Variant report

Variant	nsv879872
Chromosome Location	chr4:124441989-124527958
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	chr4:124467727..124470642-chr4:124508683..124511442,3	MCF-7	breast:
2	chr4:124485760..124486587-chr4:124509536..124510099,2	MCF-7	breast:
3	chr4:124441402..124444373-chr4:124445664..124447587,3	K562	blood:
4	chr4:124430208..124432357-chr4:124468021..124469890,2	MCF-7	breast:
5	chr4:124476843..124477399-chr4:124485940..124486580,2	MCF-7	breast:
6	chr4:124521015..124523686-chr4:124532382..124534861,2	K562	blood:
7	chr4:124467727..124470642-chr4:124508683..124511442,3	MCF-7	breast:
8	chr4:124513485..124516385-chr4:124520416..124522940,2	K562	blood:
9	chr4:124521275..124523709-chr4:124536062..124537682,2	K562	blood:
10	chr4:124510049..124512763-chr4:124512907..124515575,3	K562	blood:
11	chr4:124485658..124486578-chr4:124582431..124582959,2	K562	blood:
12	chr4:124469682..124473257-chr4:124473946..124477600,3	K562	blood:
13	chr4:124023944..124025068-chr4:124485664..124486555,3	MCF-7	breast:
14	chr4:124511066..124512663-chr4:124513000..124515714,2	MCF-7	breast:
15	chr4:124445210..124447431-chr4:124475795..124477882,2	MCF-7	breast:
16	chr4:124499445..124502167-chr4:124505033..124507527,3	K562	blood:
17	chr4:124446716..124449405-chr4:124451822..124454749,2	MCF-7	breast:
18	chr4:124516703..124518266-chr4:124519993..124521900,2	K562	blood:
19	chr4:124499913..124502167-chr4:124505033..124506646,2	K562	blood:
20	chr4:124516703..124518266-chr4:124519993..124521900,2	K562	blood:
21	chr4:124474240..124477049-chr4:124479900..124483134,3	MCF-7	breast:
22	chr4:124524644..124527323-chr4:144255705..144257566,2	MCF-7	breast:
23	chr4:124318789..124321443-chr4:124465757..124468753,3	MCF-7	breast:
24	chr4:124470991..124473666-chr4:124474843..124477513,2	MCF-7	breast:
25	chr4:124485427..124486524-chr4:124580578..124581744,8	MCF-7	breast:
26	chr4:124470991..124473666-chr4:124474843..124477513,2	MCF-7	breast:
27	chr4:124488375..124491200-chr4:124493544..124495859,2	K562	blood:
28	chr4:124426846..124429708-chr4:124483364..124486101,2	MCF-7	breast:
29	chr4:124446690..124448724-chr4:124451290..124453343,2	K562	blood:
30	chr4:124474240..124477049-chr4:124479900..124483134,3	MCF-7	breast:
31	chr4:124486074..124486592-chr4:125032707..125033420,2	MCF-7	breast:
32	chr4:124468379..124470868-chr4:124475670..124478553,3	MCF-7	breast:
33	chr4:124315696..124318110-chr4:124519353..124521814,2	MCF-7	breast:
34	chr4:124446690..124448724-chr4:124451290..124453343,2	K562	blood:
35	chr12:33531068..33531588-chr4:124485616..124486233,2	MCF-7	breast:
36	chr4:124445210..124447431-chr4:124475795..124477882,2	MCF-7	breast:
37	chr4:124499445..124502167-chr4:124505033..124507527,3	K562	blood:
38	chr4:124485760..124486587-chr4:124509536..124510099,2	MCF-7	breast:
39	chr4:124513485..124516385-chr4:124520416..124522940,2	K562	blood:
40	chr4:124318897..124319845-chr4:124485723..124486558,2	MCF-7	breast:
41	chr4:124510049..124512763-chr4:124512907..124515575,3	K562	blood:
42	chr4:124311780..124312441-chr4:124485398..124486381,2	MCF-7	breast:
43	chr4:124508006..124510806-chr4:124513014..124515625,2	K562	blood:
44	chr4:124430557..124431288-chr4:124486036..124486567,2	MCF-7	breast:
45	chr4:124468379..124470868-chr4:124475670..124478553,3	MCF-7	breast:
46	chr4:124485623..124486524-chr4:124581998..124582924,2	MCF-7	breast:
47	chr4:124499913..124502167-chr4:124505033..124506646,2	K562	blood:
48	chr4:124317615..124319734-chr4:124466882..124469330,3	MCF-7	breast:
49	chr4:124508006..124510806-chr4:124513014..124515625,2	K562	blood:
50	chr4:124446716..124449405-chr4:124451822..124454749,2	MCF-7	breast:

