Variant report

Variant	esv3409597
Chromosome Location	chr4:3792804-3795302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3787948..3790295-chr4:3791377..3794660,3	MCF-7	breast:
2	chr4:3794227..3795299-chr4:3881966..3882918,8	MCF-7	breast:
3	chr4:3784876..3787026-chr4:3792827..3794730,2	K562	blood:
4	chr4:3793914..3795939-chr4:3797893..3799883,2	K562	blood:
5	chr4:3793111..3794618-chr4:3797586..3799944,2	MCF-7	breast:
6	chr4:3792146..3793909-chr4:3797451..3800072,2	K562	blood:
7	chr4:3794231..3795030-chr4:3882116..3882816,2	MCF-7	breast:

Extended variants
information (count: 140 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10027635	chr4:3792806-3792807	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180800481	chr4:3792857-3792858	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs539738599	chr4:3792879-3792880	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs550488956	chr4:3792888-3792889	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs570133250	chr4:3792899-3792900	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs186519376	chr4:3792903-3792904	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs555546107	chr4:3792943-3792944	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs540862456	chr4:3792945-3792946	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs191014906	chr4:3792973-3792974	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs534972862	chr4:3792986-3792987	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs181720713	chr4:3792995-3792996	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs578100362	chr4:3793019-3793020	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs546105099	chr4:3793083-3793084	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs371384203	chr4:3793087-3793088	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs556450076	chr4:3793125-3793126	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs377451855	chr4:3793187-3793188	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs572399751	chr4:3793192-3793193	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs146424490	chr4:3793193-3793194	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs542023202	chr4:3793195-3793196	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs561588347	chr4:3793222-3793223	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs73078649	chr4:3793223-3793224	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540771015	chr4:3793224-3793225	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs186128509	chr4:3793237-3793238	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs7441835	chr4:3793239-3793240	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs35362918	chr4:3793262-3793263	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs7438935	chr4:3793266-3793267	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570346248	chr4:3793271-3793272	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs191391627	chr4:3793293-3793294	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs529429493	chr4:3793319-3793320	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs7436914	chr4:3793324-3793325	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566323900	chr4:3793348-3793349	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs535114352	chr4:3793350-3793351	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs7442616	chr4:3793368-3793369	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545904832	chr4:3793379-3793380	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs537473831	chr4:3793381-3793382	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs556149650	chr4:3793418-3793419	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs113071309	chr4:3793424-3793425	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs7436872	chr4:3793435-3793436	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113569740	chr4:3793450-3793451	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs140902609	chr4:3793474-3793475	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs7441756	chr4:3793497-3793498	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs28591486	chr4:3793547-3793548	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563864584	chr4:3793549-3793550	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs529714043	chr4:3793553-3793554	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs556214236	chr4:3793572-3793573	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs144712973	chr4:3793613-3793614	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs578134512	chr4:3793615-3793616	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs73078650	chr4:3793632-3793633	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529590736	chr4:3793641-3793642	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs183351703	chr4:3793678-3793679	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3783000-3793600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:3788800-3795400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:3790200-3793400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:3791600-3793600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr4:3792400-3793200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:3793200-3794200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:3793400-3793800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:3793400-3794600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:3793600-3794400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:3794000-3794600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr4:3794800-3795000	Enhancers	HUES6 Cell Line	embryonic stem cell

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