Variant report

Variant	nsv889179
Chromosome Location	chr7:125700894-125724789
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	chr7:125717773..125720293-chr7:125877157..125879096,2	K562	blood:

Extended variants
information (count: 299 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571875508	chr7:125712641-125712642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111291297	chr7:125712679-125712680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs719319	chr7:125712737-125712738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540247729	chr7:125712738-125712739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs719320	chr7:125712783-125712784	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs60902712	chr7:125712802-125712803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529359303	chr7:125712804-125712805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189961460	chr7:125712808-125712809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562697292	chr7:125712809-125712810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574607905	chr7:125712837-125712838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578064754	chr7:125712877-125712878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533469432	chr7:125712929-125712930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113655649	chr7:125712936-125712937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76358927	chr7:125712953-125712954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534645232	chr7:125713041-125713042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546278839	chr7:125713082-125713083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181181633	chr7:125713083-125713084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78658019	chr7:125713085-125713086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557193955	chr7:125713101-125713102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186143503	chr7:125713176-125713177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540384170	chr7:125713195-125713196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185241571	chr7:125716801-125716802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543193403	chr7:125716847-125716848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10272238	chr7:125716866-125716867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529381048	chr7:125716872-125716873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145617619	chr7:125716886-125716887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79727721	chr7:125716916-125716917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116783624	chr7:125716951-125716952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189568378	chr7:125716955-125716956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373031710	chr7:125716992-125716993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570142927	chr7:125716998-125716999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148889923	chr7:125717008-125717009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7784474	chr7:125717020-125717021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142607248	chr7:125717035-125717036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535273095	chr7:125717086-125717087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556086737	chr7:125717087-125717088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151277708	chr7:125717184-125717185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187015327	chr7:125717807-125717808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536702047	chr7:125717865-125717866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145923677	chr7:125717867-125717868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374188353	chr7:125717895-125717896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1582263	chr7:125717910-125717911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146705718	chr7:125717913-125717914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1582264	chr7:125717914-125717915	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs138932684	chr7:125717952-125717953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3038737	chr7:125717968-125717969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386411217	chr7:125717969-125717970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386411218	chr7:125717970-125717971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397836037	chr7:125717971-125717972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534298779	chr7:125718003-125718004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125712600-125713200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:125716800-125717000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:125717000-125717200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:125717800-125724200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:125719000-125719400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:125719000-125719600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:125719000-125719800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:125719000-125720000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:125719200-125719400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:125719200-125720200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:125719400-125719600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr7:125719400-125724400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:125719400-125731800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:125719600-125724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:125719600-125726000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:125724200-125724800	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr7:125724400-125725600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr7:125724600-125726200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell

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