Variant report

Variant	esv3415117
Chromosome Location	chr7:65751617-65759115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145846069	chr7:65751647-65751648	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148930291	chr7:65751657-65751658	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368872291	chr7:65751664-65751665	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548789818	chr7:65751692-65751693	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184575680	chr7:65751722-65751723	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534323055	chr7:65751756-65751757	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200363351	chr7:65751800-65751801	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368244501	chr7:65751802-65751803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201138535	chr7:65751803-65751804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367775530	chr7:65751804-65751805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200560266	chr7:65751805-65751806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368737999	chr7:65751806-65751807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201712543	chr7:65751807-65751808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201686143	chr7:65751808-65751809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369596217	chr7:65751810-65751811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398004997	chr7:65751817-65751818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377549235	chr7:65751819-65751820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375381743	chr7:65751820-65751821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370133638	chr7:65751824-65751825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9647880	chr7:65751830-65751831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs28488978	chr7:65751831-65751832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571570332	chr7:65751845-65751846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55778297	chr7:65751986-65751987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13307016	chr7:65752194-65752195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537265290	chr7:65752226-65752227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13309920	chr7:65752258-65752259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557103402	chr7:65752290-65752291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10950034	chr7:65752537-65752538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200979294	chr7:65752551-65752552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574128218	chr7:65752588-65752589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545365844	chr7:65752613-65752614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373217461	chr7:65752614-65752615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377113454	chr7:65752808-65752809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369842558	chr7:65752869-65752870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553179127	chr7:65752928-65752929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573236158	chr7:65753001-65753002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201891865	chr7:65753168-65753169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199630506	chr7:65753351-65753352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200335877	chr7:65753887-65753888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201750954	chr7:65753894-65753895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200878082	chr7:65754007-65754008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201647746	chr7:65754156-65754157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200497788	chr7:65754238-65754239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201618874	chr7:65755040-65755041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199693552	chr7:65755155-65755156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200419581	chr7:65755455-65755456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201299277	chr7:65755479-65755480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545374431	chr7:65755592-65755593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199828400	chr7:65756034-65756035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535005860	chr7:65757159-65757160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65747200-65754000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:65747800-65766600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:65748400-65762000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:65749000-65761000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:65749200-65758200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:65749200-65760400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:65749200-65760400	Weak transcription	HMEC	breast
8	chr7:65749200-65760400	Weak transcription	Osteobl	bone
9	chr7:65749200-65760800	Weak transcription	HSMM	muscle
10	chr7:65751000-65751800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:65751400-65751800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:65751400-65751800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:65751400-65760600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:65751600-65760600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:65751800-65753400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:65751800-65758200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:65751800-65760200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:65757400-65758000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr7:65757600-65758000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:65757600-65758200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:65757800-65758200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:65757800-65762200	Weak transcription	Fetal Intestine Small	intestine
23	chr7:65758200-65758600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:65758200-65758600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:65758600-65760200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:65758600-65761400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:65758600-65762000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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