Variant report

Variant	esv3379103
Chromosome Location	chr4:885602-888100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:881379..884197-chr4:884613..886808,2	K562	blood:
2	chr4:807624..808191-chr4:885316..885983,2	MCF-7	breast:
3	chr4:881197..883636-chr4:883859..886779,2	MCF-7	breast:
4	chr4:870304..871151-chr4:885193..886129,2	MCF-7	breast:
5	chr4:780193..782237-chr4:884092..886057,2	MCF-7	breast:
6	chr4:876120..878849-chr4:886428..888695,2	K562	blood:
7	chr4:887542..889741-chr4:942497..944855,2	K562	blood:
8	chr4:880377..884197-chr4:884613..886808,4	K562	blood:

Variant related genes	Relation type
ENSG00000127419	chromatin interactions
ENSG00000178950	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560030370	chr4:885609-885610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138888339	chr4:885610-885611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193087732	chr4:885636-885637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183624043	chr4:885692-885693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531200420	chr4:885755-885756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375265674	chr4:885762-885763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549118431	chr4:885765-885766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186922322	chr4:885774-885775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140495153	chr4:885775-885776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373257138	chr4:885795-885796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561288257	chr4:885803-885804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528623876	chr4:885811-885812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3775128	chr4:885828-885829	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs150412889	chr4:885850-885851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546777285	chr4:885856-885857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373177654	chr4:885857-885858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112195598	chr4:885908-885909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569068989	chr4:885923-885924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191823092	chr4:885925-885926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138119227	chr4:885937-885938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73207802	chr4:885951-885952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566455336	chr4:885963-885964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115124874	chr4:885964-885965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558665064	chr4:885978-885979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112996693	chr4:885984-885985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545633944	chr4:886033-886034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557548486	chr4:886034-886035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575850990	chr4:886043-886044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543301833	chr4:886047-886048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3775127	chr4:886061-886062	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs111513887	chr4:886106-886107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187967699	chr4:886113-886114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565057303	chr4:886135-886136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532431436	chr4:886136-886137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550368193	chr4:886152-886153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191320586	chr4:886161-886162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371193574	chr4:886173-886174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113669920	chr4:886187-886188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548449348	chr4:886199-886200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374779351	chr4:886297-886298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533792466	chr4:886321-886322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3775126	chr4:886345-886346	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185655119	chr4:886373-886374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544749526	chr4:886405-886406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560681933	chr4:886408-886409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115064783	chr4:886421-886422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147422714	chr4:886438-886439	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534375865	chr4:886486-886487	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374346681	chr4:886516-886517	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542983916	chr4:886518-886519	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:841200-898600	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:841200-898800	Strong transcription	Placenta	Placenta
3	chr4:841200-901400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:841200-906000	Strong transcription	Stomach Smooth Muscle	stomach
5	chr4:841400-892000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:841400-907400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:842000-907400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:842200-907600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:844200-907600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:847200-920000	Weak transcription	Right Atrium	heart
11	chr4:849800-892200	Strong transcription	Colonic Mucosa	Colon
12	chr4:850200-892000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr4:850400-896200	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:850600-892400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:853400-891000	Weak transcription	Stomach Mucosa	stomach
16	chr4:853800-899400	Strong transcription	Dnd41	blood
17	chr4:856800-895600	Strong transcription	Fetal Brain Female	brain
18	chr4:857200-900200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:857400-899200	Strong transcription	Fetal Intestine Small	intestine
20	chr4:857400-906000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:857400-909600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:858000-907400	Strong transcription	Fetal Stomach	stomach
23	chr4:861600-899200	Strong transcription	Fetal Intestine Large	intestine
24	chr4:861800-907400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:864000-892000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:864000-898600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:864400-895800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:865600-895800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr4:867600-895800	Strong transcription	Adipose Nuclei	Adipose
30	chr4:868800-899400	Strong transcription	Fetal Muscle Leg	muscle
31	chr4:870000-892000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:870800-901400	Weak transcription	HUVEC	blood vessel
33	chr4:872200-890400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:873200-889200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:873600-907400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:873800-919000	Weak transcription	NHDF-Ad	bronchial
37	chr4:874000-899600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:874000-900200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:874000-900600	Strong transcription	Primary T cells from cord blood	blood
40	chr4:874200-889400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr4:874200-892000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:874600-899200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr4:875000-891400	Strong transcription	Brain Substantia Nigra	brain
44	chr4:875000-907800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:875200-893400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr4:875200-907400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:877400-889200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr4:877600-903200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr4:878000-889800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:880000-900000	Strong transcription	Fetal Muscle Trunk	muscle

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