Variant report

Variant	esv3438877
Chromosome Location	chr4:625002-627800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Extended variants
information (count: 132 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150908978	chr4:625006-625007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60643031	chr4:625031-625032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549359560	chr4:625046-625047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181174519	chr4:625058-625059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535042974	chr4:625060-625061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546951097	chr4:625065-625066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571643195	chr4:625087-625088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs118101996	chr4:625110-625111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71602486	chr4:625138-625139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575813724	chr4:625144-625145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536437747	chr4:625154-625155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554498509	chr4:625176-625177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573069066	chr4:625181-625182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138093077	chr4:625183-625184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565200133	chr4:625211-625212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73219278	chr4:625217-625218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35714333	chr4:625273-625274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543807801	chr4:625296-625297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562239691	chr4:625312-625313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529779908	chr4:625367-625368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549539905	chr4:625368-625369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186712170	chr4:625376-625377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368039999	chr4:625381-625382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528707599	chr4:625416-625417	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs546945413	chr4:625445-625446	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs34585712	chr4:625455-625456	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs538990597	chr4:625463-625464	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs142581732	chr4:625520-625521	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs551044050	chr4:625540-625541	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs569356485	chr4:625541-625542	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs190699944	chr4:625542-625543	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs116624466	chr4:625592-625593	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs565568342	chr4:625593-625594	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs533998743	chr4:625602-625603	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs13116523	chr4:625611-625612	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs143988192	chr4:625642-625643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs569608426	chr4:625648-625649	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs536646879	chr4:625651-625652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs148640385	chr4:625659-625660	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs142134753	chr4:625673-625674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs10001451	chr4:625691-625692	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139493719	chr4:625699-625700	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs144993010	chr4:625704-625705	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs182708979	chr4:625713-625714	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs575100856	chr4:625730-625731	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs540827094	chr4:625815-625816	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs13127213	chr4:625854-625855	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7438471	chr4:625859-625860	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs550970264	chr4:625906-625907	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs13133935	chr4:625940-625941	Weak transcription ZNF genes & repeats	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:619600-626000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:624600-630400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:625400-625600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
4	chr4:625400-625800	ZNF genes & repeats	Gastric	stomach
5	chr4:625600-626600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
6	chr4:625600-627400	ZNF genes & repeats	Spleen	Spleen
7	chr4:626000-626400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:626400-626800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:626400-642000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:626800-630400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:627000-633000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:627400-628200	Weak transcription	Spleen	Spleen
13	chr4:627400-628600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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