Variant report

Variant	esv3446523
Chromosome Location	chr4:118399604-118401702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547461574	chr4:118399608-118399609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373638894	chr4:118399663-118399664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529020514	chr4:118399677-118399678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549965149	chr4:118399737-118399738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114933855	chr4:118399738-118399739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538952626	chr4:118399746-118399747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558676945	chr4:118399757-118399758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189266459	chr4:118399792-118399793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370781746	chr4:118399814-118399815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534705206	chr4:118399832-118399833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181778838	chr4:118399874-118399875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574613102	chr4:118399916-118399917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10020448	chr4:118399930-118399931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs148749976	chr4:118399955-118399956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72916254	chr4:118399962-118399963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114438034	chr4:118400057-118400058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559806266	chr4:118400064-118400065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369272613	chr4:118400072-118400073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114723095	chr4:118400081-118400082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114951730	chr4:118400086-118400087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142598757	chr4:118400094-118400095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150986455	chr4:118400112-118400113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115514539	chr4:118400116-118400117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569878116	chr4:118400176-118400177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140858579	chr4:118400211-118400212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77442421	chr4:118400213-118400214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146268416	chr4:118400316-118400317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28701752	chr4:118400337-118400338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554557937	chr4:118400410-118400411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111205529	chr4:118400452-118400453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568197260	chr4:118400587-118400588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141164474	chr4:118400600-118400601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528676941	chr4:118400707-118400708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573627209	chr4:118400712-118400713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557265900	chr4:118400755-118400756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146952040	chr4:118400767-118400768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10032856	chr4:118400825-118400826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186470918	chr4:118400837-118400838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377442234	chr4:118400838-118400839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575933073	chr4:118400869-118400870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370343375	chr4:118400877-118400878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541012677	chr4:118400888-118400889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560895621	chr4:118400892-118400893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529811431	chr4:118400901-118400902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111625741	chr4:118400903-118400904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139979298	chr4:118400922-118400923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190663835	chr4:118400938-118400939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563246857	chr4:118400940-118400941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532285364	chr4:118400943-118400944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200562397	chr4:118400992-118400993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118388000-118400800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:118396600-118402800	Weak transcription	HMEC	breast
3	chr4:118399400-118399800	Enhancers	NHEK	skin
4	chr4:118399400-118401200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:118399800-118400000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:118399800-118402200	Weak transcription	NHEK	skin
7	chr4:118400000-118401200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:118400800-118401200	Enhancers	Left Ventricle	heart
9	chr4:118400800-118401400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:118401200-118401400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:118401200-118402400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:118401400-118402400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:118401400-118402800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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