chr8:58353400-58354000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:58353400-58354600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:58353400-58354800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:58353600-58354000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr8:58354000-58354200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr8:58354200-58354800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr8:58354800-58355400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr8:58354800-58356400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr8:58354800-58359800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr8:58355200-58355400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr8:58356400-58357000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr8:58357000-58357600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr8:58357600-58358400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr8:58358400-58360400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr8:58359200-58359600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:58359800-58362200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr8:58360000-58361000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:58360000-58361200	Enhancers	GM12878-XiMat	blood
43	chr8:58360400-58361000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr8:58360600-58361000	Enhancers	Primary B cells from cord blood	blood
45	chr8:58360600-58361000	Enhancers	Spleen	Spleen
46	chr8:58361000-58361400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr8:58361000-58362400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:58361200-58361600	Weak transcription	GM12878-XiMat	blood
49	chr8:58361400-58361800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr8:58361600-58362000	Enhancers	GM12878-XiMat	blood

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