Variant report

Variant	nsv831430
Chromosome Location	chr8:115691127-115846073
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	BCL11A	chr8:115767366-115767591	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr8:115724487-115724843	Hela-S3	cervix:	n/a	n/a
3	BRCA1	chr8:115711955-115711959	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr8:115711062-115711262	A549	lung:	n/a	chr8:115711094-115711105 chr8:115711127-115711138
5	CEBPB	chr8:115806592-115806911	HepG2	liver:	n/a	chr8:115806752-115806763
6	CEBPB	chr8:115710155-115711305	Hela-S3	cervix:	n/a	chr8:115711094-115711105 chr8:115711127-115711138 chr8:115710617-115710630 chr8:115710695-115710708
7	CEBPB	chr8:115711027-115711229	HepG2	liver:	n/a	chr8:115711094-115711105 chr8:115711127-115711138
8	CEBPB	chr8:115801680-115802019	IMR90	lung:	n/a	chr8:115801845-115801858 chr8:115801846-115801857
9	CEBPB	chr8:115711023-115711292	K562	blood:	n/a	chr8:115711094-115711105 chr8:115711127-115711138
10	CEBPB	chr8:115771793-115772094	HepG2	liver:	n/a	chr8:115771949-115771960 chr8:115771948-115771961 chr8:115771948-115771961 chr8:115771948-115771959
11	CEBPB	chr8:115815905-115816234	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr8:115801676-115801988	A549	lung:	n/a	chr8:115801845-115801858 chr8:115801846-115801857
13	CEBPB	chr8:115819009-115819518	Hela-S3	cervix:	n/a	chr8:115819130-115819143
14	CEBPB	chr8:115769435-115769648	HepG2	liver:	n/a	chr8:115769548-115769559
15	CEBPB	chr8:115724466-115725118	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr8:115801538-115802040	Hela-S3	cervix:	n/a	chr8:115801845-115801858 chr8:115801846-115801857
17	CEBPB	chr8:115801665-115802010	HepG2	liver:	n/a	chr8:115801845-115801858 chr8:115801846-115801857
18	CTCF	chr8:115694931-115694959	A549	lung:	n/a	n/a
19	CTCF	chr8:115801500-115801650	HCFaa	heart:	n/a	n/a
20	CTCF	chr8:115806820-115806970	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr8:115801480-115801630	HMF	breast:	n/a	n/a
22	CTCF	chr8:115703811-115703840	LNCaP	prostate:	n/a	n/a
23	CTCF	chr8:115801520-115801670	GM12872	blood:	n/a	n/a
24	CTCF	chr8:115801486-115801701	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr8:115801440-115801590	BE2_C	brain:	n/a	n/a
26	CTCF	chr8:115801540-115801690	HMEC	breast:	n/a	n/a
27	CTCF	chr8:115801580-115801730	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr8:115801580-115801730	HVMF	connective:	n/a	n/a
29	CTCF	chr8:115801520-115801670	HMEC	breast:	n/a	n/a
30	CTCF	chr8:115806920-115807070	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr8:115842854-115842923	Medullo	brain:	n/a	n/a
32	CTCF	chr8:115801406-115801798	MCF-7	breast:	n/a	n/a
33	CTCF	chr8:115743855-115743933	GM20000	blood:	n/a	n/a
34	CTCF	chr8:115728598-115728642	LNCaP	prostate:	n/a	n/a
35	CTCF	chr8:115694924-115694970	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr8:115801740-115801890	BE2_C	brain:	n/a	n/a
37	CTCF	chr8:115801500-115801650	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr8:115801506-115801691	LNCaP	prostate:	n/a	n/a
39	CTCF	chr8:115801540-115801690	AG04449	skin:	n/a	n/a
40	CTCF	chr8:115801540-115801690	HEK293	kidney:	n/a	n/a
41	CTCF	chr8:115801500-115801650	BE2_C	brain:	n/a	n/a
42	CTCF	chr8:115801540-115801690	AG09319	gingival:	n/a	n/a
43	CTCF	chr8:115801560-115801710	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr8:115801560-115801710	HPF	lung:	n/a	n/a
45	CTCF	chr8:115801520-115801670	NHEK	skin:	n/a	n/a
46	CTCF	chr8:115801760-115801910	AG04449	skin:	n/a	n/a
47	CTCF	chr8:115801540-115801690	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr8:115801488-115801675	LNCaP	prostate:	n/a	n/a
49	CTCF	chr8:115801500-115801650	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr8:115694857-115695048	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:115690493..115692779-chr8:115729828..115731998,2	K562	blood:
2	chr8:115801565..115802207-chr8:116111087..116111614,2	MCF-7	breast:
3	chr8:115777295..115780044-chr8:115780292..115782239,2	MCF-7	breast:
4	chr8:115841518..115843650-chr8:115845521..115848142,3	MCF-7	breast:
5	chr8:115690493..115692779-chr8:115729828..115731998,2	K562	blood:
6	chr8:115466661..115467320-chr8:115801108..115801704,2	MCF-7	breast:
7	chr8:115802194..115804445-chr8:115804783..115806582,2	MCF-7	breast:
8	chr8:115777295..115780044-chr8:115780292..115782239,2	MCF-7	breast:
9	chr8:115841518..115843650-chr8:115845521..115848142,3	MCF-7	breast:
10	chr7:120719872..120722285-chr8:115706379..115707879,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRPS1-3	chr8:115803882-115804158	NONHSAT128360

