Variant report

Variant	nsv460475
Chromosome Location	chr3:22063502-22144069
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:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:22090916..22093719-chr3:22096309..22098471,5	MCF-7	breast:
2	chr3:22130623..22131453-chr3:22928892..22930144,3	K562	blood:
3	chr3:22115704..22118143-chr3:22137096..22138813,2	MCF-7	breast:
4	chr3:22090916..22093719-chr3:22096309..22098471,5	MCF-7	breast:
5	chr3:22127371..22129495-chr3:22135710..22137615,2	K562	blood:
6	chr3:22115704..22118143-chr3:22137096..22138813,2	MCF-7	breast:
7	chr3:22127371..22129495-chr3:22135710..22137615,2	K562	blood:
8	chr3:22060147..22061903-chr3:22064159..22066026,2	K562	blood:
9	chr3:22130685..22131408-chr3:22159081..22159858,3	MCF-7	breast:
10	chr3:22130650..22131348-chr3:22159010..22159875,2	MCF-7	breast:

No data

Extended variants
information (count: 905 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:905 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188938037	chr3:22067820-22067821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs111877640	chr3:22067824-22067825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs576511804	chr3:22067887-22067888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs73137162	chr3:22067900-22067901	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558744221	chr3:22067939-22067940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577083039	chr3:22067964-22067965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs541331144	chr3:22068000-22068001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs140283868	chr3:22068015-22068016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs191485314	chr3:22068018-22068019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs375097922	chr3:22068023-22068024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs78509222	chr3:22068041-22068042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs537114584	chr3:22068048-22068049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs145377026	chr3:22068088-22068089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs570667732	chr3:22068101-22068102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs138009801	chr3:22068112-22068113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs546909683	chr3:22068113-22068114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs568382048	chr3:22068125-22068126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs259428	chr3:22068169-22068170	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183922479	chr3:22068170-22068171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs188205508	chr3:22068174-22068175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs537159636	chr3:22068190-22068191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs35681178	chr3:22068197-22068198	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181428583	chr3:22068222-22068223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184852270	chr3:22068225-22068226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs374869650	chr3:22068230-22068231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs553373828	chr3:22068237-22068238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs190036322	chr3:22068266-22068267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs541431943	chr3:22068270-22068271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs563310473	chr3:22068276-22068277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575207457	chr3:22068282-22068283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs545915629	chr3:22068297-22068298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs573352103	chr3:22068379-22068380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs114319387	chr3:22068406-22068407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs375711387	chr3:22068420-22068421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs181622329	chr3:22068424-22068425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs144062787	chr3:22068443-22068444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs148261218	chr3:22068444-22068445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs529204536	chr3:22068470-22068471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs141361031	chr3:22068487-22068488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs75620724	chr3:22068502-22068503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs187309264	chr3:22068507-22068508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs537096135	chr3:22068509-22068510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs552243417	chr3:22068534-22068535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs9851059	chr3:22068562-22068563	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs59900078	chr3:22068567-22068568	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs553553765	chr3:22068580-22068581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs147455592	chr3:22068596-22068597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs73137166	chr3:22072422-22072423	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368493321	chr3:22072458-22072459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs112659930	chr3:22072471-22072472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22067800-22068600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:22072400-22072800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:22079800-22081800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:22087400-22087800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr3:22087400-22087800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:22087400-22088200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:22088000-22088200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr3:22089400-22089600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:22106800-22107000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr3:22129800-22130200	Enhancers	Fetal Lung	lung
11	chr3:22129800-22130800	Enhancers	Colon Smooth Muscle	Colon
12	chr3:22130600-22130800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:22130600-22130800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:22130800-22131000	Active TSS	Hela-S3	cervix
15	chr3:22130800-22131200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:22130800-22131200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:22130800-22131200	Enhancers	Adipose Nuclei	Adipose
18	chr3:22130800-22132400	Enhancers	Liver	Liver
19	chr3:22131000-22131200	Enhancers	Pancreas	Pancrea
20	chr3:22131000-22131200	Flanking Active TSS	Hela-S3	cervix
21	chr3:22131200-22133000	Enhancers	Hela-S3	cervix
22	chr3:22132800-22133200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr3:22133200-22133800	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr3:22135000-22135400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr3:22135400-22139600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:22138200-22139000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:22139000-22139800	Enhancers	Hela-S3	cervix
28	chr3:22139600-22139800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr3:22139600-22140200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:22139600-22140200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:22142800-22144000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr3:22142800-22144000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr3:22143400-22144000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:22144000-22146600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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