Variant report

Variant	nsv876605
Chromosome Location	chr3:20798214-20895742
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:20884787..20886669-chr3:20993293..20995378,2	K562	blood:
2	chr3:20800581..20802290-chr3:20809522..20812257,2	K562	blood:
3	chr3:20864204..20867034-chr3:20867315..20869207,3	K562	blood:
4	chr3:20882801..20884496-chr3:20885503..20888322,2	K562	blood:
5	chr3:20876604..20878785-chr3:20879848..20882141,2	K562	blood:
6	chr3:20884248..20889854-chr3:20892080..20895253,4	K562	blood:
7	chr3:20864204..20867034-chr3:20867315..20869207,3	K562	blood:
8	chr1:11966805..11970278-chr3:20885070..20888091,20	K562	blood:
9	chr1:11967831..11969033-chr3:20886071..20887071,5	HCT-116	colon:
10	chr3:20837819..20840571-chr3:20854942..20856484,2	K562	blood:
11	chr3:20865806..20867984-chr3:20870271..20872902,2	MCF-7	breast:
12	chr3:20849581..20851162-chr3:20931039..20933755,2	K562	blood:
13	chr3:20882801..20884496-chr3:20885503..20888322,2	K562	blood:
14	chr3:20881823..20883921-chr3:20890790..20893677,2	K562	blood:
15	chr3:20870583..20874508-chr3:20874990..20878063,3	K562	blood:
16	chr3:20875856..20878691-chr3:20885550..20887328,2	K562	blood:
17	chr3:20882544..20885504-chr3:20932592..20934686,2	K562	blood:
18	chr3:20875856..20878691-chr3:20885550..20887328,2	K562	blood:
19	chr3:20885773..20889854-chr3:20892035..20895273,4	K562	blood:
20	chr3:20837819..20840571-chr3:20854942..20856484,2	K562	blood:
21	chr3:20881823..20883921-chr3:20890790..20893677,2	K562	blood:
22	chr3:20795079..20796913-chr3:20797062..20799579,3	MCF-7	breast:
23	chr3:20800581..20802290-chr3:20809522..20812257,2	K562	blood:
24	chr3:20801549..20804402-chr3:20814292..20816121,2	MCF-7	breast:
25	chr3:20865806..20867984-chr3:20870271..20872902,2	MCF-7	breast:
26	chr3:20884248..20889854-chr3:20892080..20895253,4	K562	blood:
27	chr1:11966625..11969718-chr3:20885070..20888090,17	K562	blood:
28	chr3:20801549..20804402-chr3:20814292..20816121,2	MCF-7	breast:
29	chr3:20876604..20878785-chr3:20879848..20882141,2	K562	blood:
30	chr3:20870583..20874508-chr3:20874990..20878063,3	K562	blood:
31	chr3:20885773..20889854-chr3:20892035..20895273,4	K562	blood:
32	chr1:11967944..11968718-chr3:20886090..20887071,3	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000201801	chromatin interactions
ENSG00000199347	chromatin interactions

