Variant report

Variant	esv3349543
Chromosome Location	chr7:63029717-63032615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546626052	chr7:63029732-63029733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185059382	chr7:63029757-63029758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529478988	chr7:63029761-63029762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549576282	chr7:63029762-63029763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566409601	chr7:63029770-63029771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368798718	chr7:63029793-63029794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143113539	chr7:63029802-63029803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547416197	chr7:63029830-63029831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570312364	chr7:63029854-63029855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539536054	chr7:63029868-63029869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555959570	chr7:63029981-63029982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575711772	chr7:63030220-63030221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201004777	chr7:63030228-63030229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371151525	chr7:63030530-63030531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201288864	chr7:63030534-63030535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200792406	chr7:63030590-63030591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535302499	chr7:63030593-63030594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555135044	chr7:63030632-63030633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572057938	chr7:63030666-63030667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540919423	chr7:63030679-63030680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564512360	chr7:63030707-63030708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577923384	chr7:63030738-63030739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7789269	chr7:63030752-63030753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75420729	chr7:63030803-63030804	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs543916806	chr7:63030804-63030805	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563799636	chr7:63030846-63030847	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs529389366	chr7:63030852-63030853	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs549639532	chr7:63030854-63030855	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs559985299	chr7:63030857-63030858	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs142684826	chr7:63030863-63030864	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs528791638	chr7:63030888-63030889	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs551752954	chr7:63030910-63030911	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs6973524	chr7:63030911-63030912	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs570450270	chr7:63030912-63030913	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs539091943	chr7:63030916-63030917	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs549353000	chr7:63030975-63030976	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs569454755	chr7:63030996-63030997	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs535176503	chr7:63031027-63031028	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs555149150	chr7:63031044-63031045	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs572103103	chr7:63031054-63031055	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs373456835	chr7:63031077-63031078	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs534930454	chr7:63031097-63031098	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs557738085	chr7:63031098-63031099	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs10949822	chr7:63031119-63031120	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs543486058	chr7:63031120-63031121	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs563662118	chr7:63031125-63031126	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs574232078	chr7:63031126-63031127	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs543096820	chr7:63031127-63031128	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs558713968	chr7:63031140-63031141	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs560004037	chr7:63031175-63031176	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63028400-63030800	Weak transcription	Adipose Nuclei	Adipose
2	chr7:63030800-63031200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:63030800-63031200	Active TSS	Brain Cingulate Gyrus	brain
4	chr7:63030800-63031400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:63030800-63031400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr7:63030800-63031400	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr7:63030800-63031400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr7:63030800-63031400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
9	chr7:63030800-63031400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr7:63031000-63031200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:63031000-63031200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
12	chr7:63031000-63031400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:63031000-63031400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:63031000-63031400	ZNF genes & repeats	Fetal Lung	lung
15	chr7:63031000-63031400	ZNF genes & repeats	Pancreas	Pancrea
16	chr7:63031000-63031400	ZNF genes & repeats	Spleen	Spleen
17	chr7:63031000-63031600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
18	chr7:63031000-63031800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:63031000-63033600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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