Variant report

Variant	nsv1010630
Chromosome Location	chr3:21197843-21231349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:21207950..21210850-chr3:21212178..21213928,2	K562	blood:
2	chr3:21205402..21208322-chr3:21209638..21211827,2	K562	blood:
3	chr3:21205402..21208322-chr3:21209638..21211827,2	K562	blood:
4	chr3:21207903..21212103-chr3:21235234..21238537,4	K562	blood:
5	chr3:21207950..21210850-chr3:21212178..21213928,2	K562	blood:
6	chr3:21194222..21197075-chr3:21200094..21202897,2	K562	blood:

Extended variants
information (count: 474 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7635122	chr3:21197843-21197844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371523586	chr3:21197868-21197869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141553654	chr3:21197944-21197945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547537427	chr3:21198005-21198006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182851897	chr3:21198032-21198033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187264423	chr3:21198057-21198058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74400926	chr3:21198063-21198064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7639839	chr3:21198099-21198100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570060391	chr3:21198113-21198114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532562579	chr3:21198122-21198123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537048141	chr3:21198159-21198160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552748048	chr3:21198172-21198173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7647664	chr3:21198200-21198201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1436825	chr3:21198266-21198267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192085758	chr3:21198317-21198318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369441155	chr3:21198373-21198374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376158468	chr3:21198384-21198385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528773243	chr3:21198404-21198405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183167301	chr3:21198405-21198406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151068512	chr3:21198447-21198448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368409384	chr3:21198501-21198502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79603172	chr3:21198566-21198567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187870659	chr3:21198628-21198629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548649344	chr3:21198639-21198640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75344663	chr3:21198662-21198663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373976620	chr3:21198697-21198698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193013625	chr3:21198728-21198729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376899258	chr3:21198742-21198743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114502504	chr3:21198744-21198745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559555876	chr3:21198752-21198753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530211808	chr3:21198801-21198802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548911931	chr3:21198854-21198855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75182345	chr3:21198866-21198867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185737678	chr3:21198870-21198871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552559318	chr3:21198873-21198874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115795495	chr3:21198906-21198907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372484064	chr3:21199024-21199025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537085290	chr3:21199049-21199050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535154159	chr3:21199086-21199087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545334718	chr3:21199114-21199115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187493974	chr3:21199123-21199124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565910187	chr3:21199124-21199125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150240541	chr3:21199140-21199141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554857162	chr3:21199146-21199147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372289069	chr3:21199190-21199191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576210328	chr3:21199195-21199196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536668951	chr3:21199197-21199198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78751120	chr3:21199215-21199216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73821019	chr3:21199270-21199271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540756583	chr3:21199313-21199314	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Melanoma	20688739	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21197000-21198800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:21198800-21199400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:21198800-21199600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:21199600-21201400	Enhancers	Fetal Stomach	stomach
5	chr3:21199800-21201600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:21200000-21200400	Enhancers	NHDF-Ad	bronchial
7	chr3:21200000-21201400	Enhancers	Colon Smooth Muscle	Colon
8	chr3:21200000-21201600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:21200400-21200800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:21200400-21200800	Flanking Active TSS	NHDF-Ad	bronchial
11	chr3:21200400-21201000	Enhancers	NH-A	brain
12	chr3:21200400-21201200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:21200400-21201200	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:21200400-21201400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:21200400-21201400	Enhancers	NHLF	lung
16	chr3:21200400-21201800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:21200600-21200800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:21200600-21201200	Enhancers	Fetal Kidney	kidney
19	chr3:21200800-21201800	Enhancers	NHDF-Ad	bronchial
20	chr3:21201600-21202600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:21202800-21203000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:21211000-21212600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:21211200-21212600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:21211400-21212600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:21211400-21212600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr3:21211600-21212600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:21211800-21212600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:21211800-21212600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:21212600-21213600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr3:21212600-21213600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:21212600-21213800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:21212600-21213800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:21212600-21213800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:21212600-21213800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr3:21212600-21213800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr3:21213800-21214000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:21213800-21214000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:21213800-21214000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr3:21213800-21214200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:21213800-21214200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr3:21213800-21214200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:21214200-21214400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:21215800-21216200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:21216000-21216600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:21216400-21216800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr3:21217200-21217800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:21217800-21219000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:21230200-21230600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr3:21230200-21231400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:21230400-21230600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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