Variant report

Variant	nsv933516
Chromosome Location	chr8:118764605-119009093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:71)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118973542..118975877-chr8:118984534..118987052,2	K562	blood:
2	chr8:118818062..118819741-chr8:118823694..118825347,2	K562	blood:
3	chr8:118783908..118785429-chr8:118806603..118808878,2	K562	blood:
4	chr8:118901302..118903490-chr8:119123908..119125633,2	MCF-7	breast:
5	chr8:118999516..119001908-chr8:119020694..119023645,2	MCF-7	breast:
6	chr8:118862311..118864605-chr8:119122547..119125521,2	MCF-7	breast:
7	chr8:118855769..118857808-chr8:118858590..118860796,2	MCF-7	breast:
8	chr8:118998954..119002808-chr8:119123412..119126433,4	MCF-7	breast:
9	chr8:118890541..118892939-chr8:119125383..119127926,2	MCF-7	breast:
10	chr8:118930438..118932126-chr8:119123387..119125000,2	MCF-7	breast:
11	chr8:118828866..118831812-chr8:118836316..118838725,2	K562	blood:
12	8:118988958-118993290..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo
13	8:118854388-118858307..8:119119523-119124860	GM12878	blood:
14	chr8:118973542..118975877-chr8:118984534..118987052,2	K562	blood:
15	chr20:55787745..55789841-chr8:118882698..118885084,2	MCF-7	breast:
16	chr8:118845996..118847669-chr8:119122945..119125594,2	MCF-7	breast:
17	chr8:118929621..118931886-chr8:118940149..118942806,2	MCF-7	breast:
18	chr8:118885737..118888335-chr8:119123241..119125842,2	MCF-7	breast:
19	chr8:118906865..118908986-chr8:118910823..118912929,2	MCF-7	breast:
20	chr8:118990513..118994843-chr8:118997898..119000699,3	MCF-7	breast:
21	8:118823602-118831545..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo
22	chr8:118896207..118897097-chr8:119132804..119133487,2	MCF-7	breast:
23	chr8:119005711..119007230-chr8:119009334..119011314,2	MCF-7	breast:
24	chr8:118968228..118970713-chr8:118979031..118981216,2	MCF-7	breast:
25	chr8:118828866..118831812-chr8:118836316..118838725,2	K562	blood:
26	chr8:118928857..118930921-chr8:118936919..118939329,2	MCF-7	breast:
27	chr4:10173856..10175564-chr8:118809117..118811670,2	MCF-7	breast:
28	chr8:118874293..118875149-chr8:119132498..119133544,7	MCF-7	breast:
29	chr8:118874257..118874880-chr8:118929262..118930077,2	MCF-7	breast:
30	chr8:118954460..118956663-chr8:118958753..118960778,2	MCF-7	breast:
31	chr8:118897210..118898934-chr8:119121979..119124377,2	MCF-7	breast:
32	chr8:118896198..118897114-chr8:119037614..119038165,2	MCF-7	breast:
33	chr8:118818062..118819741-chr8:118823694..118825347,2	K562	blood:
34	chr8:118783908..118785429-chr8:118806603..118808878,2	K562	blood:
35	chr8:118976562..118978924-chr8:118986229..118989159,2	MCF-7	breast:
36	chr8:118895392..118899100-chr8:119122968..119125162,4	MCF-7	breast:
37	chr5:37569124..37569718-chr8:118852447..118853416,2	MCF-7	breast:
38	chr8:118990517..118992059-chr8:119122818..119125739,2	MCF-7	breast:
39	chr8:118875517..118876420-chr8:119426479..119427389,2	MCF-7	breast:
40	chr8:118928857..118930921-chr8:118936919..118939329,2	MCF-7	breast:
41	chr8:118924992..118927722-chr8:118950419..118952468,2	MCF-7	breast:
42	chr8:118949865..118951415-chr8:118972031..118973609,2	MCF-7	breast:
43	chr8:118855769..118857808-chr8:118858590..118860796,2	MCF-7	breast:
44	chr8:119000472..119003306-chr8:119019524..119021773,2	MCF-7	breast:
45	chr8:119004216..119005864-chr8:119006227..119009143,2	MCF-7	breast:
46	chr8:118924992..118927722-chr8:118950419..118952468,2	MCF-7	breast:
47	8:118911988-118922970..8:119208477-119211356	GM12878	blood:
48	chr8:118962356..118964780-chr8:118967876..118970039,2	K562	blood:
49	chr8:118906865..118908986-chr8:118910823..118912929,2	MCF-7	breast:
50	chr8:118875539..118876407-chr8:119132500..119133350,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182197	chromatin interactions

Extended variants
information (count: 9430 )
Associated
traits (count: 148 )

