Variant report

Variant	esv3347892
Chromosome Location	chr4:9746154-9749052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 205 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:205 , 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	rs143618240	chr4:9746168-9746169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536955443	chr4:9746171-9746172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182406289	chr4:9746176-9746177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73221561	chr4:9746187-9746188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150571547	chr4:9746210-9746211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553827107	chr4:9746211-9746212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565673764	chr4:9746236-9746237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572230621	chr4:9746237-9746238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147260560	chr4:9746267-9746268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139610633	chr4:9746288-9746289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191110542	chr4:9746294-9746295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531840777	chr4:9746304-9746305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183207945	chr4:9746306-9746307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188690243	chr4:9746334-9746335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548256027	chr4:9746335-9746336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192979023	chr4:9746367-9746368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547995063	chr4:9746414-9746415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145441551	chr4:9746420-9746421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11943586	chr4:9746454-9746455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139100979	chr4:9746455-9746456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558589376	chr4:9746468-9746469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569672253	chr4:9746479-9746480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537096714	chr4:9746490-9746491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558558074	chr4:9746497-9746498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570751913	chr4:9746535-9746536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534491583	chr4:9746538-9746539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183656539	chr4:9746567-9746568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572169097	chr4:9746570-9746571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188085968	chr4:9746575-9746576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144016126	chr4:9746580-9746581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112890065	chr4:9746653-9746654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543830641	chr4:9746670-9746671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191616031	chr4:9746671-9746672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577486509	chr4:9746679-9746680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73221563	chr4:9746692-9746693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73221565	chr4:9746700-9746701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs4109086	chr4:9746715-9746716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373395621	chr4:9746720-9746721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529766618	chr4:9746729-9746730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202146617	chr4:9746734-9746735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548302076	chr4:9746753-9746754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563414129	chr4:9746757-9746758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140944092	chr4:9746787-9746788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111497949	chr4:9746790-9746791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183666558	chr4:9746791-9746792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570621068	chr4:9746821-9746822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534928513	chr4:9746823-9746824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375799847	chr4:9746829-9746830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188042678	chr4:9746830-9746831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535308923	chr4:9746852-9746853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Neuroblastoma	20406844	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9737400-9747400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:9739000-9747400	Weak transcription	Fetal Heart	heart
3	chr4:9744600-9747400	Weak transcription	Pancreas	Pancrea
4	chr4:9744800-9747400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:9747400-9747600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:9747400-9747600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr4:9747400-9747800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:9747400-9747800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:9747400-9747800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:9747400-9747800	ZNF genes & repeats	Fetal Heart	heart
11	chr4:9747400-9747800	Active TSS	Gastric	stomach
12	chr4:9747400-9747800	Genic enhancers	Pancreas	Pancrea
13	chr4:9747400-9748000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:9747400-9748000	ZNF genes & repeats	Fetal Kidney	kidney
15	chr4:9747800-9748200	Weak transcription	Pancreas	Pancrea
16	chr4:9747800-9755400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:9748000-9748400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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