Variant report

Variant	nsv970423
Chromosome Location	chr7:120081849-120085097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120076190..120079219-chr7:120081978..120085148,3	K562	blood:
2	chr7:120080252..120082102-chr7:120084168..120086812,2	K562	blood:
3	chr7:120080252..120082102-chr7:120084168..120086812,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554504085	chr7:120081851-120081852	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs577617576	chr7:120081856-120081857	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs73435806	chr7:120081939-120081940	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530485404	chr7:120081968-120081969	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs562759543	chr7:120081986-120081987	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372504284	chr7:120082101-120082102	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs541936613	chr7:120082125-120082126	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs561883058	chr7:120082216-120082217	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs147938167	chr7:120082250-120082251	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546435269	chr7:120082337-120082338	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs191129490	chr7:120082409-120082410	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs545614993	chr7:120082570-120082571	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532314616	chr7:120082599-120082600	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs552116954	chr7:120082652-120082653	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs562743798	chr7:120082657-120082658	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs183626139	chr7:120082703-120082704	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs141748010	chr7:120082710-120082711	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs554688198	chr7:120082782-120082783	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs568210282	chr7:120082950-120082951	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs200143506	chr7:120082966-120082967	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112253947	chr7:120082983-120082984	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs138304576	chr7:120083042-120083043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532026673	chr7:120083097-120083098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546201685	chr7:120083118-120083119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76276179	chr7:120083157-120083158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556844433	chr7:120083159-120083160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576344061	chr7:120083247-120083248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542251033	chr7:120083254-120083255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561841945	chr7:120083255-120083256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528402192	chr7:120083279-120083280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112747008	chr7:120083323-120083324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574773274	chr7:120083396-120083397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71569036	chr7:120083398-120083399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4730961	chr7:120083405-120083406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139962538	chr7:120083406-120083407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372814295	chr7:120083407-120083408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559929087	chr7:120083416-120083417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532408187	chr7:120083424-120083425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113833716	chr7:120083455-120083456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73435810	chr7:120083472-120083473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568424899	chr7:120083484-120083485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531196945	chr7:120083536-120083537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548213282	chr7:120083546-120083547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568123399	chr7:120083560-120083561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527711881	chr7:120083584-120083585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143011981	chr7:120083605-120083606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148224329	chr7:120083610-120083611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6949614	chr7:120083666-120083667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540061979	chr7:120083699-120083700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556571989	chr7:120083700-120083701	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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	21115979	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120081600-120083000	Flanking Active TSS	GM12878-XiMat	blood
2	chr7:120083000-120083200	Enhancers	GM12878-XiMat	blood
3	chr7:120083200-120083800	Weak transcription	GM12878-XiMat	blood
4	chr7:120083800-120084600	ZNF genes & repeats	GM12878-XiMat	blood
5	chr7:120085000-120085200	ZNF genes & repeats	GM12878-XiMat	blood

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