Variant report

Variant	nsv972568
Chromosome Location	chr8:114210926-114214463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:114214112..114215316-chr8:114390224..114391492,6	MCF-7	breast:
2	chr8:113773910..113774788-chr8:114210759..114211408,2	MCF-7	breast:

Extended variants
information (count: 122 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576352911	chr8:114210955-114210956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188741616	chr8:114210962-114210963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72687630	chr8:114210971-114210972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527597922	chr8:114211037-114211038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541291076	chr8:114211077-114211078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28522408	chr8:114211093-114211094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs180778867	chr8:114211103-114211104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376970620	chr8:114211104-114211105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138658818	chr8:114211113-114211114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569407216	chr8:114211149-114211150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567063783	chr8:114211173-114211174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184371375	chr8:114211216-114211217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575465371	chr8:114211317-114211318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568288581	chr8:114211342-114211343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534231412	chr8:114211364-114211365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190484389	chr8:114211375-114211376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570798617	chr8:114211379-114211380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539817420	chr8:114211382-114211383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13262942	chr8:114211385-114211386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556724224	chr8:114211389-114211390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544192111	chr8:114211392-114211393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142713702	chr8:114211446-114211447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555620638	chr8:114211527-114211528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6992044	chr8:114211531-114211532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537558662	chr8:114211598-114211599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182074214	chr8:114211637-114211638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564393878	chr8:114211721-114211722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577610261	chr8:114211777-114211778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186372437	chr8:114211802-114211803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562912882	chr8:114211817-114211818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190426404	chr8:114211839-114211840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549705414	chr8:114211869-114211870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571178848	chr8:114211897-114211898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552848072	chr8:114211902-114211903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540096582	chr8:114211904-114211905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558193655	chr8:114211910-114211911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566286941	chr8:114211914-114211915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561957794	chr8:114211935-114211936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527877432	chr8:114211978-114211979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181584815	chr8:114212046-114212047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571104027	chr8:114212047-114212048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539484639	chr8:114212068-114212069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570365999	chr8:114212080-114212081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550213937	chr8:114212084-114212085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73346381	chr8:114212168-114212169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535956236	chr8:114212174-114212175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149497845	chr8:114212206-114212207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185349073	chr8:114212216-114212217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534810221	chr8:114212218-114212219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144046571	chr8:114212251-114212252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
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
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114206000-114213000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:114212400-114214200	Enhancers	Brain Germinal Matrix	brain
3	chr8:114212400-114214600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:114212800-114214600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:114213000-114213600	Enhancers	Brain Hippocampus Middle	brain
6	chr8:114213000-114214600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:114213000-114214600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:114213000-114214600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:114213000-114214600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:114213400-114214600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:114213600-114214000	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:114214000-114214200	Enhancers	Brain Hippocampus Middle	brain
13	chr8:114214200-114214600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:114214200-114214600	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr8:114214400-114215000	Enhancers	Brain Substantia Nigra	brain

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