Variant report

Variant	esv3423396
Chromosome Location	chr7:5841851-5844399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553621715	chr7:5841861-5841862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568626341	chr7:5841932-5841933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535914676	chr7:5841936-5841937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554552415	chr7:5841941-5841942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566540645	chr7:5841944-5841945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180811350	chr7:5841955-5841956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373932309	chr7:5841962-5841963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534136590	chr7:5841991-5841992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533897543	chr7:5841994-5841995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112858740	chr7:5841996-5841997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540674865	chr7:5841997-5841998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150029614	chr7:5842031-5842032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115841282	chr7:5842038-5842039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187593251	chr7:5842054-5842055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574987390	chr7:5842061-5842062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578133249	chr7:5842094-5842095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541928152	chr7:5842109-5842110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145369692	chr7:5842110-5842111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149195047	chr7:5842113-5842114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546524767	chr7:5842124-5842125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143370960	chr7:5842125-5842126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190383984	chr7:5842143-5842144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549966365	chr7:5842158-5842159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11979832	chr7:5842163-5842164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529755190	chr7:5842164-5842165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547962376	chr7:5842170-5842171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181735749	chr7:5842195-5842196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141537208	chr7:5842230-5842231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552483595	chr7:5842264-5842265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114311770	chr7:5842272-5842273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538089869	chr7:5842278-5842279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557609079	chr7:5842284-5842285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147048734	chr7:5842288-5842289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10278219	chr7:5842301-5842302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs71547794	chr7:5842305-5842306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34365558	chr7:5842322-5842323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553974434	chr7:5842323-5842324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115518621	chr7:5842369-5842370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369757244	chr7:5842370-5842371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545888625	chr7:5842385-5842386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376577238	chr7:5842393-5842394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560967886	chr7:5842395-5842396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576351601	chr7:5842400-5842401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574414115	chr7:5842401-5842402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572953258	chr7:5842420-5842421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561979708	chr7:5842431-5842432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529443565	chr7:5842436-5842437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113113612	chr7:5842445-5842446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559981025	chr7:5842466-5842467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527338145	chr7:5842467-5842468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Schizophrenia	21346763	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5841400-5849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:5842400-5843600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:5842600-5843200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:5843000-5844200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:5843200-5843600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:5843600-5844200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:5843600-5844600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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