Variant report

Variant	nsv1033319
Chromosome Location	chr8:20606592-20718378
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:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20292679..20293278-chr8:20647078..20647630,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1B2-8	chr8:20622616-20623335	NONHSAT125403
2	lnc-ATP6V1B2-8	chr8:20623157-20623232	FPKM1_group_30976_transcript_3
3	lnc-ATP6V1B2-8	chr8:20622616-20623335	FPKM1_group_30976_transcript_3
4	lnc-ATP6V1B2-8	chr8:20628026-20628101	NONHSAT125403

No data

Extended variants
information (count: 3064 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:3064 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544260158	chr8:20612215-20612216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549474023	chr8:20612237-20612238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370671404	chr8:20612245-20612246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556164046	chr8:20612286-20612287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146467506	chr8:20612287-20612288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541766594	chr8:20612297-20612298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560246511	chr8:20612334-20612335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528531443	chr8:20612341-20612342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571955697	chr8:20612349-20612350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190373852	chr8:20612352-20612353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78850912	chr8:20612369-20612370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181523112	chr8:20612416-20612417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186263938	chr8:20612488-20612489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139151880	chr8:20612496-20612497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17604087	chr8:20612528-20612529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191924009	chr8:20612537-20612538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143158065	chr8:20612569-20612570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540080007	chr8:20612620-20612621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552286571	chr8:20612673-20612674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113192558	chr8:20612677-20612678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183894719	chr8:20612690-20612691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188785836	chr8:20612734-20612735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190919390	chr8:20612813-20612814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139909400	chr8:20612814-20612815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117342509	chr8:20612876-20612877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571892131	chr8:20612902-20612903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557540344	chr8:20612912-20612913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569305829	chr8:20612916-20612917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141314625	chr8:20612921-20612922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563959623	chr8:20612928-20612929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372336760	chr8:20612951-20612952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373709754	chr8:20612956-20612957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576092162	chr8:20612981-20612982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2616216	chr8:20613001-20613002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182250232	chr8:20613008-20613009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529318947	chr8:20613020-20613021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186955928	chr8:20613027-20613028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560123806	chr8:20613034-20613035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533545228	chr8:20613043-20613044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17604094	chr8:20613067-20613068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191802978	chr8:20613078-20613079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34491113	chr8:20613100-20613101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369237050	chr8:20613169-20613170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549657402	chr8:20613185-20613186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117811744	chr8:20613217-20613218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563559518	chr8:20613316-20613317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184324658	chr8:20613330-20613331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2616217	chr8:20613337-20613338	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554008933	chr8:20613388-20613389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552688317	chr8:20613397-20613398	Enhancers Weak transcription	n/a	n/a	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20612200-20612600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr8:20612600-20614000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:20613200-20614000	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr8:20614000-20614400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr8:20614400-20618800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:20618800-20620200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr8:20623800-20624400	Enhancers	Fetal Heart	heart
8	chr8:20624400-20628800	Weak transcription	Fetal Heart	heart
9	chr8:20628600-20629000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:20628600-20630800	Enhancers	Left Ventricle	heart
11	chr8:20628800-20631400	Enhancers	Fetal Heart	heart
12	chr8:20629000-20629600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:20630400-20631200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:20642200-20647400	Enhancers	Fetal Heart	heart
15	chr8:20642600-20642800	Enhancers	Left Ventricle	heart
16	chr8:20643000-20644200	Weak transcription	Left Ventricle	heart
17	chr8:20643200-20643400	Enhancers	Right Atrium	heart
18	chr8:20643400-20643800	Enhancers	Colon Smooth Muscle	Colon
19	chr8:20643400-20644000	Weak transcription	Right Atrium	heart
20	chr8:20643600-20644200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:20644000-20644200	Enhancers	Right Atrium	heart
22	chr8:20644000-20645200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:20644200-20644800	Enhancers	Left Ventricle	heart
24	chr8:20644200-20651000	Weak transcription	Right Atrium	heart
25	chr8:20645200-20647200	Enhancers	Fetal Stomach	stomach
26	chr8:20645600-20646000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:20645600-20647200	Enhancers	Fetal Brain Female	brain
28	chr8:20646600-20647000	Enhancers	Fetal Lung	lung
29	chr8:20646600-20647400	Enhancers	Fetal Brain Male	brain
30	chr8:20647200-20649400	Weak transcription	Fetal Stomach	stomach
31	chr8:20647400-20657600	Weak transcription	Fetal Heart	heart
32	chr8:20648400-20649200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:20649400-20650200	Enhancers	Fetal Stomach	stomach
34	chr8:20656400-20659400	Enhancers	Brain Germinal Matrix	brain
35	chr8:20656800-20657000	Enhancers	Fetal Brain Female	brain
36	chr8:20657000-20658200	Weak transcription	Fetal Brain Female	brain
37	chr8:20657200-20657400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:20657200-20658000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:20657200-20658400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:20657400-20658800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:20657400-20661000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:20657600-20658000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:20657600-20658000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr8:20657600-20658000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:20657600-20659400	Enhancers	Fetal Heart	heart
46	chr8:20657800-20658200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:20658000-20658200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:20658000-20659200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:20658000-20659400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:20658000-20661000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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