Variant report

Variant	esv3342037
Chromosome Location	chr4:7166690-7167014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13126138	chr4:7166692-7166693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542291360	chr4:7166707-7166708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13106584	chr4:7166727-7166728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs13126171	chr4:7166734-7166735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575259565	chr4:7166781-7166782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199571141	chr4:7166787-7166788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200710416	chr4:7166788-7166789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs36153240	chr4:7166792-7166793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547749989	chr4:7166793-7166794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113283179	chr4:7166824-7166825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13106804	chr4:7166825-7166826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111925604	chr4:7166857-7166858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71600733	chr4:7166862-7166863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113183504	chr4:7166863-7166864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545822300	chr4:7166864-7166865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13101337	chr4:7166890-7166891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13101344	chr4:7166901-7166902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570015784	chr4:7166902-7166903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200699858	chr4:7166915-7166916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74200003	chr4:7166938-7166939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76650996	chr4:7166939-7166940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13126852	chr4:7166982-7166983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13125331	chr4:7166995-7166996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200113386	chr4:7167006-7167007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7105800-7176000	Weak transcription	Right Atrium	heart
2	chr4:7161000-7172800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:7162800-7172800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:7163000-7168000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:7163400-7167400	Weak transcription	Fetal Intestine Small	intestine
6	chr4:7163600-7168800	Weak transcription	Liver	Liver
7	chr4:7163800-7168800	Weak transcription	Fetal Stomach	stomach
8	chr4:7164000-7167400	Weak transcription	Fetal Intestine Large	intestine
9	chr4:7164000-7168600	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:7164400-7168200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:7164800-7169200	Weak transcription	Pancreas	Pancrea
12	chr4:7167000-7167800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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