Variant overlapped rSNPs/rCNVs (count:9430 , 50 per page) page: 1 2 3 4 5 6 7 ... 189

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151303465	chr8:118764620-118764621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564311641	chr8:118764662-118764663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs741922	chr8:118764706-118764707	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs16890156	chr8:118764726-118764727	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79710007	chr8:118764759-118764760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371449670	chr8:118764772-118764773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528116482	chr8:118764819-118764820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546275587	chr8:118764847-118764848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560879818	chr8:118764881-118764882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114776184	chr8:118764950-118764951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182047288	chr8:118764983-118764984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374051802	chr8:118765042-118765043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376114049	chr8:118765046-118765047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558444970	chr8:118765055-118765056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187843664	chr8:118765078-118765079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551431154	chr8:118765112-118765113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570847480	chr8:118765165-118765166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7831724	chr8:118765215-118765216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553477384	chr8:118765230-118765231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192474232	chr8:118765232-118765233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535634686	chr8:118765288-118765289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140640667	chr8:118765310-118765311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575797841	chr8:118765340-118765341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560549201	chr8:118765360-118765361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546469547	chr8:118765365-118765366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144533092	chr8:118765371-118765372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572484710	chr8:118765427-118765428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183222698	chr8:118765489-118765490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146626097	chr8:118765537-118765538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116115925	chr8:118765559-118765560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544026076	chr8:118765672-118765673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562700290	chr8:118765677-118765678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550725793	chr8:118765687-118765688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533019791	chr8:118765733-118765734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551685131	chr8:118765739-118765740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188104633	chr8:118765846-118765847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2136105	chr8:118765849-118765850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566799564	chr8:118765922-118765923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114804808	chr8:118765963-118765964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116961330	chr8:118766033-118766034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368756025	chr8:118766166-118766167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531739791	chr8:118766186-118766187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535942283	chr8:118766268-118766269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557217052	chr8:118766357-118766358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569420561	chr8:118766384-118766385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150082278	chr8:118766398-118766399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551759331	chr8:118766427-118766428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558003249	chr8:118766451-118766452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112172433	chr8:118766483-118766484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374516716	chr8:118766570-118766571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:148)

Disease	PMID	Source
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
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Ovarian cancer	17440070	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
Glioma	20126413	CNVD

Chromatin state (count:6572 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118744200-118769200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:118751400-118805400	Weak transcription	NHLF	lung
3	chr8:118752400-118765000	Weak transcription	Osteobl	bone
4	chr8:118760400-118767800	Weak transcription	Fetal Lung	lung
5	chr8:118764200-118765200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:118764200-118765400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr8:118764200-118765400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:118764200-118765400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:118764200-118765400	Enhancers	Fetal Muscle Leg	muscle
10	chr8:118764400-118765200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:118764400-118765200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:118764400-118765400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:118764400-118765400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:118764600-118765000	Enhancers	Aorta	Aorta
15	chr8:118764600-118765200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:118764600-118765400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr8:118764600-118765400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:118764600-118765400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:118764600-118765400	Enhancers	Fetal Muscle Trunk	muscle
20	chr8:118764800-118765000	Weak transcription	HSMM	muscle
21	chr8:118764800-118765200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr8:118765000-118765200	Enhancers	HSMM	muscle
23	chr8:118765000-118765400	Enhancers	Osteobl	bone
24	chr8:118765000-118780200	Weak transcription	Aorta	Aorta
25	chr8:118765200-118765400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:118765200-118775800	Weak transcription	HSMM	muscle
27	chr8:118765400-118775600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:118765400-118783600	Weak transcription	Osteobl	bone
29	chr8:118766400-118767200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:118767200-118768200	Enhancers	HepG2	liver
31	chr8:118767400-118767600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:118767800-118768000	Enhancers	Fetal Lung	lung
33	chr8:118767800-118783400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:118768400-118773200	Weak transcription	Ovary	ovary
35	chr8:118769200-118770000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:118770000-118780600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:118773600-118773800	Enhancers	Ovary	ovary
38	chr8:118775000-118776000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr8:118775400-118780400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:118775600-118778000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:118775800-118776400	Enhancers	HSMM	muscle
42	chr8:118775800-118777800	Enhancers	NHDF-Ad	bronchial
43	chr8:118776200-118776600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:118776400-118780800	Weak transcription	HSMM	muscle
45	chr8:118777800-118802200	Weak transcription	NHDF-Ad	bronchial
46	chr8:118779800-118801200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:118780200-118780400	ZNF genes & repeats	Aorta	Aorta
48	chr8:118780600-118781400	ZNF genes & repeats	Aorta	Aorta
49	chr8:118780600-118782000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:118780800-118781400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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