Variant report

Variant	nsv879871
Chromosome Location	chr4:124437842-124527958
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:63)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:124511066..124512663-chr4:124513000..124515714,2	MCF-7	breast:
2	chr4:124485623..124486524-chr4:124581998..124582924,2	MCF-7	breast:
3	chr4:124513485..124516385-chr4:124520416..124522940,2	K562	blood:
4	chr4:124508006..124510806-chr4:124513014..124515625,2	K562	blood:
5	chr4:124468379..124470868-chr4:124475670..124478553,3	MCF-7	breast:
6	chr4:124470991..124473666-chr4:124474843..124477513,2	MCF-7	breast:
7	chr4:124513485..124516385-chr4:124520416..124522940,2	K562	blood:
8	chr4:124488375..124491200-chr4:124493544..124495859,2	K562	blood:
9	chr4:124318789..124321443-chr4:124465757..124468753,3	MCF-7	breast:
10	chr4:124474240..124477049-chr4:124479900..124483134,3	MCF-7	breast:
11	chr4:124485760..124486587-chr4:124509536..124510099,2	MCF-7	breast:
12	chr4:124473977..124476757-chr4:124478680..124481463,3	K562	blood:
13	chr4:124441402..124444373-chr4:124445664..124447587,3	K562	blood:
14	chr4:124427654..124430498-chr4:124440041..124442274,2	MCF-7	breast:
15	chr4:124467727..124470642-chr4:124508683..124511442,3	MCF-7	breast:
16	chr4:124430557..124431288-chr4:124486036..124486567,2	MCF-7	breast:
17	chr4:124446716..124449405-chr4:124451822..124454749,2	MCF-7	breast:
18	chr4:124396584..124398917-chr4:124462913..124464878,2	MCF-7	breast:
19	chr4:124485427..124486524-chr4:124580578..124581744,8	MCF-7	breast:
20	chr4:124316611..124318334-chr4:124447544..124449573,2	MCF-7	breast:
21	chr4:124445210..124447431-chr4:124475795..124477882,2	MCF-7	breast:
22	chr4:124511066..124512663-chr4:124513000..124515714,2	MCF-7	breast:
23	chr4:124318897..124319845-chr4:124485723..124486558,2	MCF-7	breast:
24	chr4:124488375..124491200-chr4:124493544..124495859,2	K562	blood:
25	chr12:33531068..33531588-chr4:124485616..124486233,2	MCF-7	breast:
26	chr4:124485658..124486578-chr4:124582431..124582959,2	K562	blood:
27	chr4:124445210..124447431-chr4:124475795..124477882,2	MCF-7	breast:
28	chr4:124446690..124448724-chr4:124451290..124453343,2	K562	blood:
29	chr4:124023944..124025068-chr4:124485664..124486555,3	MCF-7	breast:
30	chr4:124516703..124518266-chr4:124519993..124521900,2	K562	blood:
31	chr16:30644216..30645999-chr4:124507592..124509097,2	MCF-7	breast:
32	chr4:124516703..124518266-chr4:124519993..124521900,2	K562	blood:
33	chr4:124476843..124477399-chr4:124485940..124486580,2	MCF-7	breast:
34	chr4:124473977..124476757-chr4:124478680..124481463,3	K562	blood:
35	chr4:124441402..124444373-chr4:124445664..124447587,3	K562	blood:
36	chr4:124499913..124502167-chr4:124505033..124506646,2	K562	blood:
37	chr4:124317615..124319734-chr4:124466882..124469330,3	MCF-7	breast:
38	chr4:124510049..124512763-chr4:124512907..124515575,3	K562	blood:
39	chr4:124499913..124502167-chr4:124505033..124506646,2	K562	blood:
40	chr4:124469682..124473257-chr4:124473946..124477600,3	K562	blood:
41	chr4:124469682..124473257-chr4:124473946..124477600,3	K562	blood:
42	chr4:124426846..124429708-chr4:124483364..124486101,2	MCF-7	breast:
43	chr4:124315696..124318110-chr4:124519353..124521814,2	MCF-7	breast:
44	chr4:124499445..124502167-chr4:124505033..124507527,3	K562	blood:
45	chr4:124442981..124445050-chr4:124447093..124449897,2	K562	blood:
46	chr4:124446716..124449405-chr4:124451822..124454749,2	MCF-7	breast:
47	chr4:124499445..124502167-chr4:124505033..124507527,3	K562	blood:
48	chr4:124510049..124512763-chr4:124512907..124515575,3	K562	blood:
49	chr4:124485760..124486587-chr4:124509536..124510099,2	MCF-7	breast:
50	chr4:124467727..124470642-chr4:124508683..124511442,3	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT6-1	chr4:124457519-124457636	XLOC_004060
2	lnc-SPRY1-1	chr4:124447518-124447656	XLOC_003680
3	lnc-SPRY1-1	chr4:124447059-124447252	FPKM1_group_24026_transcript_4
4	lnc-SPRY1-1	chr4:124447059-124448998	NONHSAT098191
5	lnc-SPRY1-1	chr4:124448339-124448834	XLOC_003680
6	lnc-SPRY1-1	chr4:124445842-124446948	FPKM1_group_24026_transcript_4
7	lnc-NUDT6-1	chr4:124454586-124455013	XLOC_004060
8	lnc-SPRY1-1	chr4:124447518-124447656	XLOC_003680
9	lnc-SPRY1-1	chr4:124448339-124448680	XLOC_003680
10	lnc-SPRY1-1	chr4:124443172-124443261	XLOC_003680
11	lnc-SPRY1-1	chr4:124445842-124446948	NONHSAT098191
12	lnc-SPRY1-1	chr4:124444406-124444474	NONHSAT098184

