Variant report

Variant	esv3357912
Chromosome Location	chr7:63029017-63033415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 217 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568067589	chr7:63029019-63029020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7457579	chr7:63029065-63029066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370708950	chr7:63029087-63029088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527789443	chr7:63029094-63029095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183324593	chr7:63029120-63029121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570980801	chr7:63029132-63029133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538461525	chr7:63029170-63029171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556467488	chr7:63029176-63029177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532487974	chr7:63029196-63029197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570370846	chr7:63029201-63029202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187551191	chr7:63029209-63029210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554606246	chr7:63029210-63029211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574442612	chr7:63029218-63029219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540344053	chr7:63029223-63029224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7799819	chr7:63029226-63029227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548754253	chr7:63029236-63029237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553802707	chr7:63029245-63029246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576842429	chr7:63029248-63029249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546012143	chr7:63029296-63029297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562534056	chr7:63029299-63029300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531506058	chr7:63029300-63029301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541681630	chr7:63029309-63029310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561763476	chr7:63029322-63029323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527652207	chr7:63029349-63029350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200194823	chr7:63029369-63029370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202169005	chr7:63029374-63029375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533260683	chr7:63029388-63029389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550394441	chr7:63029399-63029400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191395396	chr7:63029405-63029406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536162128	chr7:63029406-63029407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370289909	chr7:63029421-63029422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556059367	chr7:63029422-63029423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568084641	chr7:63029428-63029429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7801231	chr7:63029456-63029457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554580846	chr7:63029466-63029467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575014451	chr7:63029471-63029472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533799552	chr7:63029472-63029473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553471730	chr7:63029487-63029488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576910801	chr7:63029497-63029498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545534848	chr7:63029528-63029529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556335126	chr7:63029529-63029530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184666167	chr7:63029534-63029535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541744686	chr7:63029547-63029548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561677970	chr7:63029548-63029549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527566826	chr7:63029558-63029559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187564240	chr7:63029583-63029584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192505360	chr7:63029584-63029585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533467930	chr7:63029621-63029622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549964478	chr7:63029680-63029681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546626052	chr7:63029732-63029733	Weak transcription	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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