Variant report

Variant	esv2754745
Chromosome Location	chr4:124698055-124770865
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:13)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:124702920..124705025-chr4:124707186..124709646,2	K562	blood:
2	chr4:124759565..124761746-chr4:124768373..124770897,2	MCF-7	breast:
3	chr4:124724821..124726500-chr4:124729716..124731857,2	MCF-7	breast:
4	chr4:124736170..124738647-chr4:124739394..124740977,2	K562	blood:
5	chr4:124699081..124701132-chr4:124702124..124704664,2	K562	blood:
6	chr13:39119197..39119961-chr4:124736001..124736518,2	MCF-7	breast:
7	chr4:124699081..124701132-chr4:124702124..124704664,2	K562	blood:
8	chr4:124736170..124738647-chr4:124739394..124740977,2	K562	blood:
9	chr4:124724821..124726500-chr4:124729716..124731857,2	MCF-7	breast:
10	chr4:124759565..124761746-chr4:124768373..124770897,2	MCF-7	breast:
11	chr4:124702920..124705025-chr4:124707186..124709646,2	K562	blood:
12	chr4:124752778..124755449-chr4:124757344..124759853,2	MCF-7	breast:
13	chr4:124752778..124755449-chr4:124757344..124759853,2	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRY1-2	chr4:124750250-124750342	ENSG00000249464
2	lnc-SPRY1-2	chr4:124750251-124751291	NONHSAT098195
3	lnc-SPRY1-6	chr4:124764801-124764942	NONHSAT098203
4	lnc-NUDT6-5	chr4:124708066-124708291	NONHSAT098202
5	lnc-SPRY1-6	chr4:124764536-124764636	NONHSAT098203
6	lnc-SPRY1-2	chr4:124750250-124750342	NONHSAT098194
7	lnc-SPRY1-2	chr4:124750250-124750342	NONHSAT098201
8	lnc-NUDT6-5	chr4:124707520-124707893	NONHSAT098202
9	lnc-SPRY1-2	chr4:124750250-124750342	ENSG00000249464
10	lnc-SPRY1-2	chr4:124750250-124750342	NONHSAT098199
11	lnc-SPRY1-2	chr4:124750250-124750342	ENSG00000249464

No data

Variant related genes	Relation type
ENSG00000236354	chromatin interactions
RPRD1A	miRNA target sites
TBC1D12	miRNA target sites
NUFIP1	miRNA target sites

Extended variants
information (count: 2327 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2327 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs919014	chr4:124698055-124698056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532782735	chr4:124698066-124698067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566947373	chr4:124698110-124698111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535981881	chr4:124698155-124698156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28503204	chr4:124698156-124698157	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568935205	chr4:124698193-124698194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140473622	chr4:124698266-124698267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150431903	chr4:124698282-124698283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145187518	chr4:124698309-124698310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115776178	chr4:124698327-124698328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553973618	chr4:124698333-124698334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142379394	chr4:124698424-124698425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147004587	chr4:124698452-124698453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528586746	chr4:124698490-124698491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548146552	chr4:124698517-124698518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76678751	chr4:124698586-124698587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182099051	chr4:124698621-124698622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186045628	chr4:124698676-124698677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138229482	chr4:124698677-124698678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111885963	chr4:124698854-124698855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533727016	chr4:124698855-124698856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192207529	chr4:124698895-124698896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3097926	chr4:124698910-124698911	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs3113384	chr4:124698977-124698978	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569739314	chr4:124698983-124698984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549083180	chr4:124698995-124698996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372048035	chr4:124699004-124699005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569047398	chr4:124699045-124699046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537930004	chr4:124699059-124699060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551409733	chr4:124699101-124699102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571542154	chr4:124699112-124699113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538783598	chr4:124699119-124699120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552087645	chr4:124699120-124699121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184045649	chr4:124699169-124699170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374280041	chr4:124699170-124699171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553738265	chr4:124699194-124699195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143747957	chr4:124699251-124699252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148773567	chr4:124699268-124699269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537630744	chr4:124699308-124699309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188635107	chr4:124699342-124699343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369646792	chr4:124699382-124699383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145921085	chr4:124699391-124699392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545118615	chr4:124699414-124699415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555654040	chr4:124699454-124699455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74686704	chr4:124699467-124699468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571903693	chr4:124699513-124699514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs963892	chr4:124699519-124699520	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560591031	chr4:124699548-124699549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376545114	chr4:124699569-124699570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529529019	chr4:124699602-124699603	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
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
Olfactory neuroblastoma	18408657	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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:909 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124687000-124704600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:124689600-124698200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:124689600-124698200	Weak transcription	Aorta	Aorta
4	chr4:124694200-124707800	Weak transcription	Pancreas	Pancrea
5	chr4:124696000-124698400	Weak transcription	HUVEC	blood vessel
6	chr4:124697000-124698200	Enhancers	GM12878-XiMat	blood
7	chr4:124697800-124698200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:124697800-124698600	Enhancers	Fetal Stomach	stomach
9	chr4:124697800-124699800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:124698000-124699200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:124698200-124698400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr4:124698200-124698800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:124698200-124699000	Enhancers	Brain Anterior Caudate	brain
14	chr4:124698200-124699000	Enhancers	Brain Hippocampus Middle	brain
15	chr4:124698400-124698800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr4:124698400-124698800	Enhancers	Psoas Muscle	Psoas
17	chr4:124698400-124698800	Enhancers	HUVEC	blood vessel
18	chr4:124698400-124699000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:124698400-124699000	Enhancers	Adipose Nuclei	Adipose
20	chr4:124698400-124699000	Enhancers	NHDF-Ad	bronchial
21	chr4:124698600-124698800	Enhancers	Right Atrium	heart
22	chr4:124698600-124699000	Enhancers	Brain Angular Gyrus	brain
23	chr4:124698600-124699000	Enhancers	Brain Cingulate Gyrus	brain
24	chr4:124698600-124699000	Enhancers	Ovary	ovary
25	chr4:124698600-124704800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:124698800-124703600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:124698800-124708000	Weak transcription	Right Atrium	heart
28	chr4:124699000-124703800	Weak transcription	NHDF-Ad	bronchial
29	chr4:124699200-124699800	Weak transcription	Ovary	ovary
30	chr4:124699200-124703800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:124699800-124703600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:124703600-124703800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:124703600-124703800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:124703600-124706400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:124703600-124708600	Enhancers	Osteobl	bone
36	chr4:124703600-124710000	Enhancers	NHLF	lung
37	chr4:124703800-124704000	Enhancers	Stomach Mucosa	stomach
38	chr4:124703800-124704600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:124703800-124704600	Weak transcription	Ovary	ovary
40	chr4:124703800-124704800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:124703800-124706200	Enhancers	NHDF-Ad	bronchial
42	chr4:124703800-124710200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:124704000-124708200	Weak transcription	Stomach Mucosa	stomach
44	chr4:124704000-124708400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:124704000-124709800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr4:124704400-124706000	Enhancers	NH-A	brain
47	chr4:124704600-124704800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:124704600-124704800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:124704600-124704800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:124704600-124704800	Enhancers	Psoas Muscle	Psoas

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