Variant report

Variant	esv3408289
Chromosome Location	chr4:7339595-7340119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567249727	chr4:7339633-7339634	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs537545126	chr4:7339672-7339673	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs556181548	chr4:7339702-7339703	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs16840080	chr4:7339720-7339721	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538796259	chr4:7339723-7339724	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs146196149	chr4:7339728-7339729	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs572412952	chr4:7339744-7339745	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs139358057	chr4:7339745-7339746	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs561271319	chr4:7339750-7339751	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs368212498	chr4:7339805-7339806	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs576347028	chr4:7339810-7339811	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs200790605	chr4:7339812-7339813	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs192907732	chr4:7339816-7339817	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs532478769	chr4:7339821-7339822	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs547618373	chr4:7339830-7339831	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs67203824	chr4:7339832-7339833	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs372124963	chr4:7339836-7339837	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs55856603	chr4:7339837-7339838	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs59046584	chr4:7339838-7339839	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs71600740	chr4:7339856-7339857	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs56397458	chr4:7339858-7339859	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs28700095	chr4:7339866-7339867	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs56343599	chr4:7339877-7339878	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs55843530	chr4:7339882-7339883	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs55895015	chr4:7339884-7339885	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs56107920	chr4:7339888-7339889	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs202176320	chr4:7339889-7339890	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs56089742	chr4:7339898-7339899	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs140364453	chr4:7339900-7339901	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs530371437	chr4:7339904-7339905	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs144752132	chr4:7339907-7339908	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs58185145	chr4:7339933-7339934	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548425507	chr4:7339951-7339952	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs149832865	chr4:7339965-7339966	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs200473917	chr4:7339990-7339991	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs112083185	chr4:7340012-7340013	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs545948684	chr4:7340025-7340026	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs190184016	chr4:7340028-7340029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs111307663	chr4:7340044-7340045	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs73208495	chr4:7340068-7340069	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571357069	chr4:7340074-7340075	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs374001749	chr4:7340081-7340082	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs142973871	chr4:7340082-7340083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538730011	chr4:7340087-7340088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs201204582	chr4:7340103-7340104	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs7673518	chr4:7340115-7340116	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	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
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7335000-7339600	Weak transcription	Spleen	Spleen
2	chr4:7335600-7339600	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr4:7335600-7340600	Weak transcription	Fetal Intestine Small	intestine
4	chr4:7336000-7340800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:7336000-7346200	Weak transcription	NH-A	brain
6	chr4:7337200-7339800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:7337400-7342000	Weak transcription	Fetal Thymus	thymus
8	chr4:7337600-7339600	Weak transcription	Right Ventricle	heart
9	chr4:7337600-7343200	Weak transcription	Brain Angular Gyrus	brain
10	chr4:7338000-7339600	Weak transcription	Pancreas	Pancrea
11	chr4:7338000-7342200	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:7338000-7342800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:7338000-7344200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:7339200-7340000	Enhancers	Esophagus	oesophagus
15	chr4:7339200-7342000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:7339200-7342000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:7339200-7342000	Weak transcription	Brain Substantia Nigra	brain
18	chr4:7339200-7342200	Weak transcription	Brain Anterior Caudate	brain
19	chr4:7339600-7339800	Enhancers	Right Ventricle	heart
20	chr4:7339600-7340200	ZNF genes & repeats	Pancreas	Pancrea
21	chr4:7339600-7343200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:7339800-7342000	Weak transcription	Right Ventricle	heart

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