Variant related genes	Relation type
ENSG00000253756	TF binding region
ENSG00000253756	chromatin interactions

Extended variants
information (count: 1719 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1719 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143848115	chr8:115691162-115691163	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138524422	chr8:115691173-115691174	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542102951	chr8:115691180-115691181	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555665540	chr8:115691181-115691182	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191566287	chr8:115691185-115691186	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147263994	chr8:115691186-115691187	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545905842	chr8:115691213-115691214	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200159035	chr8:115691236-115691237	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183822463	chr8:115691248-115691249	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78269541	chr8:115691271-115691272	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188416352	chr8:115691277-115691278	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139776555	chr8:115691354-115691355	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191243857	chr8:115691357-115691358	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562305610	chr8:115691362-115691363	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529590086	chr8:115691405-115691406	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565540727	chr8:115691462-115691463	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530806834	chr8:115691472-115691473	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569566867	chr8:115691477-115691478	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534569596	chr8:115691500-115691501	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537016360	chr8:115691510-115691511	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77118546	chr8:115691513-115691514	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570520441	chr8:115691654-115691655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534698030	chr8:115691691-115691692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552937675	chr8:115691695-115691696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112143070	chr8:115691701-115691702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149813507	chr8:115691740-115691741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145834876	chr8:115691809-115691810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575255602	chr8:115691810-115691811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545754150	chr8:115691898-115691899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557724594	chr8:115691922-115691923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550639307	chr8:115691943-115691944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573050094	chr8:115691979-115691980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554717275	chr8:115692041-115692042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574554479	chr8:115692061-115692062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1378170	chr8:115692099-115692100	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs114676994	chr8:115692173-115692174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529456442	chr8:115692203-115692204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544600805	chr8:115692207-115692208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563151147	chr8:115692270-115692271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115698710	chr8:115692288-115692289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552242443	chr8:115692289-115692290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182758213	chr8:115692337-115692338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570458644	chr8:115692364-115692365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117823792	chr8:115692399-115692400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148584756	chr8:115692400-115692401	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs577652693	chr8:115692457-115692458	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs546657508	chr8:115692567-115692568	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs186664608	chr8:115692596-115692597	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs372077039	chr8:115692611-115692612	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs12541353	chr8:115692675-115692676	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Glioblastoma multiforme	21080181	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115689600-115692400	Enhancers	Dnd41	blood
2	chr8:115690800-115691400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:115691000-115691400	Enhancers	Colon Smooth Muscle	Colon
4	chr8:115691000-115691600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:115691200-115691600	Enhancers	Adipose Nuclei	Adipose
6	chr8:115691400-115692600	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:115691400-115692600	Enhancers	Fetal Stomach	stomach
8	chr8:115691400-115692800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:115691600-115692000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:115692400-115693000	Flanking Active TSS	Dnd41	blood
11	chr8:115692600-115693600	Enhancers	Colon Smooth Muscle	Colon
12	chr8:115693000-115694400	Enhancers	Dnd41	blood
13	chr8:115693800-115694800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:115694400-115695000	ZNF genes & repeats	Aorta	Aorta
15	chr8:115694400-115695000	ZNF genes & repeats	Dnd41	blood
16	chr8:115694600-115694800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:115694600-115695000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:115694800-115695000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:115694800-115695000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:115694800-115695000	ZNF genes & repeats	Lung	lung
21	chr8:115724600-115725800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:115724800-115725200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:115724800-115725600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:115725000-115726400	Enhancers	Hela-S3	cervix
25	chr8:115725600-115729600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:115729200-115730200	Enhancers	Dnd41	blood
27	chr8:115729600-115730200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:115730200-115732400	Weak transcription	Dnd41	blood
29	chr8:115732400-115732600	Enhancers	Dnd41	blood
30	chr8:115736000-115738200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:115740600-115741800	Enhancers	Dnd41	blood
32	chr8:115758200-115758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:115758600-115758800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:115758800-115767200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:115761800-115762000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr8:115767200-115767600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:115767200-115768000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:115767400-115767800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:115768600-115769200	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr8:115778600-115779200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:115778800-115779400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:115779000-115779800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:115779200-115779600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:115779600-115779800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:115780000-115780600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:115781000-115781200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:115784000-115784400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr8:115796000-115797200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:115796400-115797600	Enhancers	Dnd41	blood
50	chr8:115797600-115801200	Weak transcription	Dnd41	blood

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