Variant report

Variant	nsv521944
Chromosome Location	chr8:111709802-111713158
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	chr8:111712144..111713669-chr8:111724852..111727560,2	MCF-7	breast:
2	chr12:43241796..43242729-chr8:111709968..111710717,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1494240	chr8:111709802-111709803	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569998899	chr8:111709836-111709837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193299315	chr8:111709843-111709844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555645001	chr8:111709882-111709883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1494241	chr8:111709909-111709910	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561848768	chr8:111709920-111709921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375306676	chr8:111709921-111709922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11397465	chr8:111709936-111709937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185460716	chr8:111709977-111709978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557569931	chr8:111710011-111710012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145113245	chr8:111710024-111710025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147569534	chr8:111710081-111710082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200964641	chr8:111710091-111710092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141956354	chr8:111710092-111710093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574023909	chr8:111710097-111710098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542913459	chr8:111710131-111710132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116078652	chr8:111710149-111710150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528690153	chr8:111710158-111710159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545538648	chr8:111710189-111710190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149862573	chr8:111710199-111710200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117270956	chr8:111710200-111710201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551019521	chr8:111710209-111710210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561260932	chr8:111710218-111710219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145844348	chr8:111710227-111710228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549307446	chr8:111710433-111710434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565918221	chr8:111710525-111710526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534538496	chr8:111710526-111710527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377181268	chr8:111710528-111710529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571290007	chr8:111710537-111710538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148981957	chr8:111710538-111710539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113509646	chr8:111710556-111710557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556587139	chr8:111710595-111710596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535890866	chr8:111710596-111710597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535807694	chr8:111710626-111710627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369959562	chr8:111710783-111710784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553396010	chr8:111710811-111710812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555484780	chr8:111710813-111710814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189582727	chr8:111710820-111710821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575847491	chr8:111710844-111710845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566310377	chr8:111710893-111710894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545304939	chr8:111710902-111710903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533674481	chr8:111710946-111710947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565453914	chr8:111710964-111710965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575852429	chr8:111710997-111710998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557090920	chr8:111711015-111711016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180730904	chr8:111711169-111711170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143748597	chr8:111711194-111711195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs118134080	chr8:111711195-111711196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530120471	chr8:111711196-111711197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10112109	chr8:111711197-111711198	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:94)

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
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
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
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111709000-111711000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:111709400-111710200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr8:111709400-111710400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:111709400-111710400	Enhancers	HMEC	breast
5	chr8:111709400-111710400	Enhancers	NHEK	skin
6	chr8:111709400-111711400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:111709600-111710200	Enhancers	NH-A	brain
8	chr8:111709600-111710400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:111709600-111710400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:111709800-111710000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:111709800-111710000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:111710400-111711200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:111711200-111711400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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