Variant report

Variant	esv3391073
Chromosome Location	chr4:144176349-144176871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144175749..144177348-chr4:144177529..144179744,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571127476	chr4:144176350-144176351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374056857	chr4:144176394-144176395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62330315	chr4:144176410-144176411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373301348	chr4:144176413-144176414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534967463	chr4:144176414-144176415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375959090	chr4:144176415-144176416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141654795	chr4:144176418-144176419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs5862627	chr4:144176422-144176423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56057243	chr4:144176428-144176429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28441426	chr4:144176429-144176430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28634281	chr4:144176430-144176431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145318259	chr4:144176475-144176476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367935162	chr4:144176487-144176488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568435739	chr4:144176493-144176494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35887480	chr4:144176497-144176498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183951274	chr4:144176505-144176506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2010767	chr4:144176546-144176547	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188728994	chr4:144176554-144176555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557619026	chr4:144176569-144176570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367796536	chr4:144176609-144176610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79356643	chr4:144176657-144176658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191690005	chr4:144176687-144176688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561376115	chr4:144176694-144176695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573288849	chr4:144176715-144176716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543946270	chr4:144176720-144176721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184143947	chr4:144176721-144176722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532842193	chr4:144176733-144176734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11932889	chr4:144176770-144176771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369341485	chr4:144176777-144176778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533955907	chr4:144176778-144176779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35411225	chr4:144176835-144176836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144172800-144179800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:144172800-144184000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:144173600-144184000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:144174400-144177600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:144174800-144177600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:144174800-144177600	Weak transcription	HMEC	breast
7	chr4:144174800-144177600	Weak transcription	NHEK	skin
8	chr4:144175800-144176400	Enhancers	Hela-S3	cervix
9	chr4:144175800-144176600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:144176000-144177800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:144176200-144176600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:144176400-144177800	Weak transcription	Hela-S3	cervix

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