Variant report

Variant	esv3451628
Chromosome Location	chr4:22432848-22435807
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	chr4:22433445..22435816-chr4:22516699..22518877,2	MCF-7	breast:
2	chr4:22427307..22429305-chr4:22435269..22437253,2	K562	blood:

Variant related genes	Relation type
ENSG00000152990	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528000559	chr4:22432851-22432852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377731043	chr4:22432896-22432897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552578238	chr4:22432898-22432899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571050635	chr4:22432899-22432900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538434377	chr4:22432900-22432901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550358698	chr4:22432901-22432902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146654240	chr4:22432917-22432918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568760893	chr4:22432926-22432927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533354450	chr4:22432936-22432937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537327067	chr4:22432996-22432997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368286155	chr4:22433015-22433016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192363357	chr4:22433024-22433025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182111729	chr4:22433058-22433059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371991021	chr4:22433065-22433066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10938898	chr4:22433071-22433072	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs570829052	chr4:22433096-22433097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144017213	chr4:22433127-22433128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150986461	chr4:22433131-22433132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28787887	chr4:22433132-22433133	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539941072	chr4:22433137-22433138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553462888	chr4:22433152-22433153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186757689	chr4:22433171-22433172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574613520	chr4:22433172-22433173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191620776	chr4:22433236-22433237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10938899	chr4:22433253-22433254	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534865501	chr4:22433267-22433268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573333831	chr4:22433346-22433347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527662948	chr4:22433393-22433394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376550414	chr4:22433442-22433443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546520617	chr4:22433495-22433496	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527748342	chr4:22433546-22433547	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs1462995	chr4:22433582-22433583	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550422110	chr4:22433587-22433588	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568638247	chr4:22433603-22433604	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs76779920	chr4:22433621-22433622	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547155580	chr4:22433622-22433623	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150140022	chr4:22433650-22433651	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs13110697	chr4:22433659-22433660	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184139770	chr4:22433709-22433710	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543319015	chr4:22433742-22433743	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557693291	chr4:22433761-22433762	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs145655986	chr4:22433792-22433793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs562968084	chr4:22433867-22433868	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs76887824	chr4:22433871-22433872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs1462996	chr4:22433887-22433888	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188654256	chr4:22433896-22433897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542335137	chr4:22433909-22433910	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370884430	chr4:22433925-22433926	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571464034	chr4:22433949-22433950	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553968668	chr4:22433964-22433965	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22371600-22449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:22383200-22438000	Weak transcription	Lung	lung
3	chr4:22383600-22442800	Weak transcription	A549	lung
4	chr4:22386000-22446600	Weak transcription	Fetal Thymus	thymus
5	chr4:22388200-22442800	Weak transcription	Brain Germinal Matrix	brain
6	chr4:22388400-22473600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:22388800-22469600	Weak transcription	Colonic Mucosa	Colon
8	chr4:22389200-22473600	Weak transcription	Fetal Brain Male	brain
9	chr4:22390600-22439600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:22390600-22456200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:22390600-22459800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:22393000-22435200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:22393400-22444800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:22393600-22459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:22393800-22446400	Weak transcription	NH-A	brain
16	chr4:22393800-22453000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:22399800-22442800	Weak transcription	Fetal Brain Female	brain
18	chr4:22400000-22448000	Weak transcription	Left Ventricle	heart
19	chr4:22400800-22449600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:22400800-22461800	Weak transcription	Gastric	stomach
21	chr4:22405400-22446000	Weak transcription	Pancreas	Pancrea
22	chr4:22412800-22446000	Weak transcription	Thymus	Thymus
23	chr4:22416800-22449600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:22417600-22442200	Weak transcription	Hela-S3	cervix
25	chr4:22417800-22436200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:22418000-22435200	Strong transcription	Liver	Liver
27	chr4:22419200-22476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:22419400-22465800	Weak transcription	HUVEC	blood vessel
29	chr4:22420200-22436400	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:22420600-22488000	Weak transcription	Aorta	Aorta
31	chr4:22420800-22436400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:22421200-22442600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:22422000-22441400	Weak transcription	Right Ventricle	heart
34	chr4:22422000-22453400	Weak transcription	Esophagus	oesophagus
35	chr4:22422600-22442800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:22424400-22457800	Weak transcription	Dnd41	blood
37	chr4:22424600-22448000	Weak transcription	Fetal Kidney	kidney
38	chr4:22426000-22461800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:22426200-22436800	Weak transcription	HepG2	liver
40	chr4:22426200-22442400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr4:22426200-22443200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr4:22426400-22437400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:22426600-22437000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:22426800-22442800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:22427000-22439000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr4:22427400-22433000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:22427400-22444400	Weak transcription	Primary T cells from cord blood	blood
48	chr4:22427600-22437400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:22427800-22435200	Weak transcription	Fetal Stomach	stomach
50	chr4:22428600-22460600	Weak transcription	Placenta	Placenta

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