Variant report

Variant	esv3340754
Chromosome Location	chr4:623752-628150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:615876..617771-chr4:628086..630978,3	K562	blood:
2	chr4:618337..620311-chr4:627716..629406,2	MCF-7	breast:
3	chr4:619501..622132-chr4:622263..626030,4	MCF-7	breast:
4	chr4:623895..625703-chr4:641254..643295,2	K562	blood:
5	chr4:624127..625792-chr4:659574..661910,2	K562	blood:
6	chr4:611669..613220-chr4:626593..629173,2	MCF-7	breast:
7	chr4:626527..629135-chr4:629423..631548,2	MCF-7	breast:
8	chr4:626004..628523-chr4:666543..668678,2	K562	blood:
9	chr4:627338..629172-chr4:662112..664476,2	MCF-7	breast:
10	chr4:619437..623881-chr4:666212..669300,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169020	chromatin interactions
ENSG00000133256	chromatin interactions
ENSG00000215375	chromatin interactions

Extended variants
information (count: 202 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541486485	chr4:623752-623753	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs150427246	chr4:623772-623773	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533108021	chr4:623780-623781	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs34328631	chr4:623791-623792	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs34366493	chr4:623799-623800	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563571306	chr4:623821-623822	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372738085	chr4:623839-623840	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs548984694	chr4:623850-623851	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs567284472	chr4:623941-623942	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs67703486	chr4:623959-623960	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546643288	chr4:623960-623961	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs571265920	chr4:623991-623992	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs540017650	chr4:624002-624003	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs557968546	chr4:624003-624004	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs569996612	chr4:624005-624006	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370651023	chr4:624008-624009	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs374639441	chr4:624022-624023	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577321614	chr4:624041-624042	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs374249692	chr4:624049-624050	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs541274802	chr4:624068-624069	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs138180207	chr4:624081-624082	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs541075044	chr4:624088-624089	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs553386270	chr4:624167-624168	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs578071574	chr4:624169-624170	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181897186	chr4:624218-624219	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs563509996	chr4:624250-624251	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs113957194	chr4:624298-624299	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs34101587	chr4:624320-624321	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs542917054	chr4:624368-624369	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs115291861	chr4:624451-624452	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs142740643	chr4:624465-624466	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs546323705	chr4:624494-624495	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs146282378	chr4:624519-624520	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs185692674	chr4:624527-624528	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs189129649	chr4:624533-624534	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs57334496	chr4:624534-624535	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs537261360	chr4:624551-624552	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs73056576	chr4:624572-624573	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs116696689	chr4:624584-624585	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs535014630	chr4:624612-624613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115978294	chr4:624631-624632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563638165	chr4:624650-624651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114601519	chr4:624657-624658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75762887	chr4:624742-624743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535063379	chr4:624743-624744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9998466	chr4:624801-624802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561192805	chr4:624824-624825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528412992	chr4:624863-624864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367565889	chr4:624896-624897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10029928	chr4:624897-624898	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:616800-624200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:619200-624000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:619600-626000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:621800-624000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:622000-624200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr4:623000-625000	Enhancers	Fetal Muscle Leg	muscle
7	chr4:623600-624800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:623800-624200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:624000-624200	Bivalent/Poised TSS	HepG2	liver
10	chr4:624000-624400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:624000-624400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
12	chr4:624000-624600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:624000-624600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:624200-624600	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr4:624200-625000	Enhancers	Fetal Muscle Trunk	muscle
16	chr4:624600-630400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:625400-625600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
18	chr4:625400-625800	ZNF genes & repeats	Gastric	stomach
19	chr4:625600-626600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
20	chr4:625600-627400	ZNF genes & repeats	Spleen	Spleen
21	chr4:626000-626400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:626400-626800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:626400-642000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:626800-630400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:627000-633000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:627400-628200	Weak transcription	Spleen	Spleen
27	chr4:627400-628600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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