Variant report

Variant	esv1803992
Chromosome Location	chr4:120649398-120665812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:120648083..120649725-chr4:120663986..120665688,2	MCF-7	breast:
2	chr4:120648083..120649725-chr4:120663986..120665688,2	MCF-7	breast:
3	chr4:120549837..120550682-chr4:120652400..120652958,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-10	chr4:120653416-120653523	ucscGeneNc_uc003idi_2
2	lnc-AC110373.1-10	chr4:120652954-120653067	ucscGeneNc_uc003idi_2

Variant related genes	Relation type
ENSG00000138735	chromatin interactions

Extended variants
information (count: 591 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7669436	chr4:120649398-120649399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192352459	chr4:120649423-120649424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139453125	chr4:120649433-120649434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144128706	chr4:120649442-120649443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184634736	chr4:120649452-120649453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543717025	chr4:120649506-120649507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563702192	chr4:120649524-120649525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532372780	chr4:120649555-120649556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9968281	chr4:120649589-120649590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559870548	chr4:120649607-120649608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17005515	chr4:120649610-120649611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188253024	chr4:120649702-120649703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567609398	chr4:120649705-120649706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536559146	chr4:120649725-120649726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180843399	chr4:120649782-120649783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569647448	chr4:120649792-120649793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185044158	chr4:120649848-120649849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146087565	chr4:120649862-120649863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368339760	chr4:120649865-120649866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114110723	chr4:120649880-120649881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571802736	chr4:120649883-120649884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114799851	chr4:120649908-120649909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554752124	chr4:120650058-120650059	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs72680964	chr4:120650069-120650070	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs75818352	chr4:120650070-120650071	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs149024072	chr4:120650080-120650081	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs143018162	chr4:120650109-120650110	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377565675	chr4:120650127-120650128	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs151176542	chr4:120650171-120650172	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs141223789	chr4:120650178-120650179	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs147098350	chr4:120650179-120650180	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs548664617	chr4:120650196-120650197	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs561141815	chr4:120650207-120650208	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529824164	chr4:120650370-120650371	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189402034	chr4:120650386-120650387	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181930831	chr4:120650434-120650435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569827554	chr4:120650440-120650441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185986502	chr4:120650457-120650458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551743569	chr4:120650508-120650509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565296624	chr4:120650512-120650513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534415043	chr4:120650520-120650521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554214764	chr4:120650558-120650559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574991021	chr4:120650689-120650690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370857872	chr4:120650703-120650704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537233741	chr4:120650712-120650713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35826330	chr4:120650787-120650788	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs191100480	chr4:120650798-120650799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182031933	chr4:120650879-120650880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553415807	chr4:120650880-120650881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138443175	chr4:120650889-120650890	Weak transcription 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
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
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD
small cell lung cancer	20016488	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120642800-120650200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:120644200-120650000	Weak transcription	Liver	Liver
3	chr4:120644200-120650000	Weak transcription	Psoas Muscle	Psoas
4	chr4:120646400-120650000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:120646400-120651400	Weak transcription	Pancreas	Pancrea
6	chr4:120646600-120649400	Enhancers	Osteobl	bone
7	chr4:120647200-120650200	Weak transcription	Fetal Lung	lung
8	chr4:120647400-120650000	Weak transcription	Aorta	Aorta
9	chr4:120647400-120650200	Weak transcription	Fetal Stomach	stomach
10	chr4:120647400-120650400	Weak transcription	Stomach Mucosa	stomach
11	chr4:120647600-120650000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:120647600-120651000	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:120647600-120651400	Weak transcription	Right Atrium	heart
14	chr4:120647600-120651600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:120647600-120651600	Weak transcription	Colonic Mucosa	Colon
16	chr4:120647600-120651800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:120647800-120650200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:120647800-120650200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:120647800-120651000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:120647800-120651400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:120647800-120652200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:120648000-120651000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:120648200-120649600	Weak transcription	NHLF	lung
24	chr4:120648200-120650200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:120648400-120650000	Weak transcription	HSMM	muscle
26	chr4:120648400-120650000	Weak transcription	NH-A	brain
27	chr4:120648400-120650200	Weak transcription	HSMMtube	muscle
28	chr4:120648800-120650000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr4:120648800-120650200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:120648800-120650200	Weak transcription	NHDF-Ad	bronchial
31	chr4:120648800-120651800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:120649000-120649400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:120649200-120649600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:120649400-120649800	Weak transcription	Osteobl	bone
35	chr4:120649400-120651000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:120649400-120653000	Enhancers	Hela-S3	cervix
37	chr4:120649600-120658200	Enhancers	NHLF	lung
38	chr4:120649800-120653200	Enhancers	Osteobl	bone
39	chr4:120650000-120650200	ZNF genes & repeats	Liver	Liver
40	chr4:120650000-120650200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:120650000-120650200	Enhancers	Psoas Muscle	Psoas
42	chr4:120650000-120650400	Enhancers	Aorta	Aorta
43	chr4:120650000-120650400	Enhancers	Placenta	Placenta
44	chr4:120650000-120650600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:120650000-120651200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr4:120650000-120651600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr4:120650000-120653000	Enhancers	NH-A	brain
48	chr4:120650000-120653400	Enhancers	HSMM	muscle
49	chr4:120650200-120650400	Enhancers	Fetal Stomach	stomach
50	chr4:120650200-120650400	Enhancers	Left Ventricle	heart

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