Variant report

Variant	esv3408864
Chromosome Location	chr4:106892181-106892259
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	chr4:106887456..106889900-chr4:106890569..106892940,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572688016	chr4:106892186-106892187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139711697	chr4:106892190-106892191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200303428	chr4:106892191-106892192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72958806	chr4:106892195-106892196	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4449421	chr4:106892210-106892211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553757784	chr4:106892255-106892256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106885400-106909800	Weak transcription	Aorta	Aorta
2	chr4:106885600-106894000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:106886600-106894600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:106887200-106892200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:106888600-106893800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:106888600-106894000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:106888800-106893600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:106888800-106894200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:106889200-106893600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:106889200-106893600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:106889200-106893600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:106889200-106893800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:106889200-106894000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:106889400-106893800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:106889400-106894000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:106890400-106892200	Weak transcription	K562	blood
17	chr4:106890400-106893800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:106890600-106894200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:106890600-106894200	Weak transcription	Pancreas	Pancrea
20	chr4:106891000-106893800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:106891000-106898600	Weak transcription	Fetal Intestine Large	intestine
22	chr4:106891200-106892200	Enhancers	Fetal Muscle Leg	muscle
23	chr4:106891400-106895400	Weak transcription	Psoas Muscle	Psoas
24	chr4:106891600-106893200	Enhancers	Fetal Intestine Small	intestine
25	chr4:106891800-106897800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:106892000-106892200	Enhancers	Duodenum Mucosa	Duodenum
27	chr4:106892000-106892400	Enhancers	HSMMtube	muscle
28	chr4:106892200-106892600	Enhancers	K562	blood
29	chr4:106892200-106892800	Enhancers	Rectal Mucosa Donor 31	rectum

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