Variant report

Variant	esv3333041
Chromosome Location	chr4:3861554-3865952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3772704..3774388-chr4:3864723..3867236,2	K562	blood:
2	chr4:3860535..3862546-chr4:3862623..3864292,2	K562	blood:
3	chr4:3854042..3856140-chr4:3860203..3862673,2	K562	blood:
4	chr4:3860115..3861848-chr4:3869846..3871823,2	MCF-7	breast:
5	chr4:3855293..3857600-chr4:3858375..3861792,3	MCF-7	breast:
6	chr4:3826762..3828884-chr4:3861993..3864451,2	MCF-7	breast:
7	chr4:3827867..3829717-chr4:3860178..3862948,2	MCF-7	breast:
8	chr4:3860535..3862546-chr4:3862623..3864292,2	K562	blood:

Extended variants
information (count: 267 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537706643	chr4:3861565-3861566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28633368	chr4:3861566-3861567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190946554	chr4:3861576-3861577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28594196	chr4:3861577-3861578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529031343	chr4:3861601-3861602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376559119	chr4:3861628-3861629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182844212	chr4:3861642-3861643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs60194208	chr4:3861644-3861645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573282949	chr4:3861660-3861661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138605026	chr4:3861675-3861676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545210687	chr4:3861685-3861686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28517615	chr4:3861710-3861711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575553345	chr4:3861721-3861722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543284852	chr4:3861760-3861761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563255565	chr4:3861770-3861771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114588917	chr4:3861812-3861813	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs386670796	chr4:3861840-3861841	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs34499258	chr4:3861865-3861866	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567098283	chr4:3861902-3861903	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs144531578	chr4:3861911-3861912	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs71962279	chr4:3861914-3861915	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs78801296	chr4:3861918-3861919	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs78448014	chr4:3861924-3861925	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs77274249	chr4:3861925-3861926	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs551191969	chr4:3861945-3861946	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs373086132	chr4:3861957-3861958	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs571197365	chr4:3861962-3861963	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs187443737	chr4:3861963-3861964	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs550632201	chr4:3861971-3861972	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs28687289	chr4:3861985-3861986	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113159477	chr4:3861990-3861991	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs530953838	chr4:3862000-3862001	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs553591979	chr4:3862028-3862029	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs573363429	chr4:3862054-3862055	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs539075490	chr4:3862061-3862062	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs28522259	chr4:3862072-3862073	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs115383838	chr4:3862094-3862095	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs144581202	chr4:3862109-3862110	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs61235913	chr4:3862129-3862130	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs573589509	chr4:3862186-3862187	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs542522653	chr4:3862204-3862205	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs28585974	chr4:3862247-3862248	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528299517	chr4:3862253-3862254	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs73088797	chr4:3862259-3862260	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs28663407	chr4:3862272-3862273	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs193263090	chr4:3862287-3862288	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs550590650	chr4:3862299-3862300	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs565533474	chr4:3862315-3862316	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs148483604	chr4:3862339-3862340	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs141906726	chr4:3862354-3862355	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3854600-3863800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:3855000-3863600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:3855800-3863600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:3860000-3863400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:3860400-3863400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:3860400-3864800	Weak transcription	Right Atrium	heart
7	chr4:3860600-3861800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:3861000-3861600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:3861000-3864400	Weak transcription	Spleen	Spleen
10	chr4:3861600-3864000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:3861800-3863000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr4:3861800-3864000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:3862000-3862200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr4:3863000-3863200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:3863200-3864600	Bivalent Enhancer	HepG2	liver
16	chr4:3863400-3863600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr4:3863400-3863800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:3863400-3865600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:3863600-3863800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr4:3863600-3863800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr4:3863600-3863800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr4:3863600-3863800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:3863600-3864000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
24	chr4:3863600-3864000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:3863600-3864000	Bivalent/Poised TSS	Fetal Kidney	kidney
26	chr4:3863600-3864200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr4:3863600-3864800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr4:3863800-3864000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:3863800-3864000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:3863800-3864000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
31	chr4:3863800-3864000	Bivalent Enhancer	Fetal Heart	heart
32	chr4:3863800-3864000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
33	chr4:3863800-3864200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr4:3863800-3864200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:3863800-3864200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr4:3863800-3864200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:3863800-3864400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr4:3863800-3864400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr4:3863800-3865200	Enhancers	HUVEC	blood vessel
40	chr4:3864000-3864200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:3864000-3864200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr4:3864000-3864200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:3864000-3864400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:3864000-3864400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr4:3864000-3864400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:3864000-3864400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
47	chr4:3864000-3864400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr4:3864000-3864600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr4:3864000-3864600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:3864000-3864800	Active TSS	H9 Cell Line	embryonic stem cell

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