Variant report

Variant	esv3351383
Chromosome Location	chr4:3731454-3733452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000184160	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548472629	chr4:3731459-3731460	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183709453	chr4:3731462-3731463	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189642880	chr4:3731517-3731518	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530106746	chr4:3731528-3731529	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143022423	chr4:3731531-3731532	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565845542	chr4:3731591-3731592	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533737008	chr4:3731609-3731610	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs71595704	chr4:3731620-3731621	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569990669	chr4:3731753-3731754	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs182361357	chr4:3731762-3731763	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73072595	chr4:3731763-3731764	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571151452	chr4:3731764-3731765	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571525003	chr4:3731770-3731771	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187013058	chr4:3731785-3731786	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111780375	chr4:3731822-3731823	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573792333	chr4:3731826-3731827	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542689109	chr4:3731846-3731847	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538241314	chr4:3731852-3731853	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570596426	chr4:3731853-3731854	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553321863	chr4:3731880-3731881	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573385252	chr4:3731918-3731919	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374446927	chr4:3731921-3731922	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545420263	chr4:3731939-3731940	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565583883	chr4:3731958-3731959	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531063879	chr4:3731962-3731963	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139960175	chr4:3731966-3731967	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7667433	chr4:3732011-3732012	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7667581	chr4:3732033-3732034	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs77161633	chr4:3732037-3732038	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565775685	chr4:3732060-3732061	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528298174	chr4:3732070-3732071	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs551239072	chr4:3732085-3732086	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2748753	chr4:3732090-3732091	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537305187	chr4:3732106-3732107	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs557028184	chr4:3732152-3732153	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs1894440	chr4:3732202-3732203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1894439	chr4:3732296-3732297	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1894438	chr4:3732317-3732318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112491340	chr4:3732409-3732410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553024812	chr4:3732442-3732443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7654509	chr4:3732452-3732453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374305200	chr4:3732497-3732498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150666315	chr4:3732544-3732545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558701073	chr4:3732562-3732563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575548120	chr4:3732608-3732609	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs575514870	chr4:3732610-3732611	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs560993165	chr4:3732617-3732618	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs546127113	chr4:3732619-3732620	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs574765821	chr4:3732632-3732633	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs540221319	chr4:3732662-3732663	Weak transcription Enhancers 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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3724400-3731600	Weak transcription	Aorta	Aorta
2	chr4:3724800-3732800	Weak transcription	Right Atrium	heart
3	chr4:3729200-3735400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:3729600-3732400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:3730400-3733600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:3730800-3734800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:3731200-3732000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr4:3731200-3732000	Enhancers	HSMMtube	muscle
9	chr4:3731400-3731600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:3731400-3731600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:3731400-3731800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr4:3731400-3731800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:3731400-3731800	Enhancers	A549	lung
14	chr4:3731400-3732000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:3731400-3732000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:3731400-3732200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
17	chr4:3731400-3732200	Enhancers	HSMM	muscle
18	chr4:3731400-3733200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:3731400-3733200	Enhancers	Fetal Muscle Leg	muscle
20	chr4:3731600-3731800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:3731600-3732000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:3731600-3732000	Enhancers	Aorta	Aorta
23	chr4:3731800-3733600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr4:3732000-3733400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:3732400-3732800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:3732600-3732800	Bivalent Enhancer	Left Ventricle	heart
27	chr4:3732600-3733200	Enhancers	Fetal Heart	heart
28	chr4:3732600-3733600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr4:3732600-3733800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr4:3732800-3733000	Enhancers	Right Atrium	heart
31	chr4:3732800-3734000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr4:3733000-3733400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr4:3733000-3742800	Weak transcription	Right Atrium	heart
34	chr4:3733200-3733400	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr4:3733200-3733600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:3733400-3734200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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