Variant report

Variant	nsv508309
Chromosome Location	chr4:122663791-122680645
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:122659671..122662729-chr4:122664166..122666921,4	K562	blood:
2	chr4:122641024..122642769-chr4:122664800..122667118,2	K562	blood:
3	chr4:122640478..122642769-chr4:122664127..122666300,2	K562	blood:
4	chr4:122675401..122678000-chr4:122678051..122680477,2	K562	blood:
5	chr4:122672244..122674867-chr4:122697032..122699058,2	K562	blood:
6	chr4:122675401..122678000-chr4:122678051..122680477,2	K562	blood:
7	chr4:122617200..122619781-chr4:122669390..122672275,2	K562	blood:
8	chr4:122658895..122661532-chr4:122664516..122666924,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164111	chromatin interactions

Extended variants
information (count: 608 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538388791	chr4:122663834-122663835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563455312	chr4:122663864-122663865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192974481	chr4:122663907-122663908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28618203	chr4:122663935-122663936	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs57316471	chr4:122663939-122663940	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs201827227	chr4:122663949-122663950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184166714	chr4:122663961-122663962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188238520	chr4:122663982-122663983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533883008	chr4:122664022-122664023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111638281	chr4:122664031-122664032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562776882	chr4:122664036-122664037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150931896	chr4:122664061-122664062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545150018	chr4:122664099-122664100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28433617	chr4:122664138-122664139	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs533462645	chr4:122664139-122664140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28529384	chr4:122664215-122664216	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs181727493	chr4:122664241-122664242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112442863	chr4:122664247-122664248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28640980	chr4:122664284-122664285	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs569493489	chr4:122664289-122664290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72913960	chr4:122664295-122664296	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs28532673	chr4:122664323-122664324	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs34949254	chr4:122664344-122664345	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs558929134	chr4:122664355-122664356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116654405	chr4:122664382-122664383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34952897	chr4:122664409-122664410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs35066787	chr4:122664497-122664498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs541386853	chr4:122664514-122664515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140747763	chr4:122664522-122664523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35986491	chr4:122664528-122664529	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs35249024	chr4:122664538-122664539	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs146901118	chr4:122664566-122664567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6845842	chr4:122664634-122664635	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs35224452	chr4:122664677-122664678	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs560524442	chr4:122664682-122664683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113044528	chr4:122664685-122664686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35231381	chr4:122664686-122664687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386679103	chr4:122664687-122664688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199759605	chr4:122664688-122664689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34280664	chr4:122664689-122664690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543717572	chr4:122664725-122664726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35901586	chr4:122664757-122664758	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs184736575	chr4:122664767-122664768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10016433	chr4:122664771-122664772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs10005932	chr4:122664782-122664783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs6846232	chr4:122664805-122664806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs139383122	chr4:122664808-122664809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6823488	chr4:122664819-122664820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs547581332	chr4:122664823-122664824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536006163	chr4:122664832-122664833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122661400-122664400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:122661400-122665400	Enhancers	Fetal Heart	heart
3	chr4:122662000-122664400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:122662000-122664400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:122662200-122664200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:122662200-122664400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:122662600-122664000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:122662800-122664200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:122663000-122668800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:122663200-122664400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:122663400-122663800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:122663400-122672800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:122664000-122664400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr4:122664000-122664400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:122664000-122664400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:122664200-122664400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:122664400-122668800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:122664400-122668800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:122664400-122668800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:122664400-122668800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:122664400-122668800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:122668800-122669000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:122668800-122669000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:122668800-122669000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr4:122668800-122669000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:122668800-122669200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
27	chr4:122668800-122669200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr4:122668800-122669200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:122668800-122669200	Enhancers	Gastric	stomach
30	chr4:122668800-122670000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:122668800-122670200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
32	chr4:122668800-122670200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr4:122668800-122670400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr4:122668800-122670400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr4:122669000-122670400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr4:122669200-122669400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:122669200-122670000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:122669400-122670400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:122670000-122670200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr4:122670000-122670400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr4:122670000-122670400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr4:122670000-122670800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:122670200-122670400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr4:122670200-122670400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr4:122670200-122670800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
46	chr4:122670200-122670800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:122670200-122670800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:122670200-122670800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr4:122670200-122670800	Enhancers	K562	blood
50	chr4:122670400-122670600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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