No data

Variant related genes	Relation type
ENSG00000164056	chromatin interactions
CAB39	miRNA target sites

Extended variants
information (count: 3364 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:3364 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1993191	chr4:124437842-124437843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536878600	chr4:124437843-124437844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556370478	chr4:124437855-124437856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576096354	chr4:124437880-124437881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545122045	chr4:124437983-124437984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17007029	chr4:124438118-124438119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572115839	chr4:124438159-124438160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575589262	chr4:124438197-124438198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561280192	chr4:124438211-124438212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76809876	chr4:124438268-124438269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549981672	chr4:124438318-124438319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35041662	chr4:124438321-124438322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560339722	chr4:124438336-124438337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532365695	chr4:124438340-124438341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542969233	chr4:124438377-124438378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563487888	chr4:124438404-124438405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189797712	chr4:124438437-124438438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369440080	chr4:124438438-124438439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552311483	chr4:124438452-124438453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141833838	chr4:124438494-124438495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72684701	chr4:124438530-124438531	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534662119	chr4:124438611-124438612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547751587	chr4:124438626-124438627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7665122	chr4:124438636-124438637	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536562213	chr4:124438727-124438728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556313695	chr4:124438757-124438758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78351029	chr4:124438811-124438812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11440190	chr4:124438812-124438813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2014110	chr4:124438819-124438820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538704847	chr4:124438825-124438826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537528458	chr4:124438829-124438830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558665352	chr4:124438830-124438831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572102365	chr4:124438833-124438834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557798964	chr4:124438863-124438864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541441507	chr4:124438869-124438870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561009067	chr4:124438919-124438920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7692085	chr4:124438947-124438948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192549966	chr4:124438950-124438951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7692089	chr4:124438954-124438955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7691931	chr4:124438955-124438956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62323454	chr4:124438956-124438957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7692253	chr4:124438974-124438975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147225091	chr4:124438975-124438976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7692581	chr4:124438978-124438979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7670491	chr4:124439001-124439002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7692099	chr4:124439006-124439007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532389602	chr4:124439042-124439043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552299103	chr4:124439043-124439044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559519734	chr4:124439078-124439079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376783451	chr4:124439174-124439175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1174 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124428000-124471800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:124430400-124442600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:124437200-124438600	Enhancers	Fetal Kidney	kidney
4	chr4:124437800-124438600	Enhancers	Fetal Muscle Leg	muscle
5	chr4:124438200-124438400	Enhancers	HSMMtube	muscle
6	chr4:124438400-124438800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:124438600-124440800	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:124438600-124443400	Weak transcription	Fetal Kidney	kidney
9	chr4:124438800-124439200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:124439200-124439400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:124439400-124440400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:124439600-124443200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:124440800-124442000	Enhancers	Fetal Muscle Leg	muscle
14	chr4:124442000-124443200	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:124442600-124443600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:124443000-124444200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:124443200-124443600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:124443200-124443600	Enhancers	Fetal Muscle Leg	muscle
19	chr4:124443200-124444200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:124443200-124444200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:124443200-124444600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr4:124443200-124444800	Enhancers	Fetal Stomach	stomach
23	chr4:124443400-124444200	Enhancers	Fetal Kidney	kidney
24	chr4:124443600-124444000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:124443600-124444600	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:124443800-124444200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:124444000-124444200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:124444200-124449400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:124444600-124445000	Enhancers	Fetal Muscle Leg	muscle
30	chr4:124444800-124446000	Weak transcription	Fetal Stomach	stomach
31	chr4:124445000-124449600	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:124445800-124446800	Enhancers	HepG2	liver
33	chr4:124446000-124446600	Enhancers	Stomach Mucosa	stomach
34	chr4:124446200-124446600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr4:124446400-124446600	Enhancers	Fetal Stomach	stomach
36	chr4:124446800-124449400	Weak transcription	HepG2	liver
37	chr4:124449400-124449800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:124449400-124450200	Enhancers	Colonic Mucosa	Colon
39	chr4:124449400-124451200	Enhancers	HepG2	liver
40	chr4:124449400-124451800	Enhancers	Fetal Intestine Large	intestine
41	chr4:124449600-124449800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr4:124449600-124450200	Enhancers	Fetal Muscle Leg	muscle
43	chr4:124449600-124451000	Enhancers	HMEC	breast
44	chr4:124449600-124451000	Enhancers	NHEK	skin
45	chr4:124449600-124451200	Enhancers	Fetal Intestine Small	intestine
46	chr4:124449800-124450200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr4:124449800-124450400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr4:124449800-124450800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:124449800-124451000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:124449800-124451000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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