Variant report

Variant	nsv1020873
Chromosome Location	chr7:109405871-109454259
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	chr7:109452833..109454349-chr7:109467899..109470407,2	K562	blood:

Extended variants
information (count: 706 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578001383	chr7:109405899-109405900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533085371	chr7:109405901-109405902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370299665	chr7:109405908-109405909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553819757	chr7:109405942-109405943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573591888	chr7:109405976-109405977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569680032	chr7:109405997-109405998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199760169	chr7:109406019-109406020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141544236	chr7:109406045-109406046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150871806	chr7:109406077-109406078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554617949	chr7:109406101-109406102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10280961	chr7:109406117-109406118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200971876	chr7:109406126-109406127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564055572	chr7:109406135-109406136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572874286	chr7:109406155-109406156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532332408	chr7:109406183-109406184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575787541	chr7:109406207-109406208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190894280	chr7:109406211-109406212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564390008	chr7:109406222-109406223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533465631	chr7:109406236-109406237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540198108	chr7:109406285-109406286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75133018	chr7:109406343-109406344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540359227	chr7:109406395-109406396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202149903	chr7:109406436-109406437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529298613	chr7:109406437-109406438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541030603	chr7:109406457-109406458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180892734	chr7:109406517-109406518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77711749	chr7:109406522-109406523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532186236	chr7:109406541-109406542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12705632	chr7:109406648-109406649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs371067022	chr7:109406652-109406653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186311599	chr7:109406669-109406670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554138082	chr7:109406676-109406677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563836202	chr7:109406678-109406679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535912042	chr7:109406690-109406691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34291727	chr7:109406726-109406727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556181392	chr7:109406761-109406762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576057160	chr7:109406838-109406839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544370564	chr7:109406880-109406881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557943768	chr7:109406881-109406882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534423844	chr7:109406882-109406883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372024654	chr7:109406908-109406909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563475724	chr7:109406946-109406947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540501603	chr7:109406959-109406960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199725589	chr7:109406961-109406962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554432356	chr7:109406971-109406972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142224950	chr7:109406979-109406980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146487036	chr7:109406982-109406983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191358123	chr7:109406991-109406992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150065706	chr7:109407011-109407012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182854823	chr7:109407048-109407049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109401400-109406200	Weak transcription	Dnd41	blood
2	chr7:109403800-109407600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:109408800-109410400	Weak transcription	Dnd41	blood
4	chr7:109410400-109410800	Enhancers	Dnd41	blood
5	chr7:109410800-109412400	Weak transcription	Dnd41	blood
6	chr7:109412200-109412800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:109412400-109412600	Enhancers	Dnd41	blood
8	chr7:109412400-109412800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:109412400-109413200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:109415600-109416800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:109419400-109419600	Enhancers	Dnd41	blood
12	chr7:109419600-109420600	Weak transcription	Dnd41	blood
13	chr7:109420600-109422600	Enhancers	Dnd41	blood
14	chr7:109422600-109422800	Flanking Active TSS	Dnd41	blood
15	chr7:109422800-109423000	Enhancers	Dnd41	blood
16	chr7:109423000-109423200	Flanking Active TSS	Dnd41	blood
17	chr7:109423200-109425600	Enhancers	Dnd41	blood
18	chr7:109434600-109435200	ZNF genes & repeats	Dnd41	blood
19	chr7:109435000-109435400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:109435200-109435800	Weak transcription	Dnd41	blood
21	chr7:109435800-109436000	Enhancers	Dnd41	blood

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