Variant report

Variant	nsv1032405
Chromosome Location	chr8:19634973-19658017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19626579..19627442-chr8:19636746..19637741,3	K562	blood:
2	chr8:19633967..19636111-chr8:19642134..19644107,2	K562	blood:
3	chr8:19643063..19645409-chr8:19673165..19675619,2	K562	blood:
4	chr8:19651891..19655756-chr8:19674001..19676708,3	K562	blood:
5	chr8:19633967..19636111-chr8:19642134..19644107,2	K562	blood:
6	chr8:19656532..19659284-chr8:19668673..19672507,3	K562	blood:
7	chr8:19652489..19655756-chr8:19672094..19675501,3	K562	blood:

Variant related genes	Relation type
ENSG00000104613	chromatin interactions

Extended variants
information (count: 623 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542534751	chr8:19636809-19636810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62496676	chr8:19636836-19636837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562092297	chr8:19636868-19636869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575839888	chr8:19636907-19636908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545142142	chr8:19636915-19636916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564877982	chr8:19636937-19636938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62496677	chr8:19636940-19636941	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547112879	chr8:19636964-19636965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560848443	chr8:19636986-19636987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529688591	chr8:19637008-19637009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62496678	chr8:19637009-19637010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs75489224	chr8:19637023-19637024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569534364	chr8:19637049-19637050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531987098	chr8:19637055-19637056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530160778	chr8:19637060-19637061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117623420	chr8:19637068-19637069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571682657	chr8:19637138-19637139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534276845	chr8:19637158-19637159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143644165	chr8:19637192-19637193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386723263	chr8:19637193-19637194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77063611	chr8:19637195-19637196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553946010	chr8:19637197-19637198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62496679	chr8:19637222-19637223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs62496680	chr8:19637228-19637229	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs142902101	chr8:19637235-19637236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62496681	chr8:19637238-19637239	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575929068	chr8:19637256-19637257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188542234	chr8:19637261-19637262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558702535	chr8:19637274-19637275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111781761	chr8:19637316-19637317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114812635	chr8:19637330-19637331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541144075	chr8:19637345-19637346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571111976	chr8:19637351-19637352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140999125	chr8:19637353-19637354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74371372	chr8:19637355-19637356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376141026	chr8:19637357-19637358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370262247	chr8:19637358-19637359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555756831	chr8:19643016-19643017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554674134	chr8:19643021-19643022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574497398	chr8:19643058-19643059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1492639	chr8:19643151-19643152	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143238590	chr8:19643182-19643183	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576641603	chr8:19643193-19643194	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545618414	chr8:19643289-19643290	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565154524	chr8:19643312-19643313	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12548388	chr8:19643313-19643314	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs547488986	chr8:19643314-19643315	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs190990567	chr8:19643320-19643321	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530148555	chr8:19643365-19643366	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs7817719	chr8:19643375-19643376	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	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
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19636800-19637200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:19636800-19637400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr8:19637000-19637200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr8:19637000-19637200	Enhancers	Brain Substantia Nigra	brain
5	chr8:19637000-19637400	Enhancers	Brain Hippocampus Middle	brain
6	chr8:19637200-19637400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:19643000-19643800	Enhancers	Fetal Lung	lung
8	chr8:19643000-19644000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:19643000-19644000	Enhancers	K562	blood
10	chr8:19643000-19644400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr8:19643200-19643600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:19643200-19644000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:19643200-19644200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:19643400-19644200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:19643600-19646200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:19643800-19650600	Weak transcription	Fetal Lung	lung
17	chr8:19644000-19644400	Flanking Active TSS	K562	blood
18	chr8:19644200-19645800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:19644400-19644600	Enhancers	K562	blood
20	chr8:19645800-19646200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:19646000-19646200	Enhancers	Fetal Kidney	kidney
22	chr8:19646000-19647000	Enhancers	Brain Germinal Matrix	brain
23	chr8:19646200-19646400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:19646200-19646600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:19646400-19646800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:19646600-19647000	Active TSS	Brain Anterior Caudate	brain
27	chr8:19646600-19647400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:19646600-19647400	Enhancers	Colon Smooth Muscle	Colon
29	chr8:19646800-19647000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:19646800-19647000	Enhancers	Fetal Kidney	kidney
31	chr8:19646800-19647200	Enhancers	NHDF-Ad	bronchial
32	chr8:19647200-19649400	Weak transcription	NHDF-Ad	bronchial
33	chr8:19647400-19651000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:19649000-19649600	Enhancers	HepG2	liver
35	chr8:19650600-19652400	Enhancers	Fetal Lung	lung
36	chr8:19651000-19651200	Enhancers	NHDF-Ad	bronchial
37	chr8:19651000-19651600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:19651000-19651600	Enhancers	Fetal Muscle Leg	muscle
39	chr8:19651200-19651600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:19651200-19651600	Enhancers	Right Atrium	heart
41	chr8:19651200-19651600	Enhancers	NHLF	lung
42	chr8:19652400-19653200	Weak transcription	Fetal Lung	lung
43	chr8:19653200-19654000	Enhancers	Fetal Lung	lung
44	chr8:19653400-19653600	Enhancers	Fetal Muscle Leg	muscle
45	chr8:19653600-19654000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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