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

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

No data

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

Extended variants
information (count: 3208 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:3208 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6534412	chr4:124441989-124441990	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138211728	chr4:124441993-124441994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531172150	chr4:124442001-124442002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143927598	chr4:124442017-124442018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184071782	chr4:124442026-124442027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188177593	chr4:124442076-124442077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150836692	chr4:124442078-124442079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370200078	chr4:124442080-124442081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546640603	chr4:124442121-124442122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566878212	chr4:124442137-124442138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147240882	chr4:124442179-124442180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535887808	chr4:124442230-124442231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536178188	chr4:124442250-124442251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139008538	chr4:124442257-124442258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568700594	chr4:124442258-124442259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537694141	chr4:124442382-124442383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557416739	chr4:124442412-124442413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143005089	chr4:124442413-124442414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533910911	chr4:124442414-124442415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12503335	chr4:124442427-124442428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573594684	chr4:124442490-124442491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57940178	chr4:124442572-124442573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs11349653	chr4:124442584-124442585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540593250	chr4:124442585-124442586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559411960	chr4:124442596-124442597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148702207	chr4:124442638-124442639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575886931	chr4:124442645-124442646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142164597	chr4:124442660-124442661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564682871	chr4:124442716-124442717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183863029	chr4:124442733-124442734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188689975	chr4:124442797-124442798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375535727	chr4:124442812-124442813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77325551	chr4:124442834-124442835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191197584	chr4:124442837-124442838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548862061	chr4:124442883-124442884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184542996	chr4:124443059-124443060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78924128	chr4:124443073-124443074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545542746	chr4:124443087-124443088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531517660	chr4:124443192-124443193	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs551135237	chr4:124443238-124443239	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs571113619	chr4:124443258-124443259	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs369787517	chr4:124443264-124443265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150779171	chr4:124443294-124443295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553874433	chr4:124443296-124443297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17007046	chr4:124443299-124443300	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs34346320	chr4:124443303-124443304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536275560	chr4:124443406-124443407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556077793	chr4:124443422-124443423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139085265	chr4:124443423-124443424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17007051	chr4:124443473-124443474	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:1166 , 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	chr4:124438600-124443400	Weak transcription	Fetal Kidney	kidney
4	chr4:124439600-124443200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:124440800-124442000	Enhancers	Fetal Muscle Leg	muscle
6	chr4:124442000-124443200	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:124442600-124443600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:124443000-124444200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:124443200-124443600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:124443200-124443600	Enhancers	Fetal Muscle Leg	muscle
11	chr4:124443200-124444200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:124443200-124444200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:124443200-124444600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:124443200-124444800	Enhancers	Fetal Stomach	stomach
15	chr4:124443400-124444200	Enhancers	Fetal Kidney	kidney
16	chr4:124443600-124444000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:124443600-124444600	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:124443800-124444200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:124444000-124444200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:124444200-124449400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:124444600-124445000	Enhancers	Fetal Muscle Leg	muscle
22	chr4:124444800-124446000	Weak transcription	Fetal Stomach	stomach
23	chr4:124445000-124449600	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:124445800-124446800	Enhancers	HepG2	liver
25	chr4:124446000-124446600	Enhancers	Stomach Mucosa	stomach
26	chr4:124446200-124446600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr4:124446400-124446600	Enhancers	Fetal Stomach	stomach
28	chr4:124446800-124449400	Weak transcription	HepG2	liver
29	chr4:124449400-124449800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:124449400-124450200	Enhancers	Colonic Mucosa	Colon
31	chr4:124449400-124451200	Enhancers	HepG2	liver
32	chr4:124449400-124451800	Enhancers	Fetal Intestine Large	intestine
33	chr4:124449600-124449800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr4:124449600-124450200	Enhancers	Fetal Muscle Leg	muscle
35	chr4:124449600-124451000	Enhancers	HMEC	breast
36	chr4:124449600-124451000	Enhancers	NHEK	skin
37	chr4:124449600-124451200	Enhancers	Fetal Intestine Small	intestine
38	chr4:124449800-124450200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr4:124449800-124450400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr4:124449800-124450800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:124449800-124451000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:124449800-124451000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:124449800-124451000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:124450000-124450400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:124450000-124450600	Enhancers	Duodenum Mucosa	Duodenum
46	chr4:124450000-124451000	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr4:124450200-124450800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr4:124450200-124451000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr4:124450600-124451000	Enhancers	Psoas Muscle	Psoas
50	chr4:124450800-124451200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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