Variant report

Variant	esv3333686
Chromosome Location	chr4:1063595-1064200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:1036349..1037985-chr4:1063186..1065162,2	MCF-7	breast:
2	chr4:1061442..1063759-chr4:1126141..1128093,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC26A1-1	chr4:1063710-1064384	NONHSAT094656

Extended variants
information (count: 33 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556338837	chr4:1063629-1063630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577655502	chr4:1063694-1063695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181353714	chr4:1063742-1063743	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs185178151	chr4:1063746-1063747	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs112262402	chr4:1063760-1063761	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs539272869	chr4:1063765-1063766	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs113643775	chr4:1063774-1063775	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs549178219	chr4:1063784-1063785	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs554485681	chr4:1063785-1063786	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs560773770	chr4:1063788-1063789	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs528183446	chr4:1063801-1063802	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs6599280	chr4:1063818-1063819	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs11726968	chr4:1063827-1063828	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs11731238	chr4:1063833-1063834	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs11731239	chr4:1063836-1063837	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs574817025	chr4:1063852-1063853	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs570378105	chr4:1063905-1063906	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs537206999	chr4:1063949-1063950	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs555931830	chr4:1063952-1063953	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs149561628	chr4:1063970-1063971	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs535109099	chr4:1064005-1064006	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs553086205	chr4:1064041-1064042	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs55649159	chr4:1064065-1064066	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs188421145	chr4:1064080-1064081	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs376852126	chr4:1064101-1064102	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs545025124	chr4:1064111-1064112	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs563210675	chr4:1064129-1064130	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs142050215	chr4:1064156-1064157	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs112655611	chr4:1064169-1064170	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs56095683	chr4:1064170-1064171	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs60495884	chr4:1064185-1064186	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs57717353	chr4:1064186-1064187	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs572869186	chr4:1064196-1064197	Weak transcription	lncRNA	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1053400-1064200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:1062400-1064400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:1063600-1063800	Enhancers	Spleen	Spleen
4	chr4:1063800-1066800	Weak transcription	Spleen	Spleen
5	chr4:1064200-1064600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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