Variant report

Variant	nsv979763
Chromosome Location	chr3:22137142-22139791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:22127371..22129495-chr3:22135710..22137615,2	K562	blood:
2	chr3:22115704..22118143-chr3:22137096..22138813,2	MCF-7	breast:

Extended variants
information (count: 177 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148904059	chr3:22137154-22137155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74700863	chr3:22137157-22137158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79044472	chr3:22137231-22137232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547479784	chr3:22137233-22137234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181313106	chr3:22137237-22137238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186373573	chr3:22137247-22137248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs779171	chr3:22137266-22137267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552015370	chr3:22137269-22137270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532218748	chr3:22137271-22137272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547632085	chr3:22137294-22137295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565842942	chr3:22137304-22137305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534170831	chr3:22137307-22137308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150874543	chr3:22137310-22137311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112550847	chr3:22137328-22137329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs66941234	chr3:22137348-22137349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549126708	chr3:22137355-22137356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4044439	chr3:22137359-22137360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201058387	chr3:22137360-22137361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191682726	chr3:22137361-22137362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13065074	chr3:22137374-22137375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556742490	chr3:22137376-22137377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578211487	chr3:22137383-22137384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539244006	chr3:22137418-22137419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs779170	chr3:22137440-22137441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572670177	chr3:22137462-22137463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554350621	chr3:22137480-22137481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542574221	chr3:22137506-22137507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182083318	chr3:22137507-22137508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186032648	chr3:22137535-22137536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575658385	chr3:22137551-22137552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543107716	chr3:22137594-22137595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191194834	chr3:22137610-22137611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs796623	chr3:22137611-22137612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs556494604	chr3:22137612-22137613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183347642	chr3:22137619-22137620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373970664	chr3:22137620-22137621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13065477	chr3:22137631-22137632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185313272	chr3:22137654-22137655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536100340	chr3:22137660-22137661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548493177	chr3:22137668-22137669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556308735	chr3:22137673-22137674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576432641	chr3:22137683-22137684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs137995510	chr3:22137695-22137696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532885094	chr3:22137696-22137697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149498425	chr3:22137745-22137746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111940496	chr3:22137770-22137771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539194253	chr3:22137797-22137798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190865438	chr3:22137798-22137799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572633122	chr3:22137810-22137811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572028829	chr3:22137814-22137815	Weak transcription	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
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22135400-22139600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:22138200-22139000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:22139000-22139800	Enhancers	Hela-S3	cervix
4	chr3:22139600-22139800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr3:22139600-22140200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:22139600-22140200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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