Variant report

Variant	esv3436337
Chromosome Location	chr4:3731904-3733002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3729899..3732092-chr4:3767208..3768839,2	MCF-7	breast:
2	chr4:3732579..3734832-chr4:3738622..3741256,2	K562	blood:
3	chr4:3731474..3733507-chr4:3734661..3736771,2	K562	blood:
4	chr4:3731863..3733557-chr4:3747295..3749837,2	MCF-7	breast:
5	chr4:3732007..3734071-chr4:3734519..3736771,2	K562	blood:

Variant related genes	Relation type
ENSG00000184160	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573385252	chr4:3731918-3731919	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374446927	chr4:3731921-3731922	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545420263	chr4:3731939-3731940	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565583883	chr4:3731958-3731959	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531063879	chr4:3731962-3731963	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139960175	chr4:3731966-3731967	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7667433	chr4:3732011-3732012	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7667581	chr4:3732033-3732034	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77161633	chr4:3732037-3732038	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565775685	chr4:3732060-3732061	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528298174	chr4:3732070-3732071	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551239072	chr4:3732085-3732086	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2748753	chr4:3732090-3732091	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537305187	chr4:3732106-3732107	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs557028184	chr4:3732152-3732153	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs1894440	chr4:3732202-3732203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1894439	chr4:3732296-3732297	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1894438	chr4:3732317-3732318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112491340	chr4:3732409-3732410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553024812	chr4:3732442-3732443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7654509	chr4:3732452-3732453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs374305200	chr4:3732497-3732498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150666315	chr4:3732544-3732545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558701073	chr4:3732562-3732563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575548120	chr4:3732608-3732609	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs575514870	chr4:3732610-3732611	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs560993165	chr4:3732617-3732618	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs546127113	chr4:3732619-3732620	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs574765821	chr4:3732632-3732633	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs540221319	chr4:3732662-3732663	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs35028958	chr4:3732664-3732665	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs139886432	chr4:3732708-3732709	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs190016175	chr4:3732717-3732718	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs551566450	chr4:3732728-3732729	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs377090551	chr4:3732752-3732753	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs565055861	chr4:3732757-3732758	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs116498772	chr4:3732761-3732762	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs34232563	chr4:3732766-3732767	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs115939192	chr4:3732781-3732782	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs567314555	chr4:3732783-3732784	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs536255276	chr4:3732855-3732856	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs546234001	chr4:3732861-3732862	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs566584550	chr4:3732870-3732871	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs149841249	chr4:3732911-3732912	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs146883480	chr4:3732913-3732914	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs575412422	chr4:3732914-3732915	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs2748752	chr4:3732981-3732982	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3724800-3732800	Weak transcription	Right Atrium	heart
2	chr4:3729200-3735400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:3729600-3732400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr4:3730400-3733600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:3730800-3734800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:3731200-3732000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:3731200-3732000	Enhancers	HSMMtube	muscle
8	chr4:3731400-3732000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:3731400-3732000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:3731400-3732200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
11	chr4:3731400-3732200	Enhancers	HSMM	muscle
12	chr4:3731400-3733200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:3731400-3733200	Enhancers	Fetal Muscle Leg	muscle
14	chr4:3731600-3732000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:3731600-3732000	Enhancers	Aorta	Aorta
16	chr4:3731800-3733600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:3732000-3733400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:3732400-3732800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:3732600-3732800	Bivalent Enhancer	Left Ventricle	heart
20	chr4:3732600-3733200	Enhancers	Fetal Heart	heart
21	chr4:3732600-3733600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr4:3732600-3733800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr4:3732800-3733000	Enhancers	Right Atrium	heart
24	chr4:3732800-3734000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr4:3733000-3733400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr4:3733000-3742800	Weak transcription	Right Atrium	heart

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