Variant report

Variant	nsv876615
Chromosome Location	chr3:21941259-21965999
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	chr3:21948578..21950299-chr3:21951052..21953875,2	MCF-7	breast:
2	chr3:21948578..21950299-chr3:21951052..21953875,2	MCF-7	breast:
3	chr3:21946123..21950317-chr3:21950645..21954305,3	K562	blood:
4	chr3:21942258..21944994-chr3:21945829..21948153,2	K562	blood:
5	chr3:21939959..21942443-chr3:21956783..21959351,2	K562	blood:
6	chr3:21954020..21955585-chr3:21957563..21959846,2	MCF-7	breast:
7	chr3:21954020..21955585-chr3:21957563..21959846,2	MCF-7	breast:
8	chr3:21942258..21944994-chr3:21945829..21948153,2	K562	blood:
9	chr3:21939959..21942443-chr3:21956783..21959351,2	K562	blood:
10	chr3:21946123..21950317-chr3:21950645..21954305,3	K562	blood:

No data

Extended variants
information (count: 1168 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1168 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62236545	chr3:21942803-21942804	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62236546	chr3:21942888-21942889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs534590066	chr3:21942921-21942922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553202216	chr3:21942949-21942950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184878890	chr3:21942951-21942952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541965878	chr3:21942957-21942958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557095574	chr3:21942959-21942960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575406374	chr3:21942960-21942961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11924072	chr3:21942970-21942971	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs259484	chr3:21943004-21943005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528060802	chr3:21943030-21943031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs259483	chr3:21943040-21943041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562366852	chr3:21943042-21943043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78059370	chr3:21943112-21943113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188249328	chr3:21943132-21943133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143261421	chr3:21943159-21943160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192983136	chr3:21943166-21943167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114003431	chr3:21943182-21943183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17641808	chr3:21943191-21943192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560468345	chr3:21943199-21943200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184373653	chr3:21943200-21943201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564954853	chr3:21943206-21943207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535336193	chr3:21943260-21943261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79798871	chr3:21943268-21943269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575445586	chr3:21943296-21943297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117636412	chr3:21943302-21943303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557852938	chr3:21943314-21943315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572761377	chr3:21943315-21943316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73820183	chr3:21943338-21943339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148594401	chr3:21943346-21943347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574267938	chr3:21943347-21943348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377392882	chr3:21943355-21943356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562723362	chr3:21943380-21943381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111723868	chr3:21943387-21943388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116919641	chr3:21943405-21943406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113987788	chr3:21943409-21943410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560592008	chr3:21943411-21943412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9860705	chr3:21943429-21943430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549354277	chr3:21943435-21943436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545210047	chr3:21943449-21943450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368482532	chr3:21943450-21943451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17641853	chr3:21943466-21943467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535731343	chr3:21943467-21943468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550866206	chr3:21943468-21943469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79346440	chr3:21943482-21943483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557571932	chr3:21943485-21943486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572892513	chr3:21943504-21943505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533594707	chr3:21943505-21943506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533115379	chr3:21943529-21943530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555330046	chr3:21943585-21943586	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21942800-21943400	Enhancers	Liver	Liver
2	chr3:21943000-21943600	Enhancers	Hela-S3	cervix
3	chr3:21947000-21947200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr3:21947200-21948000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:21948000-21948400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:21948400-21950000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:21950000-21950800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr3:21950600-21951400	Enhancers	Fetal Lung	lung
9	chr3:21951400-21953800	Weak transcription	Fetal Lung	lung
10	chr3:21953800-21955400	Enhancers	Colon Smooth Muscle	Colon
11	chr3:21953800-21956800	Enhancers	Fetal Lung	lung
12	chr3:21954000-21954200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr3:21954000-21954800	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr3:21954000-21955400	Enhancers	NH-A	brain
15	chr3:21954000-21955600	Enhancers	Fetal Muscle Leg	muscle
16	chr3:21954000-21955600	Enhancers	NHLF	lung
17	chr3:21954000-21955800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:21954000-21956600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:21954000-21956600	Enhancers	NHDF-Ad	bronchial
20	chr3:21954200-21955600	Enhancers	Fetal Stomach	stomach
21	chr3:21954400-21960800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:21954600-21955800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:21954600-21956200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:21954600-21956400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:21954800-21957000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr3:21955400-21956400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:21955400-21960600	Weak transcription	NH-A	brain
28	chr3:21955600-21960600	Weak transcription	Fetal Stomach	stomach
29	chr3:21955600-21960800	Weak transcription	NHLF	lung
30	chr3:21955800-21961200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:21956200-21960600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:21956400-21960800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:21956400-21960800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:21956600-21960400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:21956600-21960400	Weak transcription	NHDF-Ad	bronchial
36	chr3:21956800-21957400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:21956800-21957400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:21956800-21957400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr3:21956800-21960400	Weak transcription	Fetal Lung	lung
40	chr3:21957000-21957400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr3:21957000-21960400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr3:21957400-21960600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:21957400-21960800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:21957400-21960800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr3:21957400-21961000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:21960400-21961000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr3:21960400-21961800	Enhancers	Fetal Lung	lung
48	chr3:21960400-21962400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr3:21960400-21963000	Enhancers	NHDF-Ad	bronchial
50	chr3:21960600-21961200	Enhancers	Brain Germinal Matrix	brain

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