Variant report

Variant	nsv528523
Chromosome Location	chr8:19546696-19555398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19534245..19536815-chr8:19550846..19553257,2	MCF-7	breast:
2	chr8:19552184..19554316-chr8:19556580..19558198,2	MCF-7	breast:
3	chr8:19547135..19548866-chr8:19674484..19677442,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INTS10-2	chr8:19546235-19547041	NONHSAT125382

Variant related genes	Relation type
ENSG00000104613	chromatin interactions
ENSG00000253270	chromatin interactions

Extended variants
information (count: 416 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56924736	chr8:19546696-19546697	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs536944081	chr8:19546720-19546721	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs371475371	chr8:19546723-19546724	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs11991750	chr8:19546729-19546730	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs181938521	chr8:19546736-19546737	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs576536204	chr8:19546771-19546772	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs187089196	chr8:19546796-19546797	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs73216641	chr8:19546841-19546842	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546999133	chr8:19546843-19546844	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs192370518	chr8:19546844-19546845	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs572191875	chr8:19546858-19546859	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs181992648	chr8:19546872-19546873	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs145414514	chr8:19546880-19546881	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs529953526	chr8:19546913-19546914	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs533003140	chr8:19546922-19546923	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs543654722	chr8:19546923-19546924	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs563359093	chr8:19546927-19546928	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs532311415	chr8:19546943-19546944	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs552382723	chr8:19546990-19546991	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs147411077	chr8:19547001-19547002	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs139616268	chr8:19547063-19547064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551411931	chr8:19547064-19547065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548249780	chr8:19547065-19547066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568009772	chr8:19547074-19547075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184994583	chr8:19547093-19547094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145302151	chr8:19547094-19547095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570170992	chr8:19547127-19547128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538881924	chr8:19547148-19547149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145084020	chr8:19547158-19547159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189904672	chr8:19547177-19547178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570060933	chr8:19547215-19547216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541085399	chr8:19547266-19547267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs4922086	chr8:19547283-19547284	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs182499532	chr8:19547296-19547297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs6989904	chr8:19547307-19547308	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186565077	chr8:19547317-19547318	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532424017	chr8:19547319-19547320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs546064911	chr8:19547326-19547327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369309449	chr8:19547332-19547333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs35614420	chr8:19547353-19547354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369372330	chr8:19547400-19547401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146064689	chr8:19547442-19547443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs369414631	chr8:19547446-19547447	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149046021	chr8:19547489-19547490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548224546	chr8:19547515-19547516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs74364466	chr8:19547526-19547527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372916129	chr8:19547533-19547534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191462900	chr8:19547535-19547536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs4922087	chr8:19547541-19547542	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs538945976	chr8:19547568-19547569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19539400-19552000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:19539600-19548200	Weak transcription	Brain Anterior Caudate	brain
3	chr8:19540200-19548000	Weak transcription	Hela-S3	cervix
4	chr8:19540400-19549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:19540600-19548400	Weak transcription	Gastric	stomach
6	chr8:19540800-19548400	Weak transcription	Ovary	ovary
7	chr8:19540800-19548600	Weak transcription	Right Ventricle	heart
8	chr8:19540800-19550400	Weak transcription	Lung	lung
9	chr8:19540800-19550400	Weak transcription	Spleen	Spleen
10	chr8:19541000-19554200	Weak transcription	Brain Substantia Nigra	brain
11	chr8:19541000-19567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:19542200-19549000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:19542400-19551000	Weak transcription	Fetal Brain Male	brain
14	chr8:19543000-19548400	Weak transcription	Left Ventricle	heart
15	chr8:19543400-19548600	Weak transcription	Placenta	Placenta
16	chr8:19544200-19548000	Weak transcription	Primary B cells from cord blood	blood
17	chr8:19544200-19548400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:19544200-19548600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:19544400-19548600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr8:19544400-19550200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:19544600-19548200	Weak transcription	Pancreas	Pancrea
22	chr8:19544800-19548200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:19545000-19549800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:19545200-19548200	Weak transcription	A549	lung
25	chr8:19545600-19549800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:19545800-19546800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:19545800-19549600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:19545800-19549800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:19545800-19550200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:19546000-19550000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:19546000-19550200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:19546200-19550800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:19546400-19549000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:19546400-19550200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:19546600-19548200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:19546600-19549800	Weak transcription	Primary T cells from cord blood	blood
37	chr8:19546800-19547000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:19547000-19548600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:19548000-19549600	Enhancers	Primary B cells from cord blood	blood
40	chr8:19548000-19550000	Enhancers	Hela-S3	cervix
41	chr8:19548200-19548800	Enhancers	A549	lung
42	chr8:19548200-19549200	Enhancers	Brain Anterior Caudate	brain
43	chr8:19548200-19551600	Enhancers	Pancreas	Pancrea
44	chr8:19548200-19553800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr8:19548200-19559200	Enhancers	Primary B cells from peripheral blood	blood
46	chr8:19548400-19548600	Enhancers	Stomach Mucosa	stomach
47	chr8:19548400-19549400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr8:19548400-19549400	Enhancers	Gastric	stomach
49	chr8:19548400-19549600	Enhancers	Left Ventricle	heart
50	chr8:19548400-19549600	Enhancers	Ovary	ovary

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