Variant report

Variant	nsv512020
Chromosome Location	chr8:1745630-1747738
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	chr8:1745622..1748028-chr8:1770752..1773401,2	K562	blood:
2	chr8:1708066..1710813-chr8:1745165..1747310,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104728	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377436683	chr8:1745638-1745639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570074444	chr8:1745651-1745652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538961300	chr8:1745677-1745678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117019948	chr8:1745696-1745697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370235610	chr8:1745721-1745722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6558538	chr8:1745764-1745765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs535235230	chr8:1745779-1745780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs116327607	chr8:1745820-1745821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79538558	chr8:1745840-1745841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528324113	chr8:1745866-1745867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs76340455	chr8:1745902-1745903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576815965	chr8:1745937-1745938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567874274	chr8:1745954-1745955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545753821	chr8:1745992-1745993	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183117229	chr8:1746022-1746023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550460515	chr8:1746072-1746073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528248205	chr8:1746076-1746077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548409849	chr8:1746185-1746186	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371234050	chr8:1746187-1746188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs67050836	chr8:1746188-1746189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs199521460	chr8:1746192-1746193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7830981	chr8:1746193-1746194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
23	rs5888911	chr8:1746215-1746216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201077921	chr8:1746216-1746217	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530210443	chr8:1746223-1746224	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550346210	chr8:1746231-1746232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111946791	chr8:1746243-1746244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539057076	chr8:1746299-1746300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552560010	chr8:1746341-1746342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201078555	chr8:1746358-1746359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs5888912	chr8:1746393-1746394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201889354	chr8:1746395-1746396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs138685580	chr8:1746396-1746397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7462693	chr8:1746410-1746411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs111071428	chr8:1746463-1746464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs6558539	chr8:1746466-1746467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190663292	chr8:1746468-1746469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs6558540	chr8:1746474-1746475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111984114	chr8:1746492-1746493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs6986745	chr8:1746510-1746511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7004076	chr8:1746511-1746512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536742845	chr8:1746516-1746517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111879076	chr8:1746538-1746539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112260627	chr8:1746543-1746544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201789979	chr8:1746544-1746545	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557044977	chr8:1746620-1746621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs576732785	chr8:1746636-1746637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs59689141	chr8:1746654-1746655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs112173206	chr8:1746691-1746692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545808228	chr8:1746732-1746733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	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
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1736400-1747800	Weak transcription	Ovary	ovary
2	chr8:1736400-1749800	Weak transcription	Liver	Liver
3	chr8:1736600-1747800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:1736800-1747600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:1736800-1748000	Weak transcription	Aorta	Aorta
6	chr8:1737800-1745800	Weak transcription	HSMMtube	muscle
7	chr8:1739000-1747800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:1740200-1747000	Weak transcription	Pancreas	Pancrea
9	chr8:1740400-1748000	Weak transcription	Left Ventricle	heart
10	chr8:1742200-1747600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:1743800-1747800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:1743800-1748200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:1744200-1745800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:1744600-1747000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:1744600-1747000	Weak transcription	Primary B cells from cord blood	blood
16	chr8:1744800-1747000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:1744800-1747000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:1744800-1753000	Weak transcription	Spleen	Spleen
19	chr8:1745000-1745800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:1745000-1747800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:1745000-1749600	Enhancers	Primary B cells from peripheral blood	blood
22	chr8:1745400-1746000	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:1745600-1745800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr8:1745800-1746200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:1745800-1747800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr8:1745800-1749800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:1746000-1746200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:1746200-1747000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:1746400-1748200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:1746800-1747000	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:1747000-1747200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:1747000-1747400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:1747000-1747400	Enhancers	Pancreas	Pancrea
34	chr8:1747000-1748400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:1747000-1748400	Enhancers	Primary B cells from cord blood	blood
36	chr8:1747000-1749200	Enhancers	Fetal Muscle Leg	muscle
37	chr8:1747000-1750000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr8:1747000-1750000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:1747200-1747400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:1747200-1747800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:1747400-1747600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:1747400-1747600	Enhancers	HSMM	muscle
43	chr8:1747400-1750400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:1747400-1761600	Weak transcription	Pancreas	Pancrea
45	chr8:1747600-1748000	Enhancers	Osteobl	bone
46	chr8:1747600-1749000	Enhancers	Fetal Stomach	stomach
47	chr8:1747600-1749400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:1747600-1749800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr8:1747600-1750000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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