Variant report

Variant	esv1006673
Chromosome Location	chr4:127913488-127915493
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	chr4:127879946..127881512-chr4:127913269..127915324,2	K562	blood:
2	chr4:127875714..127878678-chr4:127910888..127914676,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370725834	chr4:127913488-127913489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531759953	chr4:127913500-127913501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543902095	chr4:127913513-127913514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546063612	chr4:127913527-127913528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375365940	chr4:127913577-127913578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561896455	chr4:127913583-127913584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113597064	chr4:127913617-127913618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548478836	chr4:127913640-127913641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140917982	chr4:127913647-127913648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150385616	chr4:127913875-127913876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184192177	chr4:127913878-127913879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570523036	chr4:127913880-127913881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17275960	chr4:127913898-127913899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187877456	chr4:127913966-127913967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556232437	chr4:127913967-127913968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192550002	chr4:127913987-127913988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184841072	chr4:127914068-127914069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116986896	chr4:127914086-127914087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528040077	chr4:127914114-127914115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188724490	chr4:127914145-127914146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545133805	chr4:127914189-127914190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558022379	chr4:127914230-127914231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563384361	chr4:127914308-127914309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181456604	chr4:127914320-127914321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547885620	chr4:127914379-127914380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562234974	chr4:127914395-127914396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145072283	chr4:127914412-127914413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149098350	chr4:127914456-127914457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184464438	chr4:127914459-127914460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112168225	chr4:127914543-127914544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562523471	chr4:127914579-127914580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530513880	chr4:127914592-127914593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552502168	chr4:127914612-127914613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570510757	chr4:127914629-127914630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531548265	chr4:127914711-127914712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34261493	chr4:127914738-127914739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530576697	chr4:127914747-127914748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138787840	chr4:127914763-127914764	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127912600-127914800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:127913000-127914000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:127913000-127914400	Enhancers	NHDF-Ad	bronchial
4	chr4:127913400-127914600	Enhancers	Brain Substantia Nigra	brain
5	chr4:127914000-127914400	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links