Variant report

Variant	nsv972572
Chromosome Location	chr8:118137966-118144506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr8:118141984-118142059	K562	blood:	n/a	n/a
2	POLR2A	chr8:118139149-118139177	A549	lung:	n/a	n/a
3	POLR2A	chr8:118139088-118139194	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr8:118141306-118141386	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118137952..118140134-chr8:118149845..118153085,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf85-1	chr8:118140694-118140801	ENSG00000253622.1
2	lnc-C8orf85-1	chr8:118142150-118142538	ENSG00000253622.1

No data

Variant related genes	Relation type
ENSG00000253622	TF binding region
SLC30A8	TF binding region

Extended variants
information (count: 255 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561020456	chr8:118137985-118137986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148730780	chr8:118137997-118137998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193198006	chr8:118138004-118138005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574599493	chr8:118138006-118138007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16889435	chr8:118138007-118138008	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529962331	chr8:118138154-118138155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548097746	chr8:118138188-118138189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184579675	chr8:118138200-118138201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563433325	chr8:118138206-118138207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375469351	chr8:118138207-118138208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530626457	chr8:118138213-118138214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112610037	chr8:118138222-118138223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188889294	chr8:118138241-118138242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150874707	chr8:118138270-118138271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567956656	chr8:118138277-118138278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191852801	chr8:118138279-118138280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545431267	chr8:118138280-118138281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140227923	chr8:118138283-118138284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117633488	chr8:118138298-118138299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554298597	chr8:118138364-118138365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527932837	chr8:118138387-118138388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10505313	chr8:118138389-118138390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575860497	chr8:118138400-118138401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572696894	chr8:118138410-118138411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540084145	chr8:118138440-118138441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557960023	chr8:118138632-118138633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184038593	chr8:118138633-118138634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189596203	chr8:118138643-118138644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540074962	chr8:118138677-118138678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562082762	chr8:118138681-118138682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573710525	chr8:118138690-118138691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541679799	chr8:118138695-118138696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145637393	chr8:118138704-118138705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147318109	chr8:118138707-118138708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530618672	chr8:118138731-118138732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552391514	chr8:118138738-118138739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180841698	chr8:118138759-118138760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112145579	chr8:118138784-118138785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577088566	chr8:118138785-118138786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562359098	chr8:118138788-118138789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529772715	chr8:118138792-118138793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71305460	chr8:118138817-118138818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60461956	chr8:118138825-118138826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57441824	chr8:118138828-118138829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528217703	chr8:118138888-118138889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188253083	chr8:118138966-118138967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374192497	chr8:118139027-118139028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546401286	chr8:118139033-118139034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191604513	chr8:118139054-118139055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560331352	chr8:118139071-118139072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

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
Acute lymphoblastic leukemia	22237106	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
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118137800-118138000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:118138000-118138200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr8:118138200-118139000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:118138600-118142200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:118139000-118139200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr8:118139200-118140800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:118140800-118142200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr8:118142200-118142600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:118142200-118142600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:118142200-118142600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:118142400-118142600	Enhancers	Psoas Muscle	Psoas
12	chr8:118142600-118143000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr8:118143000-118144400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:118144400-118144800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:118144400-118145200	Enhancers	Pancreatic Islets	Pancreatic Islet

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