Variant report

Variant	nsv890632
Chromosome Location	chr8:19816371-19853146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:19807869..19810930-chr8:19812485..19816612,3	K562	blood:
2	chr8:19820325..19822189-chr8:19825271..19827083,2	K562	blood:
3	chr8:19845716..19848259-chr8:19851738..19854660,2	K562	blood:
4	chr8:19835726..19838194-chr8:19839836..19842333,2	K562	blood:
5	chr8:19845716..19848259-chr8:19851738..19854660,2	K562	blood:
6	chr8:19811879..19814750-chr8:19820326..19823164,2	K562	blood:
7	chr8:19796366..19798853-chr8:19819344..19821479,2	K562	blood:
8	chr8:19820325..19822189-chr8:19825271..19827083,2	K562	blood:
9	chr8:19835726..19838194-chr8:19839836..19842333,2	K562	blood:
10	chr8:19847973..19850386-chr8:19927067..19928917,2	K562	blood:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LPL	hsa-miR-29a-3p	chr8:19824617-19824624
2	LPL	hsa-miR-29a-3p	chr8:19824603-19824624

Variant related genes	Relation type
ENSG00000175445	chromatin interactions

Extended variants
information (count: 1025 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1025 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs297	chr8:19816371-19816372	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569376857	chr8:19816454-19816455	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs536798982	chr8:19816462-19816463	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs563680108	chr8:19816465-19816466	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs573428482	chr8:19816468-19816469	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs540547279	chr8:19816487-19816488	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs34613868	chr8:19816520-19816521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs188570656	chr8:19816541-19816542	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs577539793	chr8:19816546-19816547	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs575917968	chr8:19816557-19816558	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs148456455	chr8:19816584-19816585	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs192969750	chr8:19816610-19816611	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs530512924	chr8:19816616-19816617	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs375558504	chr8:19816637-19816638	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs184877243	chr8:19816672-19816673	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs576695863	chr8:19816704-19816705	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs560899136	chr8:19816708-19816709	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs73601683	chr8:19816717-19816718	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77011622	chr8:19816720-19816721	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs370836695	chr8:19816763-19816764	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs199912722	chr8:19816801-19816802	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs118204071	chr8:19816833-19816834	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs546542623	chr8:19816846-19816847	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200121996	chr8:19816859-19816860	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs298	chr8:19816860-19816861	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs299	chr8:19816880-19816881	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs300	chr8:19816887-19816888	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs76708715	chr8:19816888-19816889	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs374674661	chr8:19816905-19816906	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs368730892	chr8:19816906-19816907	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs371513717	chr8:19816907-19816908	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs74926303	chr8:19816911-19816912	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs201072028	chr8:19816932-19816933	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs301	chr8:19816934-19816935	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
35	rs566920123	chr8:19816942-19816943	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs302	chr8:19816967-19816968	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs34500595	chr8:19816974-19816975	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs558941101	chr8:19817054-19817055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573548058	chr8:19817067-19817068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577478377	chr8:19817088-19817089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538674128	chr8:19817098-19817099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368006343	chr8:19817101-19817102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529264019	chr8:19817129-19817130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183821381	chr8:19817177-19817178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556536154	chr8:19817270-19817271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs303	chr8:19817279-19817280	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs13257355	chr8:19817289-19817290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71205952	chr8:19817317-19817318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74815849	chr8:19817318-19817319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542299795	chr8:19817351-19817352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	22341455	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19798200-19818400	Weak transcription	K562	blood
2	chr8:19798600-19824200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:19799800-19819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:19800800-19823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:19804400-19819600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:19805000-19816600	Strong transcription	Fetal Lung	lung
7	chr8:19805000-19824800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:19805800-19824600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:19806400-19819800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:19806800-19819600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:19808800-19819600	Strong transcription	Left Ventricle	heart
12	chr8:19809000-19817800	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:19809600-19819400	Weak transcription	Brain Anterior Caudate	brain
14	chr8:19810000-19816800	Strong transcription	Right Ventricle	heart
15	chr8:19811600-19818400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:19811800-19819200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:19811800-19822400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:19811800-19826000	Weak transcription	Brain Germinal Matrix	brain
19	chr8:19812000-19819400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:19812600-19819200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:19812800-19817000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:19813000-19819200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:19813600-19823000	Weak transcription	Fetal Brain Male	brain
24	chr8:19813800-19819000	Weak transcription	Fetal Heart	heart
25	chr8:19814000-19819400	Weak transcription	Ovary	ovary
26	chr8:19814200-19819200	Strong transcription	Adipose Nuclei	Adipose
27	chr8:19814200-19820000	Weak transcription	Psoas Muscle	Psoas
28	chr8:19814200-19821600	Weak transcription	Fetal Brain Female	brain
29	chr8:19814400-19819400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:19814800-19822800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:19816000-19819600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:19816200-19816800	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr8:19816200-19817000	ZNF genes & repeats	Aorta	Aorta
34	chr8:19816200-19817000	Strong transcription	Lung	lung
35	chr8:19816600-19818400	Weak transcription	Fetal Lung	lung
36	chr8:19816800-19819400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:19816800-19819600	Weak transcription	Right Ventricle	heart
38	chr8:19817000-19820200	Weak transcription	Lung	lung
39	chr8:19817000-19824800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:19817800-19818400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:19818400-19818800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr8:19818400-19820400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:19818400-19822800	Strong transcription	Fetal Lung	lung
44	chr8:19818800-19819600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr8:19819000-19819600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr8:19819000-19820600	Genic enhancers	Fetal Heart	heart
47	chr8:19819200-19820000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr8:19819200-19820400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:19819200-19820400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:19819200-19820600	Genic enhancers	Adipose Nuclei	Adipose

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