Variant report

Variant	esv3330270
Chromosome Location	chr4:1048829-1049293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1048335..1050594-chr4:1053315..1054904,2	K562	blood:
2	chr4:978985..981201-chr4:1048637..1050224,2	MCF-7	breast:
3	chr4:1049115..1051492-chr4:1235735..1239693,3	MCF-7	breast:
4	chr4:1042064..1045606-chr4:1047862..1051205,4	K562	blood:
5	chr4:1046102..1048749-chr4:1049067..1050606,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127415	chromatin interactions
ENSG00000145214	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77760310	chr4:1048835-1048836	Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs200062971	chr4:1048837-1048838	Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs78707432	chr4:1048841-1048842	Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs74951987	chr4:1048845-1048846	Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201622410	chr4:1048855-1048856	Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs79234521	chr4:1048898-1048899	Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs188932023	chr4:1048906-1048907	Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369192646	chr4:1048921-1048922	Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs373468111	chr4:1048942-1048943	Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs550708543	chr4:1048946-1048947	Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375508028	chr4:1048949-1048950	Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs369870702	chr4:1048969-1048970	Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373204704	chr4:1048980-1048981	Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs201205093	chr4:1049004-1049005	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs113363508	chr4:1049014-1049015	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376213861	chr4:1049021-1049022	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs568958656	chr4:1049028-1049029	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs5021995	chr4:1049072-1049073	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs112499981	chr4:1049104-1049105	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112004706	chr4:1049107-1049108	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113702166	chr4:1049112-1049113	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs112358496	chr4:1049118-1049119	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs113498513	chr4:1049123-1049124	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs112646432	chr4:1049135-1049136	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547967127	chr4:1049144-1049145	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs566604929	chr4:1049158-1049159	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371034947	chr4:1049166-1049167	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533746661	chr4:1049167-1049168	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112108121	chr4:1049173-1049174	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs111715321	chr4:1049178-1049179	Weak transcription Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200182132	chr4:1049212-1049213	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs111912180	chr4:1049241-1049242	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs150986785	chr4:1049274-1049275	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs193260543	chr4:1049286-1049287	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs184976846	chr4:1049287-1049288	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Breast cancer	20932292	CNVD
Cancer	20164919	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1041200-1049200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:1042200-1052200	Weak transcription	Gastric	stomach
3	chr4:1046600-1049200	Weak transcription	Lung	lung
4	chr4:1047000-1049200	Active TSS	Right Ventricle	heart
5	chr4:1047200-1049200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:1047200-1049200	Weak transcription	Spleen	Spleen
7	chr4:1047400-1049800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr4:1047600-1049400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:1048000-1049200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:1048000-1049200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:1048400-1049200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr4:1048600-1049200	Active TSS	Left Ventricle	heart
13	chr4:1048600-1049400	Active TSS	Brain Hippocampus Middle	brain
14	chr4:1048600-1049600	Active TSS	Pancreas	Pancrea
15	chr4:1048600-1049800	Active TSS	Right Atrium	heart
16	chr4:1049000-1049200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:1049000-1049200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr4:1049000-1049200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr4:1049000-1049200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:1049000-1049400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:1049000-1049400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:1049000-1049600	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr4:1049200-1049400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr4:1049200-1049400	Enhancers	Primary B cells from cord blood	blood
25	chr4:1049200-1049400	Enhancers	Primary B cells from peripheral blood	blood
26	chr4:1049200-1049400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr4:1049200-1049400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr4:1049200-1049400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:1049200-1049400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:1049200-1049400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:1049200-1049400	Bivalent Enhancer	Liver	Liver
32	chr4:1049200-1049400	Bivalent Enhancer	Fetal Thymus	thymus
33	chr4:1049200-1049400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
34	chr4:1049200-1049400	Enhancers	Thymus	Thymus
35	chr4:1049200-1049400	Bivalent Enhancer	NHEK	skin
36	chr4:1049200-1049600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr4:1049200-1049600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:1049200-1049600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:1049200-1049600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr4:1049200-1049600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:1049200-1049600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:1049200-1049600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
43	chr4:1049200-1049600	Bivalent Enhancer	Esophagus	oesophagus
44	chr4:1049200-1049600	Flanking Active TSS	Left Ventricle	heart
45	chr4:1049200-1049600	Flanking Active TSS	Right Ventricle	heart
46	chr4:1049200-1049600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
47	chr4:1049200-1049600	Bivalent Enhancer	HMEC	breast
48	chr4:1049200-1049600	Bivalent Enhancer	NH-A	brain
49	chr4:1049200-1049800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
50	chr4:1049200-1049800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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