Variant report

Variant	nsv1015626
Chromosome Location	chr8:108011245-108057385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107858278..107858789-chr8:108024820..108025365,2	MCF-7	breast:
2	chr1:38477248..38478946-chr8:108022853..108025135,2	MCF-7	breast:
3	chr8:108046046..108048588-chr8:108049288..108050905,2	K562	blood:
4	chr8:108046046..108048588-chr8:108049288..108050905,2	K562	blood:

Variant related genes	Relation type
ENSG00000183520	chromatin interactions

Extended variants
information (count: 555 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550202924	chr8:108011316-108011317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2927094	chr8:108011369-108011370	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs535827366	chr8:108011389-108011390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529146519	chr8:108011399-108011400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139748019	chr8:108011436-108011437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11985867	chr8:108011442-108011443	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144532943	chr8:108011444-108011445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369679205	chr8:108011445-108011446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557815135	chr8:108011465-108011466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181693583	chr8:108011481-108011482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34223953	chr8:108011488-108011489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113466796	chr8:108011506-108011507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556632676	chr8:108011613-108011614	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs536748266	chr8:108011644-108011645	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs186044904	chr8:108011645-108011646	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs566569439	chr8:108011646-108011647	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs535714996	chr8:108011679-108011680	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs542026881	chr8:108011705-108011706	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs73699687	chr8:108011724-108011725	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs34615941	chr8:108011725-108011726	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555290700	chr8:108011737-108011738	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs564586800	chr8:108011768-108011769	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs367561522	chr8:108011778-108011779	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs575048226	chr8:108011830-108011831	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs531647810	chr8:108011836-108011837	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs190511779	chr8:108011849-108011850	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs561974337	chr8:108011850-108011851	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs371551631	chr8:108011856-108011857	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs3019958	chr8:108011886-108011887	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538485860	chr8:108011912-108011913	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs367651819	chr8:108011913-108011914	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs149194751	chr8:108011959-108011960	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs143265286	chr8:108011961-108011962	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs183003090	chr8:108011967-108011968	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs151273556	chr8:108012001-108012002	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs10101809	chr8:108012065-108012066	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs569730715	chr8:108012131-108012132	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs544010289	chr8:108012141-108012142	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs186326257	chr8:108012143-108012144	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs568428258	chr8:108012154-108012155	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs558696068	chr8:108012244-108012245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202101900	chr8:108012247-108012248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76528272	chr8:108012268-108012269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140520946	chr8:108012288-108012289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368468109	chr8:108012293-108012294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147032452	chr8:108012306-108012307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138315957	chr8:108012326-108012327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190937214	chr8:108012335-108012336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558014117	chr8:108012337-108012338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142855252	chr8:108012338-108012339	Enhancers	n/a	n/a	Overlapped CNVs	n/a

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
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
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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108005400-108011600	Weak transcription	Aorta	Aorta
2	chr8:108011000-108013600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:108011600-108012200	ZNF genes & repeats	Aorta	Aorta
4	chr8:108011600-108013000	Enhancers	Adipose Nuclei	Adipose
5	chr8:108012400-108013000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:108012400-108014200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:108012600-108012800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:108012600-108013400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:108012800-108019200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:108013000-108013400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:108013400-108013800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:108024800-108025200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:108032800-108033600	Enhancers	Ovary	ovary
14	chr8:108033000-108033400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:108036400-108036800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:108037400-108038400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:108040800-108042000	ZNF genes & repeats	Aorta	Aorta

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