Variant report

Variant	esv3403422
Chromosome Location	chr4:3723704-3724752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3720840..3724300-chr4:3724381..3726602,3	MCF-7	breast:
2	chr4:3717857..3720056-chr4:3723644..3725873,2	MCF-7	breast:
3	chr4:3719651..3722174-chr4:3722524..3724517,2	K562	blood:
4	chr4:3720745..3724824-chr4:3727644..3730429,3	K562	blood:
5	chr4:3720840..3724300-chr4:3724381..3726602,3	MCF-7	breast:

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	rs2748758	chr4:3723715-3723716	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73792635	chr4:3723733-3723734	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs563333059	chr4:3723743-3723744	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs141853183	chr4:3723763-3723764	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs2748757	chr4:3723767-3723768	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs58380977	chr4:3723777-3723778	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371156163	chr4:3723781-3723782	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs187498651	chr4:3723816-3723817	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532851032	chr4:3723835-3723836	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528150233	chr4:3723836-3723837	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80082502	chr4:3723897-3723898	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7664380	chr4:3723918-3723919	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533561160	chr4:3723924-3723925	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7677689	chr4:3723941-3723942	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs62289455	chr4:3724061-3724062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7664760	chr4:3724080-3724081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184196662	chr4:3724084-3724085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371821912	chr4:3724125-3724126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550975542	chr4:3724133-3724134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371301777	chr4:3724139-3724140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374307080	chr4:3724148-3724149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112500793	chr4:3724198-3724199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566628556	chr4:3724230-3724231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62289456	chr4:3724246-3724247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11939146	chr4:3724254-3724255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147114656	chr4:3724255-3724256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543731480	chr4:3724321-3724322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556974229	chr4:3724348-3724349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377143902	chr4:3724365-3724366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192388114	chr4:3724377-3724378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559342818	chr4:3724401-3724402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117566477	chr4:3724402-3724403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578236669	chr4:3724441-3724442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565512109	chr4:3724449-3724450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530989867	chr4:3724460-3724461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551302994	chr4:3724479-3724480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2857973	chr4:3724503-3724504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530373792	chr4:3724537-3724538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554317988	chr4:3724567-3724568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566495382	chr4:3724593-3724594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs137862215	chr4:3724622-3724623	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs112728576	chr4:3724676-3724677	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs571469913	chr4:3724691-3724692	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs536846647	chr4:3724716-3724717	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs190500591	chr4:3724743-3724744	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs573853995	chr4:3724744-3724745	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3722600-3725000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:3722800-3723800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr4:3723000-3724000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:3723200-3723800	Enhancers	HSMMtube	muscle
5	chr4:3723400-3723800	Bivalent Enhancer	Brain Germinal Matrix	brain
6	chr4:3723600-3723800	Bivalent Enhancer	Brain Angular Gyrus	brain
7	chr4:3723600-3723800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
8	chr4:3723600-3723800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
9	chr4:3723600-3724400	Enhancers	Aorta	Aorta
10	chr4:3723800-3726600	Weak transcription	HSMMtube	muscle
11	chr4:3724000-3724600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:3724400-3731600	Weak transcription	Aorta	Aorta
13	chr4:3724600-3724800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
14	chr4:3724600-3725000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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