Variant report

Variant	esv3467558
Chromosome Location	chr4:10390454-10396052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:10370932..10373880-chr4:10390683..10392321,2	K562	blood:
2	chr4:10385942..10388810-chr4:10389542..10391176,2	K562	blood:
3	chr4:10391155..10393700-chr4:10401011..10403355,4	MCF-7	breast:
4	chr4:10179643..10181436-chr4:10389855..10391388,2	K562	blood:
5	chr4:10390019..10393146-chr4:10400722..10404569,4	K562	blood:
6	chr4:10117806..10121732-chr4:10389330..10392612,4	K562	blood:

Variant related genes	Relation type
ENSG00000071127	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187580053	chr4:10390454-10390455	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140748421	chr4:10390461-10390462	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs193292294	chr4:10390465-10390466	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183803868	chr4:10390478-10390479	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150391089	chr4:10390514-10390515	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113328484	chr4:10390529-10390530	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377515644	chr4:10390565-10390566	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs55838007	chr4:10390585-10390586	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs552650100	chr4:10390590-10390591	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188769313	chr4:10390610-10390611	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369492900	chr4:10390616-10390617	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149579707	chr4:10390668-10390669	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375164054	chr4:10390671-10390672	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568760144	chr4:10390672-10390673	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564430497	chr4:10390695-10390696	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539948540	chr4:10390759-10390760	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374618688	chr4:10390765-10390766	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528043265	chr4:10390788-10390789	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs144297812	chr4:10390807-10390808	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368080998	chr4:10390839-10390840	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192248427	chr4:10390842-10390843	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535315972	chr4:10390850-10390851	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76111783	chr4:10390870-10390871	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575190309	chr4:10390962-10390963	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184402916	chr4:10390975-10390976	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563744444	chr4:10390993-10390994	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs6830236	chr4:10391009-10391010	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs76501277	chr4:10391067-10391068	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539175516	chr4:10391083-10391084	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559664037	chr4:10391097-10391098	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35027630	chr4:10391161-10391162	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188716946	chr4:10391164-10391165	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542092000	chr4:10391165-10391166	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563999695	chr4:10391186-10391187	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs62288480	chr4:10391208-10391209	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs191627768	chr4:10391226-10391227	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114006895	chr4:10391231-10391232	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184674197	chr4:10391234-10391235	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528567534	chr4:10391287-10391288	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546682322	chr4:10391292-10391293	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568493532	chr4:10391328-10391329	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189141154	chr4:10391369-10391370	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112236893	chr4:10391402-10391403	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182542678	chr4:10391418-10391419	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568767960	chr4:10391533-10391534	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142796408	chr4:10391571-10391572	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571457224	chr4:10391585-10391586	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs74709877	chr4:10391602-10391603	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539875799	chr4:10391613-10391614	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs55767872	chr4:10391618-10391619	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	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
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10387000-10403600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:10387800-10391800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:10387800-10397000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:10390000-10391000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:10390000-10391600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:10390000-10392200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:10390200-10392200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:10390200-10392400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:10390400-10391400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:10391000-10391400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:10391000-10391800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:10391400-10392000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:10391800-10392000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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