Extended variants
information (count: 1056 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1056 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564198757	chr3:20802607-20802608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143794329	chr3:20802619-20802620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537220900	chr3:20802624-20802625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377617960	chr3:20802650-20802651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543611038	chr3:20802675-20802676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555858575	chr3:20802689-20802690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369929725	chr3:20802736-20802737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188396052	chr3:20802739-20802740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568699935	chr3:20802754-20802755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6806978	chr3:20802793-20802794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114267996	chr3:20802794-20802795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192419466	chr3:20802815-20802816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61351283	chr3:20802843-20802844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557824890	chr3:20802856-20802857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371305469	chr3:20802936-20802937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148163925	chr3:20802938-20802939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188214853	chr3:20802957-20802958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576922666	chr3:20802958-20802959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538277471	chr3:20802991-20802992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111793058	chr3:20803057-20803058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55648016	chr3:20803059-20803060	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75379903	chr3:20803155-20803156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145214114	chr3:20803192-20803193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545862462	chr3:20803289-20803290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77654481	chr3:20803290-20803291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180972686	chr3:20803366-20803367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137893494	chr3:20803379-20803380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141354728	chr3:20811020-20811021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577881211	chr3:20811030-20811031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28583532	chr3:20811056-20811057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143853356	chr3:20811065-20811066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116372973	chr3:20811196-20811197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190082368	chr3:20811207-20811208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561326517	chr3:20811245-20811246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200376734	chr3:20811276-20811277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531847687	chr3:20811286-20811287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556041418	chr3:20811315-20811316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368432368	chr3:20811374-20811375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562691458	chr3:20811423-20811424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116131877	chr3:20811440-20811441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115051650	chr3:20811450-20811451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566691676	chr3:20811485-20811486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182242642	chr3:20811514-20811515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548570412	chr3:20811531-20811532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185681973	chr3:20811616-20811617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533078807	chr3:20811619-20811620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146877161	chr3:20811647-20811648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73819374	chr3:20811648-20811649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189359040	chr3:20811684-20811685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62235047	chr3:20811691-20811692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20802600-20803400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:20811000-20811200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:20811200-20814000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:20813400-20815200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr3:20813800-20815400	Enhancers	HepG2	liver
6	chr3:20814000-20814200	Enhancers	Liver	Liver
7	chr3:20814000-20815000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:20814200-20814400	Flanking Active TSS	Liver	Liver
9	chr3:20814400-20814600	Enhancers	Liver	Liver
10	chr3:20814600-20815600	Flanking Active TSS	Liver	Liver
11	chr3:20814800-20815200	Enhancers	Gastric	stomach
12	chr3:20828000-20828400	Enhancers	Fetal Stomach	stomach
13	chr3:20828200-20829000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr3:20850000-20850400	Active TSS	Fetal Heart	heart
15	chr3:20854800-20855400	Enhancers	K562	blood
16	chr3:20865600-20866200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:20867200-20868000	Enhancers	K562	blood
18	chr3:20870000-20870400	Enhancers	HepG2	liver
19	chr3:20875000-20875800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr3:20875200-20875800	Enhancers	Brain Germinal Matrix	brain
21	chr3:20878400-20878800	Active TSS	Fetal Brain Male	brain
22	chr3:20878400-20878800	Enhancers	Fetal Kidney	kidney
23	chr3:20878400-20880000	Enhancers	Fetal Lung	lung
24	chr3:20878800-20879000	Weak transcription	Fetal Brain Male	brain
25	chr3:20878800-20884200	Weak transcription	Fetal Kidney	kidney
26	chr3:20879000-20879600	Enhancers	Fetal Brain Male	brain
27	chr3:20879200-20880000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr3:20879400-20879800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr3:20879400-20879800	Enhancers	Fetal Muscle Leg	muscle
30	chr3:20879400-20879800	Enhancers	Fetal Stomach	stomach
31	chr3:20879400-20880000	Enhancers	Adipose Nuclei	Adipose
32	chr3:20879800-20885800	Weak transcription	Fetal Stomach	stomach
33	chr3:20880000-20883600	Weak transcription	Fetal Lung	lung
34	chr3:20883200-20883600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:20883400-20883600	Enhancers	Psoas Muscle	Psoas
36	chr3:20883600-20884000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:20883600-20884200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr3:20883600-20884400	Enhancers	K562	blood
39	chr3:20883600-20887800	Enhancers	Fetal Lung	lung
40	chr3:20883600-20891600	Weak transcription	Psoas Muscle	Psoas
41	chr3:20883800-20885600	Enhancers	Brain Germinal Matrix	brain
42	chr3:20884200-20884600	Enhancers	Fetal Kidney	kidney
43	chr3:20884400-20885400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr3:20884600-20885800	Weak transcription	Fetal Kidney	kidney
45	chr3:20885400-20885800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr3:20885800-20886000	Enhancers	Fetal Kidney	kidney
47	chr3:20885800-20886000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr3:20885800-20886600	Enhancers	Fetal Stomach	stomach
49	chr3:20886000-20887600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr3:20886400-20886800	Enhancers	H9 Cell Line	embryonic stem cell

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