Variant report

Variant	nsv517676
Chromosome Location	chr7:87603743-87606246
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	chr7:87589891..87591551-chr7:87604698..87607050,2	MCF-7	breast:

Extended variants
information (count: 94 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1688886	chr7:87603743-87603744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146640120	chr7:87603755-87603756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545837634	chr7:87603756-87603757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117613837	chr7:87603757-87603758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527380160	chr7:87603761-87603762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368493154	chr7:87603792-87603793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531690773	chr7:87603804-87603805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141386132	chr7:87603824-87603825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561931929	chr7:87603828-87603829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529414909	chr7:87603861-87603862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548094032	chr7:87603870-87603871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371325732	chr7:87603900-87603901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566198643	chr7:87603907-87603908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184246940	chr7:87603932-87603933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77600908	chr7:87604012-87604013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552440463	chr7:87604013-87604014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139907125	chr7:87604022-87604023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55697820	chr7:87604085-87604086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75794813	chr7:87604127-87604128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78794446	chr7:87604129-87604130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1637495	chr7:87604188-87604189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs79020229	chr7:87604209-87604210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553241469	chr7:87604234-87604235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574118003	chr7:87604237-87604238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577851853	chr7:87604243-87604244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549825971	chr7:87604267-87604268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138812151	chr7:87604326-87604327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568310914	chr7:87604345-87604346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185857855	chr7:87604440-87604441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576164444	chr7:87604441-87604442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189838636	chr7:87604479-87604480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13234483	chr7:87604500-87604501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376341847	chr7:87604505-87604506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112503949	chr7:87604509-87604510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541222208	chr7:87604539-87604540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560033292	chr7:87604570-87604571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533452713	chr7:87604573-87604574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182406865	chr7:87604634-87604635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563256855	chr7:87604638-87604639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530483176	chr7:87604666-87604667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149385940	chr7:87604667-87604668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567323008	chr7:87604681-87604682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1688887	chr7:87604765-87604766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546475193	chr7:87604797-87604798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553380174	chr7:87604853-87604854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571547680	chr7:87604937-87604938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116645798	chr7:87604962-87604963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187084195	chr7:87604986-87604987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114161676	chr7:87604996-87604997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143697847	chr7:87605019-87605020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	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
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87591200-87610800	Weak transcription	Brain Anterior Caudate	brain
2	chr7:87594400-87618000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:87600200-87605200	Weak transcription	GM12878-XiMat	blood
4	chr7:87600400-87610800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:87601000-87607400	Weak transcription	Dnd41	blood
6	chr7:87605000-87631400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:87605200-87605800	ZNF genes & repeats	GM12878-XiMat	blood
8	chr7:87605800-87606200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:87605800-87606600	Weak transcription	GM12878-XiMat	blood

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