Variant report

Variant	esv3403733
Chromosome Location	chr7:109940166-109941414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183600256	chr7:109940170-109940171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542442428	chr7:109940214-109940215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563064350	chr7:109940222-109940223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145154206	chr7:109940260-109940261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73193200	chr7:109940330-109940331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187542250	chr7:109940406-109940407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527668739	chr7:109940425-109940426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147584788	chr7:109940481-109940482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536854053	chr7:109940483-109940484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35195918	chr7:109940498-109940499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575708493	chr7:109940538-109940539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540441407	chr7:109940571-109940572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561392295	chr7:109940602-109940603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34493218	chr7:109940629-109940630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71958844	chr7:109940665-109940666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58172186	chr7:109940676-109940677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201293523	chr7:109940677-109940678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373903678	chr7:109940679-109940680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71149577	chr7:109940680-109940681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71864979	chr7:109940683-109940684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10953657	chr7:109940684-109940685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200168923	chr7:109940686-109940687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199937440	chr7:109940707-109940708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573531629	chr7:109940717-109940718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549722901	chr7:109940733-109940734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79274460	chr7:109940790-109940791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538605379	chr7:109940816-109940817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs552439922	chr7:109940828-109940829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs116390126	chr7:109940839-109940840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs534606429	chr7:109940858-109940859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs77371100	chr7:109940861-109940862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs142566070	chr7:109940901-109940902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs73193202	chr7:109940903-109940904	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs556508369	chr7:109940923-109940924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs544147192	chr7:109940931-109940932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs145887865	chr7:109940938-109940939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs545416456	chr7:109940950-109940951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs368070207	chr7:109941022-109941023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565245760	chr7:109941034-109941035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572355166	chr7:109941037-109941038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541046896	chr7:109941048-109941049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560908988	chr7:109941099-109941100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530168478	chr7:109941104-109941105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149010035	chr7:109941114-109941115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370562678	chr7:109941153-109941154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563380876	chr7:109941162-109941163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371724459	chr7:109941178-109941179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532348334	chr7:109941179-109941180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367644788	chr7:109941187-109941188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143794349	chr7:109941195-109941196	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109939800-109940800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:109940800-109941000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:109941000-109941200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:109941400-109942600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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