Variant report

Variant	esv1804518
Chromosome Location	chr4:10392815-10402489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000071127	chromatin interactions
ENSG00000223086	chromatin interactions

Extended variants
information (count: 396 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4406011	chr4:10392815-10392816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79867785	chr4:10392832-10392833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11727893	chr4:10392887-10392888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114646057	chr4:10392912-10392913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540588128	chr4:10392957-10392958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115204671	chr4:10392961-10392962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573932074	chr4:10392995-10392996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556719055	chr4:10393020-10393021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562633621	chr4:10393035-10393036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58954581	chr4:10393076-10393077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575320526	chr4:10393162-10393163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545997601	chr4:10393174-10393175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551114956	chr4:10393223-10393224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560104478	chr4:10393234-10393235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371175376	chr4:10393252-10393253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200842065	chr4:10393314-10393315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551221444	chr4:10393318-10393319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58821154	chr4:10393319-10393320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567584964	chr4:10393379-10393380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564186077	chr4:10393405-10393406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181569020	chr4:10393426-10393427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146849500	chr4:10393452-10393453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528431499	chr4:10393467-10393468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185670988	chr4:10393496-10393497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538745292	chr4:10393547-10393548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540222082	chr4:10393599-10393600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73224470	chr4:10393632-10393633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573381914	chr4:10393660-10393661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190283543	chr4:10393692-10393693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555772069	chr4:10393742-10393743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574316956	chr4:10393789-10393790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182944492	chr4:10393802-10393803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140695876	chr4:10393809-10393810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577675715	chr4:10393855-10393856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6825483	chr4:10393867-10393868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186215895	chr4:10393873-10393874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527477807	chr4:10393878-10393879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6850854	chr4:10393968-10393969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs561021029	chr4:10393987-10393988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531637693	chr4:10393990-10393991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143827667	chr4:10394017-10394018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571280831	chr4:10394044-10394045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4698046	chr4:10394063-10394064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547495890	chr4:10394083-10394084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376853131	chr4:10394112-10394113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565804592	chr4:10394158-10394159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550796286	chr4:10394164-10394165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534121929	chr4:10394186-10394187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555974674	chr4:10394201-10394202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567816527	chr4:10394202-10394203	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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