Variant report

Variant	esv2149437
Chromosome Location	chr4:48025095-48025096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48016518..48018197-chr4:48024501..48026849,2	K562	blood:
2	chr4:47931421..47933962-chr4:48023489..48026018,2	MCF-7	breast:
3	chr4:48019190..48021605-chr4:48023120..48025588,2	K562	blood:
4	chr4:48024660..48026222-chr4:48100298..48102831,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 63 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13140968	chr4:48025095-48025096	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:63)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48019800-48026000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:48019800-48026600	Weak transcription	NH-A	brain
3	chr4:48019800-48027600	Weak transcription	Placenta	Placenta
4	chr4:48019800-48030200	Weak transcription	Psoas Muscle	Psoas
5	chr4:48019800-48033800	Weak transcription	Pancreas	Pancrea
6	chr4:48019800-48033800	Weak transcription	Hela-S3	cervix
7	chr4:48019800-48034000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:48019800-48034200	Weak transcription	HepG2	liver
9	chr4:48019800-48043600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:48019800-48049800	Weak transcription	Esophagus	oesophagus
11	chr4:48020000-48026600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:48020000-48029200	Weak transcription	GM12878-XiMat	blood
13	chr4:48020400-48027600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:48020600-48026200	Weak transcription	Fetal Heart	heart
15	chr4:48020600-48049600	Weak transcription	Colonic Mucosa	Colon
16	chr4:48020800-48025400	Enhancers	Fetal Intestine Large	intestine
17	chr4:48020800-48026600	Weak transcription	HMEC	breast
18	chr4:48021000-48026400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:48021600-48034200	Weak transcription	Stomach Mucosa	stomach
20	chr4:48021800-48026800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:48022200-48029800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:48022600-48025200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr4:48022600-48026600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:48022800-48025600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr4:48022800-48026600	Weak transcription	Gastric	stomach
26	chr4:48022800-48026800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:48022800-48029400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:48023200-48027000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:48023400-48026800	Weak transcription	Liver	Liver
30	chr4:48024200-48025400	Strong transcription	NHEK	skin
31	chr4:48024600-48027000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:48024600-48027000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:48024600-48043600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:48024800-48026200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:48025000-48026200	Genic enhancers	Fetal Intestine Small	intestine
36	chr4:48025000-48027000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr4:48025000-48028400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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