Variant report

Variant	esv3394338
Chromosome Location	chr4:7166875-7167372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13101337	chr4:7166890-7166891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13101344	chr4:7166901-7166902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570015784	chr4:7166902-7166903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200699858	chr4:7166915-7166916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74200003	chr4:7166938-7166939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76650996	chr4:7166939-7166940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13126852	chr4:7166982-7166983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13125331	chr4:7166995-7166996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200113386	chr4:7167006-7167007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74206680	chr4:7167020-7167021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13101605	chr4:7167033-7167034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7671606	chr4:7167038-7167039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535488278	chr4:7167044-7167045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7673196	chr4:7167058-7167059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71612264	chr4:7167071-7167072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369688376	chr4:7167082-7167083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553276547	chr4:7167084-7167085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571702112	chr4:7167086-7167087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542254857	chr4:7167090-7167091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7673216	chr4:7167096-7167097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7696953	chr4:7167120-7167121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543524764	chr4:7167121-7167122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373109040	chr4:7167147-7167148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562307551	chr4:7167152-7167153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529423675	chr4:7167157-7167158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77405008	chr4:7167163-7167164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532377274	chr4:7167164-7167165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7697116	chr4:7167178-7167179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376440880	chr4:7167185-7167186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371235622	chr4:7167187-7167188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71600734	chr4:7167191-7167192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71646688	chr4:7167195-7167196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200151051	chr4:7167196-7167197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75364893	chr4:7167201-7167202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374641680	chr4:7167202-7167203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71601827	chr4:7167207-7167208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7697143	chr4:7167217-7167218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114129606	chr4:7167220-7167221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199924911	chr4:7167221-7167222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115071831	chr4:7167224-7167225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74206019	chr4:7167251-7167252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552672845	chr4:7167256-7167257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570931740	chr4:7167257-7167258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148007729	chr4:7167262-7167263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs66527384	chr4:7167267-7167268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9760179	chr4:7167277-7167278	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs9759548	chr4:7167281-7167282	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554238730	chr4:7167320-7167321	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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links