Variant report

Variant	esv3502402
Chromosome Location	chr4:22501930-22502273
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	chr4:22501387..22504925-chr4:22515596..22518632,4	MCF-7	breast:
2	chr4:22500720..22505653-chr4:22515837..22519334,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152990	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554705716	chr4:22501967-22501968	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574062049	chr4:22501970-22501971	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112076399	chr4:22502010-22502011	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541482387	chr4:22502012-22502013	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369179664	chr4:22502019-22502020	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs58836068	chr4:22502053-22502054	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188580504	chr4:22502056-22502057	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139011225	chr4:22502062-22502063	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200030361	chr4:22502064-22502065	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs386672487	chr4:22502066-22502067	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574574180	chr4:22502077-22502078	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563968027	chr4:22502085-22502086	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370751571	chr4:22502099-22502100	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113908526	chr4:22502130-22502131	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549607218	chr4:22502136-22502137	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
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
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
Lung cancer	18438408	CNVD
Wilms tumour	21544195	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
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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22485000-22506000	Weak transcription	Esophagus	oesophagus
2	chr4:22485600-22502000	Weak transcription	A549	lung
3	chr4:22488400-22503000	Weak transcription	Small Intestine	intestine
4	chr4:22488600-22516000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:22488800-22503600	Weak transcription	NHLF	lung
6	chr4:22489600-22503800	Weak transcription	HSMM	muscle
7	chr4:22490200-22503600	Weak transcription	Right Ventricle	heart
8	chr4:22490200-22508600	Weak transcription	Right Atrium	heart
9	chr4:22492800-22506000	Weak transcription	Lung	lung
10	chr4:22493200-22504000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:22493800-22506200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:22495400-22502000	Weak transcription	Left Ventricle	heart
13	chr4:22497000-22515600	Weak transcription	Fetal Stomach	stomach
14	chr4:22497200-22506000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:22498400-22502600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:22498400-22503400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:22498800-22502000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:22498800-22502000	Weak transcription	NH-A	brain
19	chr4:22499600-22502000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:22500000-22508200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:22500200-22502800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:22500400-22502200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr4:22500400-22502600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr4:22500400-22503400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:22500400-22504200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:22500400-22504400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:22500400-22510600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:22500400-22510600	Enhancers	HMEC	breast
29	chr4:22500600-22502200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:22500600-22503000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:22500600-22503000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr4:22500600-22503200	Enhancers	Colon Smooth Muscle	Colon
33	chr4:22500600-22504200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:22500600-22504400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr4:22500600-22504600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:22500600-22505600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr4:22500600-22507800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:22500600-22510800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:22500800-22506600	Enhancers	Fetal Heart	heart
40	chr4:22500800-22507600	Weak transcription	Ovary	ovary
41	chr4:22501000-22502200	Enhancers	Adipose Nuclei	Adipose
42	chr4:22501000-22502800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr4:22501000-22503200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr4:22501000-22503200	Enhancers	Rectal Smooth Muscle	rectum
45	chr4:22501000-22503600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:22501000-22504200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:22501000-22505600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:22501000-22506000	Weak transcription	Brain Germinal Matrix	brain
49	chr4:22501200-22502800	Enhancers	Fetal Muscle Leg	muscle
50	chr4:22501200-22503800	Enhancers	Fetal Intestine Large	intestine

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