Variant report

Variant	esv3426446
Chromosome Location	chr4:7544102-7546900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7543788..7545988-chr4:7546899..7549006,2	K562	blood:
2	chr4:7540632..7544452-chr4:7547712..7552910,6	MCF-7	breast:
3	chr4:7543788..7545988-chr4:7546899..7549006,2	K562	blood:

Extended variants
information (count: 161 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs566382026	chr4:7544114-7544115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs138029062	chr4:7544135-7544136	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs555423303	chr4:7544161-7544162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs573759716	chr4:7544167-7544168	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs537679421	chr4:7544175-7544176	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs117599768	chr4:7544177-7544178	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs578161094	chr4:7544281-7544282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73797026	chr4:7544286-7544287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188964045	chr4:7544299-7544300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555042116	chr4:7544318-7544319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73075279	chr4:7544381-7544382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561449717	chr4:7544390-7544391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573639423	chr4:7544420-7544421	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs531914865	chr4:7544425-7544426	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs550209342	chr4:7544433-7544434	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs143392113	chr4:7544434-7544435	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs192455335	chr4:7544455-7544456	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs531620870	chr4:7544457-7544458	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs4315787	chr4:7544481-7544482	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566128791	chr4:7544502-7544503	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs34323219	chr4:7544503-7544504	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs35789691	chr4:7544512-7544513	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549245549	chr4:7544514-7544515	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs114548632	chr4:7544520-7544521	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs145746899	chr4:7544523-7544524	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs538019623	chr4:7544592-7544593	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs34018657	chr4:7544594-7544595	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs10028107	chr4:7544610-7544611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138409298	chr4:7544720-7544721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149322191	chr4:7544727-7544728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554254915	chr4:7544761-7544762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372144965	chr4:7544776-7544777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572447661	chr4:7544798-7544799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542687627	chr4:7544816-7544817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561589209	chr4:7544823-7544824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576685960	chr4:7544844-7544845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4365723	chr4:7544879-7544880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs565146353	chr4:7544889-7544890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532607955	chr4:7544908-7544909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144651788	chr4:7544995-7544996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368162524	chr4:7545006-7545007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76407338	chr4:7545012-7545013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527246329	chr4:7545041-7545042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371164116	chr4:7545069-7545070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548724272	chr4:7545086-7545087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184524520	chr4:7545095-7545096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113547342	chr4:7545096-7545097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531520111	chr4:7545131-7545132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550140729	chr4:7545135-7545136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113154599	chr4:7545140-7545141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7541000-7549000	Weak transcription	Brain Angular Gyrus	brain
2	chr4:7541200-7547400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:7541200-7549000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:7541400-7548200	Weak transcription	Ovary	ovary
5	chr4:7542000-7544200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:7542400-7548800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:7543000-7548000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:7544400-7544600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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