Variant report

Variant	nsv518221
Chromosome Location	chr7:84905855-84911801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 258 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:258 , 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	rs2178115	chr7:84905855-84905856	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534158086	chr7:84905858-84905859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143108218	chr7:84905864-84905865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34529642	chr7:84905866-84905867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562234075	chr7:84905939-84905940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370274778	chr7:84905952-84905953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189282293	chr7:84905975-84905976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10232768	chr7:84905987-84905988	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144964185	chr7:84905994-84905995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528400193	chr7:84906031-84906032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190606978	chr7:84906043-84906044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7808114	chr7:84906063-84906064	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114890297	chr7:84906073-84906074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533082348	chr7:84906111-84906112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557179864	chr7:84906131-84906132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569294204	chr7:84906232-84906233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536266009	chr7:84906243-84906244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554976366	chr7:84906264-84906265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79046427	chr7:84906295-84906296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2696163	chr7:84906342-84906343	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559290331	chr7:84906365-84906366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555921930	chr7:84906463-84906464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112360668	chr7:84906469-84906470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192613195	chr7:84906491-84906492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563250860	chr7:84906504-84906505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7808888	chr7:84906508-84906509	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542339431	chr7:84906594-84906595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560975854	chr7:84906602-84906603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564947158	chr7:84906606-84906607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185611214	chr7:84906608-84906609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527297302	chr7:84906614-84906615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142295263	chr7:84906615-84906616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571163404	chr7:84906651-84906652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12112660	chr7:84906653-84906654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532186858	chr7:84906658-84906659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12112018	chr7:84906663-84906664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12112670	chr7:84906669-84906670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201233408	chr7:84906717-84906718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12113211	chr7:84906718-84906719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28419163	chr7:84906726-84906727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201888740	chr7:84906738-84906739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35993399	chr7:84906740-84906741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200086950	chr7:84906754-84906755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200577477	chr7:84906756-84906757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560953756	chr7:84906757-84906758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375383157	chr7:84906758-84906759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71523727	chr7:84906759-84906760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34646619	chr7:84906772-84906773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78432067	chr7:84906773-84906774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12704122	chr7:84906785-84906786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84902400-84906400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr7:84902600-84906400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:84902600-84906400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:84902800-84906400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:84904600-84906400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:84904600-84906400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:84905000-84906000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr7:84905000-84906200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:84905200-84906200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:84905200-84906400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:84905400-84906000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:84905400-84907000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:84905600-84906200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:84906200-84916000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:84909400-84910200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:84909800-84910200	Enhancers	Fetal Heart	heart
17	chr7:84910200-84911200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:84911200-84912000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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