Variant report

Variant	nsv970499
Chromosome Location	chr7:63339310-63344539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552293421	chr7:63339330-63339331	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538265004	chr7:63339363-63339364	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568747095	chr7:63339388-63339389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531237600	chr7:63339446-63339447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117611044	chr7:63339484-63339485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536753230	chr7:63339513-63339514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182783813	chr7:63339529-63339530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533700165	chr7:63339647-63339648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553689456	chr7:63339657-63339658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570673412	chr7:63339667-63339668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539542787	chr7:63339740-63339741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556652156	chr7:63339756-63339757	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576483976	chr7:63339757-63339758	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542264477	chr7:63339789-63339790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556061336	chr7:63339791-63339792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9654806	chr7:63339807-63339808	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541565715	chr7:63339841-63339842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577210382	chr7:63339924-63339925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs188326534	chr7:63339930-63339931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs564519352	chr7:63339935-63339936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs533611681	chr7:63339977-63339978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545561442	chr7:63339978-63339979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs147969073	chr7:63339988-63339989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531175797	chr7:63339999-63340000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs547792631	chr7:63340038-63340039	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs116340596	chr7:63340085-63340086	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570110418	chr7:63340123-63340124	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs539316860	chr7:63340160-63340161	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs527578187	chr7:63340182-63340183	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs547710329	chr7:63340210-63340211	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs559328579	chr7:63340257-63340258	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs7807593	chr7:63340268-63340269	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs116824739	chr7:63340309-63340310	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs549977160	chr7:63340385-63340386	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541585046	chr7:63340389-63340390	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs140441032	chr7:63340467-63340468	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs34787480	chr7:63340489-63340490	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554867838	chr7:63340503-63340504	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs535806729	chr7:63340534-63340535	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs555799727	chr7:63340581-63340582	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574617293	chr7:63340582-63340583	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs534994954	chr7:63340594-63340595	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558460538	chr7:63340602-63340603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs578091529	chr7:63340693-63340694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs75131236	chr7:63340706-63340707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs199644930	chr7:63340731-63340732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs112921744	chr7:63340761-63340762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs562205408	chr7:63340768-63340769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs575736921	chr7:63340770-63340771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs1996137	chr7:63340777-63340778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63335600-63341400	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr7:63336000-63340800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:63338600-63339800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:63339800-63343000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr7:63340000-63340600	Active TSS	Fetal Heart	heart
6	chr7:63340000-63342600	ZNF genes & repeats	Brain Anterior Caudate	brain
7	chr7:63341200-63343600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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