Variant report

Variant	nsv523096
Chromosome Location	chr8:103490914-103498788
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103492910..103494676-chr8:103666572..103668916,2	MCF-7	breast:
2	chr8:103491067..103493841-chr8:103494872..103496600,2	MCF-7	breast:
3	chr8:103493877..103496382-chr8:103496950..103498666,2	K562	blood:
4	chr8:103495758..103497650-chr8:103613429..103615117,2	MCF-7	breast:
5	chr8:103498577..103501085-chr8:103501776..103504428,3	MCF-7	breast:
6	chr8:103491067..103493841-chr8:103494872..103496600,2	MCF-7	breast:
7	chr8:103493877..103496382-chr8:103496950..103498666,2	K562	blood:
8	chr8:103495118..103497591-chr8:103502414..103504461,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBR5-6	chr8:103492155-103492788	expReg_chr8_5555_-

No data

Variant related genes	Relation type
ENSG00000155090	chromatin interactions

Extended variants
information (count: 344 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7010489	chr8:103490914-103490915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs80118918	chr8:103490926-103490927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181924930	chr8:103490935-103490936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572283085	chr8:103490966-103490967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78556125	chr8:103490975-103490976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542622882	chr8:103491028-103491029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547521586	chr8:103491113-103491114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564115215	chr8:103491134-103491135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148985239	chr8:103491157-103491158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186150564	chr8:103491170-103491171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138722507	chr8:103491174-103491175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561768527	chr8:103491197-103491198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188271688	chr8:103491226-103491227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547688583	chr8:103491233-103491234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566348966	chr8:103491241-103491242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78365876	chr8:103491358-103491359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533485529	chr8:103491382-103491383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551358889	chr8:103491451-103491452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569756644	chr8:103491462-103491463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537060710	chr8:103491513-103491514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180787506	chr8:103491531-103491532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186737263	chr8:103491587-103491588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76957961	chr8:103491590-103491591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571752788	chr8:103491591-103491592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553710102	chr8:103491597-103491598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572299922	chr8:103491617-103491618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191178745	chr8:103491629-103491630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79881028	chr8:103491649-103491650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570973773	chr8:103491677-103491678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183054402	chr8:103491691-103491692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186780980	chr8:103491748-103491749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7824853	chr8:103491763-103491764	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529015176	chr8:103491774-103491775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56392440	chr8:103491834-103491835	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183459539	chr8:103491835-103491836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7818743	chr8:103491864-103491865	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551620814	chr8:103491890-103491891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114882934	chr8:103491935-103491936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368456913	chr8:103491942-103491943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74525019	chr8:103492004-103492005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541009097	chr8:103492010-103492011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567944213	chr8:103492014-103492015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567725439	chr8:103492038-103492039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552725176	chr8:103492052-103492053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547558693	chr8:103492066-103492067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374298674	chr8:103492067-103492068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187803926	chr8:103492116-103492117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558055913	chr8:103492149-103492150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576419996	chr8:103492236-103492237	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs537026912	chr8:103492239-103492240	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Autism	22495309	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103489600-103491000	Enhancers	Hela-S3	cervix
2	chr8:103490000-103491000	Enhancers	K562	blood
3	chr8:103490000-103491400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:103490800-103491000	Enhancers	Pancreas	Pancrea
5	chr8:103490800-103491000	Enhancers	Psoas Muscle	Psoas
6	chr8:103490800-103491600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:103490800-103491600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:103490800-103491800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:103491000-103491600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:103491000-103491800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr8:103491000-103492000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:103491000-103496600	Weak transcription	Psoas Muscle	Psoas
13	chr8:103491200-103491600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:103491400-103491800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:103491400-103492400	Enhancers	HepG2	liver
16	chr8:103491400-103493000	Weak transcription	Pancreas	Pancrea
17	chr8:103491600-103491800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:103491800-103502600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:103493000-103493400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:103493000-103493400	Enhancers	Pancreas	Pancrea
21	chr8:103494400-103497000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr8:103494600-103496800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:103495800-103496600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:103496000-103496400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:103496000-103496400	Enhancers	HSMMtube	muscle
26	chr8:103496200-103496600	Enhancers	Left Ventricle	heart
27	chr8:103496600-103496800	Enhancers	Psoas Muscle	Psoas
28	chr8:103496800-103499600	Weak transcription	Psoas Muscle	Psoas
29	chr8:103497000-103503600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:103498600-103502200	Enhancers	Placenta	Placenta

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