Variant report

Variant	nsv822427
Chromosome Location	chr4:809623-810738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:809375..810958-chr4:813347..815488,2	MCF-7	breast:
2	chr4:808238..810309-chr4:818113..820834,2	MCF-7	breast:
3	chr4:810119..812562-chr4:817081..819359,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168993	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547733793	chr4:809764-809765	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs9328758	chr4:809787-809788	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539069894	chr4:809804-809805	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557774263	chr4:809848-809849	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575943555	chr4:809870-809871	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185193525	chr4:809890-809891	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113839357	chr4:809975-809976	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555029665	chr4:809976-809977	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574709230	chr4:809977-809978	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565906586	chr4:809986-809987	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560418652	chr4:809990-809991	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34230814	chr4:810002-810003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190841825	chr4:810047-810048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs7688925	chr4:810093-810094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534791299	chr4:810100-810101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142833913	chr4:810108-810109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34604241	chr4:810125-810126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11724192	chr4:810148-810149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7660746	chr4:810151-810152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550311530	chr4:810162-810163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183118344	chr4:810167-810168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533370974	chr4:810231-810232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547573070	chr4:810241-810242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565726964	chr4:810302-810303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115720538	chr4:810351-810352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551363988	chr4:810355-810356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116208309	chr4:810373-810374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536615471	chr4:810410-810411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115070328	chr4:810447-810448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80308253	chr4:810460-810461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62294157	chr4:810462-810463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566977811	chr4:810466-810467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142797193	chr4:810492-810493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs59898624	chr4:810507-810508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186358393	chr4:810533-810534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535352810	chr4:810645-810646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:789600-816800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:808200-811000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:808600-810000	Enhancers	Fetal Intestine Large	intestine
4	chr4:808600-811600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:809200-809800	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr4:809200-810000	Enhancers	Liver	Liver
7	chr4:809200-810000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
8	chr4:809200-810000	Flanking Active TSS	HepG2	liver
9	chr4:809400-809800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr4:809400-809800	Bivalent Enhancer	A549	lung
11	chr4:809400-817200	Weak transcription	Brain Angular Gyrus	brain
12	chr4:809600-809800	Enhancers	Pancreas	Pancrea
13	chr4:809600-811000	Enhancers	Colon Smooth Muscle	Colon
14	chr4:810000-811000	Enhancers	HepG2	liver

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