Variant report

Variant	esv3334209
Chromosome Location	chr4:16505884-16506097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564287539	chr4:16505923-16505924	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115175947	chr4:16505937-16505938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144661645	chr4:16505939-16505940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188551895	chr4:16505970-16505971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138622876	chr4:16506038-16506039	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548970574	chr4:16506047-16506048	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562483765	chr4:16506060-16506061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs59407077	chr4:16506073-16506074	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16496600-16508600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:16498400-16513200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:16498400-16518200	Weak transcription	Brain Angular Gyrus	brain
4	chr4:16498600-16509000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:16498800-16508000	Weak transcription	NHLF	lung
6	chr4:16498800-16509000	Weak transcription	Osteobl	bone
7	chr4:16500600-16507200	Weak transcription	HUVEC	blood vessel
8	chr4:16501200-16509000	Weak transcription	Fetal Intestine Large	intestine
9	chr4:16501200-16509400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:16501400-16510800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:16501400-16511400	Weak transcription	Gastric	stomach
12	chr4:16501600-16508800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:16502200-16510800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:16502200-16512200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:16502400-16510800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr4:16502800-16511400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:16502800-16512200	Weak transcription	Pancreas	Pancrea
18	chr4:16503000-16508400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:16503000-16510600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:16503000-16510800	Weak transcription	Fetal Lung	lung
21	chr4:16503000-16511200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:16503000-16511400	Weak transcription	Right Ventricle	heart
23	chr4:16503000-16513000	Weak transcription	Primary T cells from cord blood	blood
24	chr4:16503200-16506800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:16503200-16509000	Weak transcription	Liver	Liver
26	chr4:16503200-16509200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:16503200-16509200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:16503200-16510600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:16503200-16510800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:16503200-16518400	Weak transcription	Brain Substantia Nigra	brain
31	chr4:16503400-16506600	Strong transcription	Adipose Nuclei	Adipose
32	chr4:16503400-16510200	Weak transcription	Fetal Kidney	kidney
33	chr4:16504000-16508800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:16504200-16508000	Strong transcription	Fetal Stomach	stomach
35	chr4:16504200-16509600	Strong transcription	Fetal Muscle Leg	muscle
36	chr4:16504600-16506200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:16504600-16507000	Enhancers	Brain Germinal Matrix	brain
38	chr4:16504600-16508200	Weak transcription	Ovary	ovary
39	chr4:16504600-16509000	Weak transcription	Left Ventricle	heart
40	chr4:16504600-16509600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:16504600-16511400	Weak transcription	Esophagus	oesophagus
42	chr4:16504600-16511600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:16504800-16507400	Weak transcription	Spleen	Spleen
44	chr4:16505000-16506200	Weak transcription	Placenta	Placenta
45	chr4:16505400-16509400	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:16505400-16513400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr4:16505400-16522200	Weak transcription	Lung	lung
48	chr4:16505600-16506800	Weak transcription	Fetal Brain Male	brain
49	chr4:16505600-16508800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:16505600-16509200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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