Variant report

Variant	esv3430481
Chromosome Location	chr7:61096480-61096746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537709743	chr7:61096480-61096481	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372694986	chr7:61096490-61096491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199594325	chr7:61096491-61096492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556032287	chr7:61096500-61096501	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574791077	chr7:61096503-61096504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574441756	chr7:61096507-61096508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376718175	chr7:61096526-61096527	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535085492	chr7:61096527-61096528	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553743364	chr7:61096530-61096531	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151081749	chr7:61096534-61096535	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148964644	chr7:61096535-61096536	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148237825	chr7:61096536-61096537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545884015	chr7:61096540-61096541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138127160	chr7:61096542-61096543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565437106	chr7:61096551-61096552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183251719	chr7:61096557-61096558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562354907	chr7:61096560-61096561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544865080	chr7:61096564-61096565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563152735	chr7:61096565-61096566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530458031	chr7:61096570-61096571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112304175	chr7:61096590-61096591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79684185	chr7:61096592-61096593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75275688	chr7:61096593-61096594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541823982	chr7:61096605-61096606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12671728	chr7:61096611-61096612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551837612	chr7:61096613-61096614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527738327	chr7:61096614-61096615	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552263807	chr7:61096633-61096634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11135615	chr7:61096641-61096642	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs531402246	chr7:61096644-61096645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75998583	chr7:61096645-61096646	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12537486	chr7:61096648-61096649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567976622	chr7:61096651-61096652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535760970	chr7:61096653-61096654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192651021	chr7:61096659-61096660	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11135616	chr7:61096661-61096662	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539100561	chr7:61096662-61096663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547591778	chr7:61096670-61096671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376676348	chr7:61096677-61096678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113884126	chr7:61096679-61096680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567611015	chr7:61096685-61096686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568306930	chr7:61096696-61096697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76386957	chr7:61096700-61096701	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187615020	chr7:61096703-61096704	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575004422	chr7:61096704-61096705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542514665	chr7:61096708-61096709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192598188	chr7:61096717-61096718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77017995	chr7:61096718-61096719	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538322248	chr7:61096719-61096720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142324731	chr7:61096720-61096721	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Autism	18414403	CNVD
Colorectal cancer	16272173	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61087600-61098000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:61087800-61098000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr7:61091400-61098000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr7:61092200-61099600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:61093800-61097200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:61095400-61097000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:61096400-61097000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:61096600-61098000	ZNF genes & repeats	Liver	Liver

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