Variant report

Variant	esv1812328
Chromosome Location	chr4:130280857-130282466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548330428	chr4:130280893-130280894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557103435	chr4:130280925-130280926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185572188	chr4:130280929-130280930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534312849	chr4:130280965-130280966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372442032	chr4:130280966-130280967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117775299	chr4:130281083-130281084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72927081	chr4:130281084-130281085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146257451	chr4:130281085-130281086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556417379	chr4:130281086-130281087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72927083	chr4:130281110-130281111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190832092	chr4:130281132-130281133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142695637	chr4:130281166-130281167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78695647	chr4:130281200-130281201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144156478	chr4:130281207-130281208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182071066	chr4:130281242-130281243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532565285	chr4:130281243-130281244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148500125	chr4:130281283-130281284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28612520	chr4:130281352-130281353	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530344410	chr4:130281449-130281450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548537236	chr4:130281504-130281505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566877433	chr4:130281514-130281515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72688760	chr4:130281557-130281558	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551915909	chr4:130281559-130281560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377261713	chr4:130281570-130281571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552692744	chr4:130281580-130281581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184631334	chr4:130281611-130281612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28580176	chr4:130281632-130281633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538021490	chr4:130281726-130281727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188212598	chr4:130281736-130281737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181320055	chr4:130281758-130281759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185532785	chr4:130281869-130281870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10020190	chr4:130281938-130281939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571698270	chr4:130281959-130281960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545440254	chr4:130281992-130281993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142797259	chr4:130282041-130282042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550791172	chr4:130282058-130282059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555080348	chr4:130282115-130282116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575450922	chr4:130282210-130282211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372678080	chr4:130282276-130282277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150630183	chr4:130282277-130282278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544758897	chr4:130282358-130282359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562964445	chr4:130282398-130282399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs118079743	chr4:130282410-130282411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35536616	chr4:130282413-130282414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130277200-130284000	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:130277600-130284200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:130279000-130281600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:130279200-130281600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:130279800-130281200	Enhancers	Fetal Lung	lung
6	chr4:130280400-130283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:130280400-130283600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:130280400-130283800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:130280400-130283800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:130280400-130283800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:130280400-130283800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:130280400-130283800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:130280400-130283800	Weak transcription	HUVEC	blood vessel
14	chr4:130280400-130284000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:130280400-130284400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:130280400-130284600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:130280400-130284600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:130281600-130284400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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