Variant report

Variant	esv3364776
Chromosome Location	chr4:15556085-15556611
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	chr4:15555076..15558141-chr4:15558496..15561165,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372721791	chr4:15556112-15556113	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545273444	chr4:15556133-15556134	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552338251	chr4:15556140-15556141	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185333951	chr4:15556155-15556156	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190140946	chr4:15556184-15556185	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548808440	chr4:15556185-15556186	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568834331	chr4:15556193-15556194	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77000331	chr4:15556196-15556197	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551248585	chr4:15556230-15556231	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117459877	chr4:15556253-15556254	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533854801	chr4:15556264-15556265	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553513595	chr4:15556316-15556317	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532754627	chr4:15556351-15556352	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546323637	chr4:15556377-15556378	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567356269	chr4:15556389-15556390	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3822298	chr4:15556403-15556404	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371170223	chr4:15556457-15556458	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144857763	chr4:15556514-15556515	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544314590	chr4:15556527-15556528	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148134130	chr4:15556571-15556572	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528987192	chr4:15556602-15556603	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15487400-15570400	Weak transcription	Psoas Muscle	Psoas
2	chr4:15495600-15559400	Weak transcription	HSMMtube	muscle
3	chr4:15502800-15577600	Weak transcription	Right Ventricle	heart
4	chr4:15508200-15556400	Weak transcription	Colonic Mucosa	Colon
5	chr4:15509200-15564400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:15512000-15580000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:15513000-15562400	Weak transcription	Primary B cells from cord blood	blood
8	chr4:15517800-15593600	Weak transcription	HUVEC	blood vessel
9	chr4:15520000-15572400	Weak transcription	Small Intestine	intestine
10	chr4:15526000-15558200	Weak transcription	Spleen	Spleen
11	chr4:15530200-15556600	Weak transcription	HSMM	muscle
12	chr4:15537200-15565000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:15537400-15621000	Weak transcription	Hela-S3	cervix
14	chr4:15539000-15570400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:15540200-15556800	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:15540200-15558200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:15540200-15558200	Weak transcription	Brain Angular Gyrus	brain
18	chr4:15540200-15558200	Weak transcription	Brain Anterior Caudate	brain
19	chr4:15540200-15559600	Weak transcription	Esophagus	oesophagus
20	chr4:15540200-15561600	Weak transcription	HMEC	breast
21	chr4:15540200-15561600	Weak transcription	NHEK	skin
22	chr4:15540200-15562600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:15540400-15563200	Weak transcription	Brain Substantia Nigra	brain
24	chr4:15540400-15565000	Weak transcription	NHDF-Ad	bronchial
25	chr4:15543800-15570600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr4:15544400-15562400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:15544600-15563600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:15544800-15571600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:15544800-15576200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:15545000-15559400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr4:15545000-15575600	Weak transcription	Fetal Heart	heart
32	chr4:15545400-15556600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:15546000-15589600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:15546200-15557000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:15546200-15564400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:15546200-15569400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:15546400-15572600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:15546800-15557000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:15546800-15569200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:15547400-15556400	Weak transcription	Fetal Lung	lung
41	chr4:15548000-15556800	Weak transcription	Brain Germinal Matrix	brain
42	chr4:15548400-15556600	Weak transcription	Left Ventricle	heart
43	chr4:15548600-15559200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr4:15548800-15570800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:15549400-15565600	Weak transcription	Primary T cells from cord blood	blood
46	chr4:15549600-15564400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:15549600-15570800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:15550000-15617800	Weak transcription	Thymus	Thymus
49	chr4:15552200-15556800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:15553800-15557800	Strong transcription	Colon Smooth Muscle	Colon

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