Variant report

Variant	esv3355565
Chromosome Location	chr4:1087452-1092050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1085294..1087604-chr4:1093899..1095690,2	K562	blood:
2	chr4:1086221..1088731-chr4:1090765..1092594,2	MCF-7	breast:
3	chr4:1090535..1093016-chr4:1094804..1097177,2	MCF-7	breast:
4	chr4:1073585..1077671-chr4:1089546..1092795,3	MCF-7	breast:
5	chr4:1086221..1088731-chr4:1090765..1092594,2	MCF-7	breast:
6	chr4:1074111..1076189-chr4:1085996..1088070,2	K562	blood:

Variant related genes	Relation type
ENSG00000251639	chromatin interactions
ENSG00000178222	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:297 , 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	rs565308225	chr4:1087457-1087458	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs532434311	chr4:1087470-1087471	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs60035268	chr4:1087487-1087488	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
4	rs562675797	chr4:1087508-1087509	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141944410	chr4:1087514-1087515	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs615381	chr4:1087531-1087532	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs182050138	chr4:1087555-1087556	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs527433673	chr4:1087577-1087578	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368128599	chr4:1087595-1087596	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs614945	chr4:1087617-1087618	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs73792266	chr4:1087666-1087667	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538908858	chr4:1087677-1087678	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557390624	chr4:1087725-1087726	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368346002	chr4:1087726-1087727	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547644592	chr4:1087739-1087740	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150642883	chr4:1087772-1087773	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558939919	chr4:1087774-1087775	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573353761	chr4:1087805-1087806	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375964086	chr4:1087818-1087819	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140326541	chr4:1087838-1087839	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374030388	chr4:1087840-1087841	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568095035	chr4:1087845-1087846	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs13106356	chr4:1087901-1087902	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs73792268	chr4:1087929-1087930	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544450201	chr4:1087999-1088000	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139725124	chr4:1088000-1088001	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373427911	chr4:1088008-1088009	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112116120	chr4:1088020-1088021	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569697468	chr4:1088044-1088045	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577159968	chr4:1088045-1088046	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527367850	chr4:1088046-1088047	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs551868217	chr4:1088088-1088089	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs544629859	chr4:1088143-1088144	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs377585172	chr4:1088193-1088194	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs537073428	chr4:1088219-1088220	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531210551	chr4:1088220-1088221	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs633954	chr4:1088272-1088273	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs569439848	chr4:1088292-1088293	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111757425	chr4:1088318-1088319	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548786654	chr4:1088364-1088365	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577230809	chr4:1088408-1088409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115219588	chr4:1088418-1088419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113406672	chr4:1088419-1088420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559097438	chr4:1088457-1088458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs584472	chr4:1088474-1088475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs144680141	chr4:1088527-1088528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537844944	chr4:1088534-1088535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377723734	chr4:1088585-1088586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556570196	chr4:1088589-1088590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574625160	chr4:1088618-1088619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Breast cancer	20932292	CNVD
Cancer	20164919	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1084200-1093400	Weak transcription	Ovary	ovary
2	chr4:1085000-1088400	Weak transcription	Spleen	Spleen
3	chr4:1085800-1088200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr4:1086000-1087600	Strong transcription	Pancreas	Pancrea
5	chr4:1086000-1098400	Weak transcription	Lung	lung
6	chr4:1086200-1091400	Weak transcription	Gastric	stomach
7	chr4:1086200-1098600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:1086600-1087800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:1087000-1088600	Enhancers	Fetal Muscle Leg	muscle
10	chr4:1087600-1090400	Weak transcription	Pancreas	Pancrea
11	chr4:1087800-1088000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:1087800-1088400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:1087800-1088400	Enhancers	Primary hematopoietic stem cells	blood
14	chr4:1088200-1088600	Enhancers	Fetal Muscle Trunk	muscle
15	chr4:1088400-1088600	Enhancers	Spleen	Spleen
16	chr4:1088400-1093400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:1088600-1093600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:1090400-1093400	Enhancers	Pancreas	Pancrea
19	chr4:1090600-1091000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr4:1090800-1091000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:1090800-1091000	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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