Variant report

Variant	nsv518864
Chromosome Location	chr7:85147760-85148963
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	chr7:85144834..85146430-chr7:85147566..85149706,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17328908	chr7:85147760-85147761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191681164	chr7:85147776-85147777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73703679	chr7:85147777-85147778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181700550	chr7:85147789-85147790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142143851	chr7:85147904-85147905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539635941	chr7:85147921-85147922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77046766	chr7:85147925-85147926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576307023	chr7:85147939-85147940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149957820	chr7:85147969-85147970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10257889	chr7:85147986-85147987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537733572	chr7:85147997-85147998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573706180	chr7:85148055-85148056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2463692	chr7:85148105-85148106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574065641	chr7:85148116-85148117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112060551	chr7:85148124-85148125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559589222	chr7:85148125-85148126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561844278	chr7:85148137-85148138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78131417	chr7:85148177-85148178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552068814	chr7:85148194-85148195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564299019	chr7:85148225-85148226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531605703	chr7:85148234-85148235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367728345	chr7:85148268-85148269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549647179	chr7:85148269-85148270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547619376	chr7:85148272-85148273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548601442	chr7:85148276-85148277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111493714	chr7:85148284-85148285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77625406	chr7:85148306-85148307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111902442	chr7:85148308-85148309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544719148	chr7:85148351-85148352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553409380	chr7:85148382-85148383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547410372	chr7:85148389-85148390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532943371	chr7:85148391-85148392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565623798	chr7:85148394-85148395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111659659	chr7:85148419-85148420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557904461	chr7:85148426-85148427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185666710	chr7:85148435-85148436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537304946	chr7:85148458-85148459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555643431	chr7:85148459-85148460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571808839	chr7:85148490-85148491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574321121	chr7:85148507-85148508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375922748	chr7:85148521-85148522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2463693	chr7:85148529-85148530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10274108	chr7:85148533-85148534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545624708	chr7:85148582-85148583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113402262	chr7:85148628-85148629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545503708	chr7:85148660-85148661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76533857	chr7:85148662-85148663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576194082	chr7:85148687-85148688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78653760	chr7:85148720-85148721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543692498	chr7:85148773-85148774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85146400-85150800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:85146600-85150600	Weak transcription	Fetal Kidney	kidney

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