Variant report

Variant	esv992928
Chromosome Location	chr4:119880696-119889458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 329 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541433863	chr4:119880732-119880733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542497999	chr4:119880804-119880805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77732855	chr4:119880810-119880811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575965523	chr4:119880877-119880878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13148959	chr4:119880878-119880879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567459300	chr4:119880882-119880883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71595335	chr4:119880886-119880887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543163790	chr4:119880903-119880904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77531652	chr4:119880919-119880920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369287579	chr4:119880926-119880927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114247835	chr4:119880940-119880941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187806307	chr4:119880941-119880942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541176216	chr4:119880946-119880947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561449304	chr4:119880966-119880967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149565573	chr4:119880980-119880981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs60527680	chr4:119880983-119880984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570267131	chr4:119881068-119881069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6858546	chr4:119881072-119881073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371846402	chr4:119881086-119881087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192763753	chr4:119881098-119881099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534797982	chr4:119881104-119881105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146277862	chr4:119881105-119881106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75316518	chr4:119881144-119881145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536064959	chr4:119881176-119881177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112813262	chr4:119881225-119881226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556006006	chr4:119881226-119881227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553699895	chr4:119881231-119881232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386678918	chr4:119881233-119881234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556088523	chr4:119881236-119881237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369459207	chr4:119881274-119881275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373133243	chr4:119881282-119881283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184782890	chr4:119881292-119881293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576269034	chr4:119881311-119881312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538584186	chr4:119881361-119881362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558267392	chr4:119881368-119881369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529788446	chr4:119881370-119881371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115681818	chr4:119881389-119881390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13122872	chr4:119881397-119881398	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560985450	chr4:119881409-119881410	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71610234	chr4:119881426-119881427	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71595336	chr4:119881546-119881547	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575050741	chr4:119881578-119881579	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544038288	chr4:119881582-119881583	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187579587	chr4:119881588-119881589	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139035381	chr4:119881612-119881613	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552873536	chr4:119881628-119881629	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143153875	chr4:119881645-119881646	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566443148	chr4:119881653-119881654	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10022588	chr4:119881669-119881670	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548249445	chr4:119881678-119881679	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Autism	22495311	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
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119868800-119886000	Weak transcription	Fetal Stomach	stomach
2	chr4:119874200-119886000	Enhancers	Rectal Smooth Muscle	rectum
3	chr4:119875200-119885800	Weak transcription	NHLF	lung
4	chr4:119875800-119880800	Weak transcription	Brain Anterior Caudate	brain
5	chr4:119876400-119886000	Weak transcription	Aorta	Aorta
6	chr4:119876800-119882800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:119878400-119881200	Enhancers	Colon Smooth Muscle	Colon
8	chr4:119878400-119881800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:119878600-119885400	Weak transcription	Right Ventricle	heart
10	chr4:119879200-119883400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:119879200-119889000	Weak transcription	Fetal Heart	heart
12	chr4:119879400-119883400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:119879400-119884000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:119879800-119883800	Weak transcription	Right Atrium	heart
15	chr4:119879800-119886000	Weak transcription	Psoas Muscle	Psoas
16	chr4:119879800-119893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:119880000-119882400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:119880000-119883200	Weak transcription	Ovary	ovary
19	chr4:119880000-119884000	Weak transcription	Left Ventricle	heart
20	chr4:119880600-119881200	Enhancers	Stomach Smooth Muscle	stomach
21	chr4:119880800-119881000	Enhancers	Brain Anterior Caudate	brain
22	chr4:119881000-119883200	Weak transcription	Brain Anterior Caudate	brain
23	chr4:119881200-119881400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:119881200-119882400	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:119881400-119882400	Genic enhancers	Stomach Smooth Muscle	stomach
26	chr4:119881800-119882200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:119882200-119884200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:119882400-119882600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr4:119882400-119882600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr4:119882400-119883600	Enhancers	Colon Smooth Muscle	Colon
31	chr4:119882600-119883200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:119882600-119885200	Enhancers	Stomach Smooth Muscle	stomach
33	chr4:119882800-119884000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:119883000-119883200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:119883200-119883800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:119883200-119884200	Enhancers	Adipose Nuclei	Adipose
37	chr4:119883200-119884200	Enhancers	Ovary	ovary
38	chr4:119883200-119884200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr4:119883400-119884200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:119883400-119884200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:119883400-119884400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:119883400-119886200	Weak transcription	Brain Anterior Caudate	brain
43	chr4:119883600-119885000	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:119883800-119884000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:119883800-119884200	Enhancers	Right Atrium	heart
46	chr4:119884000-119886000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:119884000-119886200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:119884000-119886200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr4:119884000-119886600	Enhancers	Left Ventricle	heart
50	chr4:119884200-119885000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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