Variant report

Variant	nsv966541
Chromosome Location	chr4:120671470-120702965
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120687235..120689580-chr4:120690660..120692229,2	K562	blood:
2	chr4:120693336..120693874-chr8:146175674..146176413,2	HCT-116	colon:
3	chr4:120692868..120695733-chr4:120948622..120950761,2	K562	blood:
4	chr4:120687235..120689580-chr4:120690660..120692229,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-10	chr4:120692491-120692627	ucscGeneNc_uc003idi_2
2	lnc-AC110373.1-10	chr4:120690982-120691046	ucscGeneNc_uc003idi_2

No data

Variant related genes	Relation type
ENSG00000170631	chromatin interactions

Extended variants
information (count: 680 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552749309	chr4:120671505-120671506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148900425	chr4:120671526-120671527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528816542	chr4:120671533-120671534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548879003	chr4:120671540-120671541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182636656	chr4:120671587-120671588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143450336	chr4:120671593-120671594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187987583	chr4:120671615-120671616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557219033	chr4:120671623-120671624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570927825	chr4:120671626-120671627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191306829	chr4:120671668-120671669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs137863170	chr4:120671680-120671681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9998665	chr4:120671724-120671725	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs540952952	chr4:120671752-120671753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115848020	chr4:120671824-120671825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574143833	chr4:120671844-120671845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371996244	chr4:120671847-120671848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543410671	chr4:120671875-120671876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10023655	chr4:120671879-120671880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs527512546	chr4:120671910-120671911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368716683	chr4:120671917-120671918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532252015	chr4:120671930-120671931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545553216	chr4:120671947-120671948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142477534	chr4:120671965-120671966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145958662	chr4:120671974-120671975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548941652	chr4:120671999-120672000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545869070	chr4:120672024-120672025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74674120	chr4:120672072-120672073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531063441	chr4:120672120-120672121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550962593	chr4:120672141-120672142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115058834	chr4:120672158-120672159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79725334	chr4:120672213-120672214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553025336	chr4:120672248-120672249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565570328	chr4:120672368-120672369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534508552	chr4:120672385-120672386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554298546	chr4:120672391-120672392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371713472	chr4:120672399-120672400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72680987	chr4:120672472-120672473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs70948303	chr4:120672511-120672512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79113335	chr4:120672524-120672525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200058395	chr4:120672526-120672527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546847871	chr4:120672543-120672544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556938499	chr4:120672570-120672571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576741381	chr4:120672596-120672597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369141202	chr4:120672610-120672611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531562047	chr4:120672615-120672616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559483025	chr4:120672682-120672683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573523723	chr4:120672744-120672745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567143526	chr4:120672756-120672757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138575742	chr4:120672776-120672777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562222263	chr4:120672816-120672817	Enhancers Weak transcription	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120667600-120672800	Enhancers	Osteobl	bone
2	chr4:120668400-120671600	Weak transcription	Right Ventricle	heart
3	chr4:120668800-120672800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:120669400-120673600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:120670000-120672400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:120670200-120672400	Enhancers	Brain Germinal Matrix	brain
7	chr4:120670600-120671600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:120670600-120671800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:120670800-120671800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:120670800-120671800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:120670800-120671800	Weak transcription	NHDF-Ad	bronchial
12	chr4:120670800-120671800	Weak transcription	NHLF	lung
13	chr4:120671200-120672200	Enhancers	Fetal Heart	heart
14	chr4:120671400-120672400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:120671600-120672000	Enhancers	Right Ventricle	heart
16	chr4:120671600-120672000	Enhancers	NH-A	brain
17	chr4:120671600-120672200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:120671800-120672000	Enhancers	NHDF-Ad	bronchial
19	chr4:120671800-120672200	Enhancers	Fetal Brain Male	brain
20	chr4:120671800-120672200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr4:120671800-120672200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:120671800-120672800	Enhancers	NHLF	lung
23	chr4:120672000-120672200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:120672200-120672400	Enhancers	Rectal Smooth Muscle	rectum
25	chr4:120672200-120672600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:120672200-120676800	Weak transcription	Fetal Heart	heart
27	chr4:120672400-120677400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:120672600-120672800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:120672800-120673000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:120672800-120676800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:120676800-120677200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:120676800-120677200	Enhancers	Fetal Heart	heart
33	chr4:120677400-120677600	Bivalent Enhancer	HSMMtube	muscle
34	chr4:120677400-120677800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:120680600-120680800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:120680800-120684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:120687200-120687400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:120687400-120687800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:120690200-120695000	Weak transcription	Fetal Heart	heart
40	chr4:120690400-120690800	Enhancers	Osteobl	bone
41	chr4:120692800-120693200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:120695000-120696000	Enhancers	Fetal Heart	heart
43	chr4:120695000-120696800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:120695200-120696000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr4:120695200-120696000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:120695200-120696800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr4:120695400-120696000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr4:120695400-120696400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:120695800-120696200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr4:120695800-120696200	Enhancers	HUES6 Cell Line	embryonic stem cell

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