Variant report

Variant	esv3445272
Chromosome Location	chr4:3581642-3582540
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3576753..3579179-chr4:3579407..3585070,6	K562	blood:
2	chr4:3533888..3535501-chr4:3581402..3583969,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163956	chromatin interactions
ENSG00000216560	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140995112	chr4:3581649-3581650	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs200715012	chr4:3581684-3581685	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs73086979	chr4:3581687-3581688	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs76889518	chr4:3581730-3581731	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs67480935	chr4:3581736-3581737	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546827597	chr4:3581737-3581738	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs560341611	chr4:3581758-3581759	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs62275447	chr4:3581761-3581762	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs532456589	chr4:3581792-3581793	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs73086981	chr4:3581816-3581817	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552152967	chr4:3581851-3581852	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs112380433	chr4:3581889-3581890	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199920649	chr4:3581890-3581891	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569117454	chr4:3581891-3581892	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs4689996	chr4:3581893-3581894	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs62275448	chr4:3581964-3581965	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs142292377	chr4:3582008-3582009	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146331411	chr4:3582023-3582024	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs141854257	chr4:3582026-3582027	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113494480	chr4:3582027-3582028	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs371321519	chr4:3582030-3582031	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs374220755	chr4:3582034-3582035	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs377746613	chr4:3582038-3582039	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371152513	chr4:3582040-3582041	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374882224	chr4:3582041-3582042	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs34444568	chr4:3582043-3582044	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs367906537	chr4:3582046-3582047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs367545519	chr4:3582047-3582048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs113852419	chr4:3582067-3582068	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs547776794	chr4:3582072-3582073	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs112340909	chr4:3582073-3582074	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs10004590	chr4:3582074-3582075	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs371383430	chr4:3582077-3582078	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs533600434	chr4:3582078-3582079	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs10004593	chr4:3582082-3582083	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs367982603	chr4:3582083-3582084	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs4689995	chr4:3582084-3582085	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs9286702	chr4:3582094-3582095	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs570925250	chr4:3582103-3582104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113282312	chr4:3582106-3582107	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs374946448	chr4:3582116-3582117	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs111668697	chr4:3582133-3582134	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs556608873	chr4:3582137-3582138	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs112869709	chr4:3582158-3582159	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs368011699	chr4:3582170-3582171	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs376378602	chr4:3582171-3582172	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs200648212	chr4:3582172-3582173	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs572168345	chr4:3582205-3582206	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs34752358	chr4:3582206-3582207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs572576063	chr4:3582216-3582217	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3579400-3582200	Weak transcription	HepG2	liver
2	chr4:3580400-3582600	Weak transcription	Fetal Intestine Large	intestine
3	chr4:3580600-3582400	Weak transcription	Fetal Intestine Small	intestine
4	chr4:3581000-3582600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:3582200-3582800	Enhancers	HepG2	liver
6	chr4:3582400-3583200	ZNF genes & repeats	Brain Germinal Matrix	brain
7	chr4:3582400-3583400	ZNF genes & repeats	Fetal Intestine Small	intestine

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