Variant report

Variant	nsv824388
Chromosome Location	chr7:149391542-149396933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:149395351..149398006-chr7:149410098..149411759,2	MCF-7	breast:
2	chr7:149393547..149395180-chr7:149411551..149413591,2	K562	blood:
3	chr7:149395814..149398118-chr7:149398212..149401967,3	MCF-7	breast:
4	chr7:149395110..149397446-chr7:149409565..149411278,3	K562	blood:
5	chr7:149395823..149397827-chr7:149405014..149406771,2	K562	blood:

Variant related genes	Relation type
ENSG00000133619	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs537447641	chr7:149391575-149391576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564972224	chr7:149391634-149391635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556454920	chr7:149391655-149391656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575604264	chr7:149391687-149391688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544544322	chr7:149391743-149391744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147769063	chr7:149391753-149391754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76744572	chr7:149391774-149391775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139518154	chr7:149391810-149391811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183249964	chr7:149391822-149391823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149815047	chr7:149391845-149391846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1371120	chr7:149391856-149391857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551942591	chr7:149391893-149391894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571555988	chr7:149391901-149391902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112224596	chr7:149391949-149391950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550900154	chr7:149391960-149391961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542748177	chr7:149391968-149391969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1371119	chr7:149391987-149391988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536218309	chr7:149392059-149392060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187862614	chr7:149392096-149392097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59161258	chr7:149392126-149392127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182746751	chr7:149392167-149392168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187721343	chr7:149392236-149392237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575543077	chr7:149392261-149392262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112135473	chr7:149392279-149392280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145635266	chr7:149392334-149392335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147753776	chr7:149392335-149392336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542967344	chr7:149392441-149392442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576832463	chr7:149392448-149392449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552451562	chr7:149392455-149392456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77160066	chr7:149392609-149392610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61604786	chr7:149392610-149392611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112857779	chr7:149392628-149392629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200868736	chr7:149392631-149392632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117043113	chr7:149392698-149392699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564662234	chr7:149392747-149392748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10225014	chr7:149392766-149392767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552161198	chr7:149392787-149392788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545200681	chr7:149392873-149392874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59676581	chr7:149392920-149392921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs35504273	chr7:149392924-149392925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530976555	chr7:149392970-149392971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550786131	chr7:149393037-149393038	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115865326	chr7:149393073-149393074	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187220411	chr7:149393085-149393086	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111865180	chr7:149393100-149393101	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143261224	chr7:149393121-149393122	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538708640	chr7:149393148-149393149	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565211337	chr7:149393211-149393212	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs73475645	chr7:149393237-149393238	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs376989784	chr7:149393239-149393240	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149390000-149392800	Weak transcription	Pancreas	Pancrea
2	chr7:149390200-149397800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:149390200-149400000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:149393000-149393200	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:149393200-149393600	Bivalent Enhancer	A549	lung

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