Variant report

Variant	esv3394524
Chromosome Location	chr7:109939666-109941714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78153448	chr7:109939666-109939667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567100208	chr7:109939754-109939755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200923800	chr7:109939758-109939759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183195929	chr7:109939762-109939763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556172591	chr7:109939765-109939766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73716146	chr7:109939774-109939775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73716148	chr7:109939795-109939796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571902791	chr7:109939805-109939806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558496036	chr7:109939814-109939815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572208489	chr7:109939830-109939831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113198191	chr7:109939834-109939835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186476280	chr7:109939855-109939856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148689252	chr7:109939857-109939858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377764241	chr7:109939858-109939859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563044829	chr7:109939941-109939942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532003798	chr7:109939966-109939967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551500812	chr7:109940009-109940010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73716150	chr7:109940015-109940016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113829362	chr7:109940020-109940021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538922775	chr7:109940027-109940028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142082600	chr7:109940031-109940032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150720984	chr7:109940032-109940033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73716151	chr7:109940042-109940043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191820005	chr7:109940050-109940051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543576691	chr7:109940085-109940086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75376988	chr7:109940086-109940087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538888877	chr7:109940092-109940093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574968937	chr7:109940111-109940112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139405467	chr7:109940114-109940115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75094074	chr7:109940138-109940139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73716152	chr7:109940154-109940155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73716153	chr7:109940160-109940161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183600256	chr7:109940170-109940171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542442428	chr7:109940214-109940215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563064350	chr7:109940222-109940223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145154206	chr7:109940260-109940261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73193200	chr7:109940330-109940331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187542250	chr7:109940406-109940407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527668739	chr7:109940425-109940426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147584788	chr7:109940481-109940482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536854053	chr7:109940483-109940484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35195918	chr7:109940498-109940499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs575708493	chr7:109940538-109940539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540441407	chr7:109940571-109940572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561392295	chr7:109940602-109940603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34493218	chr7:109940629-109940630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71958844	chr7:109940665-109940666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58172186	chr7:109940676-109940677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201293523	chr7:109940677-109940678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373903678	chr7:109940679-109940680	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109939600-109939800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:109939800-109940800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:109940800-109941000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:109941000-109941200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:109941400-109942600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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