Variant report

Variant	nsv967075
Chromosome Location	chr3:142895439-142897786
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	chr3:142889235..142895118-chr3:142897231..142901814,7	K562	blood:
2	chr3:142895472..142897996-chr3:143019191..143020977,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369264843	chr3:142895439-142895440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557189529	chr3:142895449-142895450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577881781	chr3:142895462-142895463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555919583	chr3:142895465-142895466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573931204	chr3:142895480-142895481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572799749	chr3:142895484-142895485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536304168	chr3:142895497-142895498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146134299	chr3:142895508-142895509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139964278	chr3:142895511-142895512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539832222	chr3:142895517-142895518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373481151	chr3:142895519-142895520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577118418	chr3:142895523-142895524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544407062	chr3:142895528-142895529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80262371	chr3:142895544-142895545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530150030	chr3:142895547-142895548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548637903	chr3:142895558-142895559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560364561	chr3:142895571-142895572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527721095	chr3:142895577-142895578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552281558	chr3:142895578-142895579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577934921	chr3:142895596-142895597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182035089	chr3:142895607-142895608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550805330	chr3:142895611-142895612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569571260	chr3:142895620-142895621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569038901	chr3:142895629-142895630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536037803	chr3:142895637-142895638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554683281	chr3:142895670-142895671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572841624	chr3:142895682-142895683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533829940	chr3:142895759-142895760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144889360	chr3:142895782-142895783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577127786	chr3:142895796-142895797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563927670	chr3:142895827-142895828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186370166	chr3:142895861-142895862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73866411	chr3:142895904-142895905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370412839	chr3:142895913-142895914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10049327	chr3:142895926-142895927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs61739574	chr3:142895935-142895936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs200846090	chr3:142895940-142895941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9825493	chr3:142895953-142895954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560678009	chr3:142895986-142895987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147789778	chr3:142896010-142896011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546223395	chr3:142896012-142896013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141241779	chr3:142896029-142896030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2352731	chr3:142896048-142896049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550866148	chr3:142896057-142896058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569157737	chr3:142896068-142896069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188478389	chr3:142896084-142896085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61733670	chr3:142896107-142896108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1661133	chr3:142896131-142896132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566563977	chr3:142896151-142896152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180856786	chr3:142896177-142896178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142891600-142897000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr3:142892000-142898400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:142893200-142909200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr3:142894200-142900200	Weak transcription	GM12878-XiMat	blood
5	chr3:142894400-142897800	Weak transcription	Fetal Lung	lung
6	chr3:142894400-142898400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:142894400-142898400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr3:142894400-142898400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr3:142894400-142899600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:142894400-142900800	Weak transcription	K562	blood
11	chr3:142894800-142896200	Weak transcription	Dnd41	blood
12	chr3:142894800-142898200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr3:142894800-142898400	Weak transcription	Primary T cells from cord blood	blood
14	chr3:142896200-142896800	Enhancers	Dnd41	blood
15	chr3:142896800-142898200	Weak transcription	Dnd41	blood
16	chr3:142896800-142898800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr3:142897000-142898800	Enhancers	Monocytes-CD14+_RO01746	blood

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