Variant report

Variant	esv3467561
Chromosome Location	chr4:10394854-10402052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:10390019..10393146-chr4:10400722..10404569,4	K562	blood:
2	chr4:10184632..10187184-chr4:10400763..10402949,2	K562	blood:
3	chr4:10181802..10184742-chr4:10401642..10403855,2	K562	blood:
4	chr4:10117259..10123841-chr4:10401893..10417202,19	K562	blood:
5	chr4:10185450..10187184-chr4:10401056..10402949,2	K562	blood:
6	chr4:10180539..10184306-chr4:10401076..10403855,3	K562	blood:
7	chr4:10391155..10393700-chr4:10401011..10403355,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223086	chromatin interactions
ENSG00000071127	chromatin interactions

Extended variants
information (count: 278 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:278 , 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	rs150201793	chr4:10394859-10394860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115918515	chr4:10394872-10394873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565170245	chr4:10394895-10394896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577257342	chr4:10394896-10394897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139129812	chr4:10394899-10394900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73103097	chr4:10394922-10394923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529721437	chr4:10394974-10394975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575594472	chr4:10395005-10395006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183050485	chr4:10395040-10395041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143157779	chr4:10395046-10395047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546167598	chr4:10395062-10395063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151132108	chr4:10395081-10395082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367982868	chr4:10395082-10395083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146971212	chr4:10395093-10395094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550008503	chr4:10395103-10395104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571559846	chr4:10395146-10395147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187511895	chr4:10395173-10395174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80346784	chr4:10395174-10395175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191922848	chr4:10395178-10395179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566084719	chr4:10395179-10395180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536519768	chr4:10395264-10395265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564603699	chr4:10395277-10395278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78460092	chr4:10395318-10395319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71181024	chr4:10395363-10395364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555087307	chr4:10395367-10395368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397992235	chr4:10395376-10395377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200702325	chr4:10395377-10395378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10006210	chr4:10395384-10395385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184692649	chr4:10395407-10395408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558789476	chr4:10395439-10395440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370028890	chr4:10395448-10395449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575705171	chr4:10395449-10395450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559059052	chr4:10395457-10395458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187989784	chr4:10395481-10395482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541499724	chr4:10395499-10395500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192420313	chr4:10395507-10395508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138121071	chr4:10395561-10395562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149526776	chr4:10395571-10395572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565150740	chr4:10395576-10395577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73103098	chr4:10395592-10395593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548049668	chr4:10395599-10395600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557971130	chr4:10395606-10395607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566280030	chr4:10395626-10395627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536643900	chr4:10395658-10395659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184273933	chr4:10395659-10395660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189325885	chr4:10395666-10395667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573156993	chr4:10395667-10395668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540558475	chr4:10395701-10395702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548652275	chr4:10395715-10395716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144164802	chr4:10395840-10395841	Weak transcription	n/a	n/a	Overlapped CNVs	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:19 , 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	chr4:10387800-10397000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:10396800-10399600	Enhancers	HMEC	breast
4	chr4:10397000-10399000	Enhancers	NHEK	skin
5	chr4:10397000-10400000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:10397200-10399200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:10397400-10398400	Enhancers	K562	blood
8	chr4:10397600-10399000	Enhancers	Fetal Thymus	thymus
9	chr4:10397800-10398400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr4:10398400-10403400	Weak transcription	K562	blood
11	chr4:10398600-10398800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
12	chr4:10399000-10405600	Weak transcription	NHEK	skin
13	chr4:10399200-10402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:10399600-10400000	Weak transcription	HMEC	breast
15	chr4:10400000-10400400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:10400000-10400600	Enhancers	HMEC	breast
17	chr4:10400400-10400600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:10400600-10405200	Weak transcription	HMEC	breast
19	chr4:10400600-10405400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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