Variant report

Variant	nsv1031024
Chromosome Location	chr4:128152969-128264539
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:5)
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	chr4:128156891..128158963-chr4:128159166..128161627,2	K562	blood:
2	chr4:128198706..128201630-chr4:128702209..128703925,2	K562	blood:
3	chr4:128156891..128158963-chr4:128159166..128161627,2	K562	blood:
4	chr4:128261196..128264085-chr4:128269365..128271487,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MFSD8-10	chr4:128236937-128237053	l_2727_chr4:128235035-128237053_lung
2	lnc-MFSD8-10	chr4:128235709-128235871	l_2727_chr4:128235035-128237053_lung
3	lnc-MFSD8-10	chr4:128235036-128235081	l_2727_chr4:128235035-128237053_lung
4	lnc-MFSD8-9	chr4:128237736-128237864	l_2728_chr4:128237735-128492960_lung
5	lnc-MFSD8-9	chr4:128247240-128247379	l_2728_chr4:128237735-128492960_lung

No data

Variant related genes	Relation type
ENSG00000164070	chromatin interactions

Extended variants
information (count: 1674 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1674 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558091532	chr4:128152989-128152990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576605482	chr4:128153023-128153024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543639283	chr4:128153050-128153051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560554451	chr4:128153056-128153057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574002585	chr4:128153091-128153092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187358707	chr4:128153116-128153117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552958811	chr4:128153117-128153118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527603779	chr4:128153157-128153158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529477039	chr4:128153170-128153171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192271591	chr4:128153172-128153173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564207821	chr4:128153189-128153190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531572397	chr4:128153231-128153232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371248535	chr4:128153251-128153252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549708775	chr4:128153255-128153256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183098849	chr4:128153262-128153263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535140592	chr4:128153273-128153274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187777076	chr4:128153297-128153298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141353376	chr4:128153300-128153301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73846478	chr4:128153301-128153302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539025600	chr4:128153305-128153306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367871145	chr4:128153312-128153313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4833373	chr4:128153316-128153317	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs77831417	chr4:128153319-128153320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72927268	chr4:128153412-128153413	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575324030	chr4:128153413-128153414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555639758	chr4:128153414-128153415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574197377	chr4:128153421-128153422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546012346	chr4:128153448-128153449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541508407	chr4:128153450-128153451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79331650	chr4:128153464-128153465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4834185	chr4:128153471-128153472	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs192204294	chr4:128153474-128153475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570900419	chr4:128153513-128153514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114557658	chr4:128153517-128153518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531462233	chr4:128153543-128153544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184530327	chr4:128153559-128153560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138880718	chr4:128153689-128153690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528979827	chr4:128153706-128153707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547118626	chr4:128153767-128153768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565421961	chr4:128153870-128153871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532806388	chr4:128153922-128153923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372447896	chr4:128153924-128153925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551042724	chr4:128153984-128153985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570337026	chr4:128154006-128154007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553807076	chr4:128154029-128154030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555949876	chr4:128154040-128154041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76336493	chr4:128154056-128154057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189296649	chr4:128154070-128154071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535213074	chr4:128154074-128154075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567382591	chr4:128154082-128154083	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
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
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
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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128151600-128160400	Weak transcription	Fetal Stomach	stomach
2	chr4:128152200-128157800	Weak transcription	Fetal Lung	lung
3	chr4:128152800-128153400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:128153400-128153800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:128153400-128154800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:128153800-128155000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:128154800-128155400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:128155200-128155400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:128157600-128162000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:128157800-128159200	Enhancers	NHDF-Ad	bronchial
11	chr4:128157800-128160400	Enhancers	Fetal Lung	lung
12	chr4:128158000-128158200	Enhancers	Colon Smooth Muscle	Colon
13	chr4:128158000-128158200	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:128158200-128159000	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:128158600-128158800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:128158800-128160400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:128159000-128159200	Enhancers	Colon Smooth Muscle	Colon
18	chr4:128159200-128160200	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:128159200-128161400	Weak transcription	NHDF-Ad	bronchial
20	chr4:128160200-128160600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:128160200-128162400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:128160400-128160600	Enhancers	Colon Smooth Muscle	Colon
23	chr4:128160400-128160600	Enhancers	Fetal Stomach	stomach
24	chr4:128160400-128162200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:128161400-128162400	Enhancers	NHDF-Ad	bronchial
26	chr4:128162000-128162400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:128162400-128162600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:128162400-128167000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:128162600-128170000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:128163600-128164000	Enhancers	Spleen	Spleen
31	chr4:128166800-128167400	Enhancers	Adipose Nuclei	Adipose
32	chr4:128167000-128167400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:128168200-128168800	Enhancers	K562	blood
34	chr4:128170000-128171000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:128170000-128171000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:128170000-128171000	Enhancers	Osteobl	bone
37	chr4:128170000-128172800	Enhancers	HMEC	breast
38	chr4:128170200-128170800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:128170200-128170800	Enhancers	NHDF-Ad	bronchial
40	chr4:128170200-128171200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:128170400-128171000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:128170600-128171000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:128171000-128171400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:128171000-128172000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:128171200-128172200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:128171400-128172200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:128172000-128172600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:128172200-128173000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:128172600-128173400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:128172800-128173000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links