Variant report

Variant	nsv1009771
Chromosome Location	chr4:120590902-120665812
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:11)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:120549837..120550682-chr4:120652400..120652958,2	MCF-7	breast:
2	chr4:120548112..120549815-chr4:120627740..120630538,2	MCF-7	breast:
3	chr4:120648083..120649725-chr4:120663986..120665688,2	MCF-7	breast:
4	chr4:120596527..120599476-chr4:120602386..120604246,2	K562	blood:
5	chr4:120596527..120599476-chr4:120602386..120604246,2	K562	blood:
6	chr4:120620209..120622395-chr4:120625865..120628325,2	K562	blood:
7	chr4:120628103..120631011-chr4:120987258..120989311,2	MCF-7	breast:
8	chr4:120648083..120649725-chr4:120663986..120665688,2	MCF-7	breast:
9	chr4:120620209..120622395-chr4:120625865..120628325,2	K562	blood:
10	chr4:120623553..120626100-chr4:120629562..120632070,2	MCF-7	breast:
11	chr4:120623553..120626100-chr4:120629562..120632070,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-4	chr4:120597484-120597814	XLOC_003669
2	lnc-AC110373.1-10	chr4:120653416-120653523	ucscGeneNc_uc003idi_2
3	lnc-AC110373.1-4	chr4:120610321-120610372	XLOC_003669
4	lnc-AC110373.1-10	chr4:120652954-120653067	ucscGeneNc_uc003idi_2

No data

Variant related genes	Relation type
ENSG00000138735	chromatin interactions
ENSG00000164109	chromatin interactions
ENSG00000250938	chromatin interactions

Extended variants
information (count: 2515 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2515 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7441168	chr4:120590902-120590903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542559225	chr4:120590967-120590968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550181829	chr4:120591042-120591043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562419187	chr4:120591066-120591067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531239546	chr4:120591072-120591073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544616808	chr4:120591092-120591093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372616202	chr4:120591193-120591194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139157598	chr4:120591238-120591239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373744202	chr4:120591287-120591288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149500870	chr4:120591359-120591360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62321169	chr4:120591368-120591369	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs543058157	chr4:120591484-120591485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184268263	chr4:120591490-120591491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144020084	chr4:120591532-120591533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550525062	chr4:120591575-120591576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10007021	chr4:120591584-120591585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539304838	chr4:120591726-120591727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189552324	chr4:120591875-120591876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566023524	chr4:120591902-120591903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4834798	chr4:120591919-120591920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs4146267	chr4:120591943-120591944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572512362	chr4:120591947-120591948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534791533	chr4:120591974-120591975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536021205	chr4:120591988-120591989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555072732	chr4:120592098-120592099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4146269	chr4:120592100-120592101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs116475993	chr4:120592105-120592106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140638221	chr4:120592123-120592124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571999208	chr4:120592133-120592134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540817353	chr4:120592139-120592140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144513087	chr4:120592155-120592156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560944522	chr4:120592171-120592172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555033195	chr4:120592177-120592178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542823768	chr4:120592190-120592191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201286232	chr4:120592194-120592195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199685529	chr4:120592198-120592199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4834800	chr4:120592199-120592200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182135792	chr4:120592207-120592208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371686503	chr4:120592239-120592240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532864128	chr4:120592254-120592255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552825013	chr4:120592321-120592322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565985242	chr4:120592344-120592345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4834801	chr4:120592389-120592390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548425250	chr4:120592480-120592481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568229366	chr4:120592574-120592575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537116678	chr4:120592588-120592589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555940513	chr4:120592591-120592592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544949387	chr4:120592601-120592602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575794652	chr4:120592662-120592663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538599211	chr4:120592705-120592706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Myelodysplastic syndrome	18508791	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120577600-120605000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:120578800-120592800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:120586400-120592600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:120588200-120592600	Weak transcription	Osteobl	bone
5	chr4:120589400-120591000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:120589400-120592600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:120589400-120599800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:120589600-120599800	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:120589800-120593800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:120590000-120592600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:120590000-120593600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:120590400-120592800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:120591000-120591800	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:120591800-120592200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:120592200-120594600	Enhancers	Rectal Smooth Muscle	rectum
16	chr4:120592600-120592800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr4:120592600-120593000	Enhancers	Osteobl	bone
18	chr4:120592600-120593200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:120592600-120594400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:120592800-120593000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:120592800-120595400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:120593000-120593400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:120593400-120594600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:120593400-120594800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:120593400-120594800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:120593600-120594800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:120593800-120594800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:120593800-120594800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:120594400-120599800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:120594600-120599800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:120594800-120597000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:120596600-120596800	Weak transcription	Fetal Stomach	stomach
33	chr4:120596800-120597200	Enhancers	Fetal Lung	lung
34	chr4:120596800-120597400	Enhancers	Fetal Stomach	stomach
35	chr4:120597000-120597200	Weak transcription	NHLF	lung
36	chr4:120597000-120597400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:120597200-120597400	Enhancers	NHLF	lung
38	chr4:120597200-120599800	Weak transcription	Fetal Lung	lung
39	chr4:120597400-120599800	Weak transcription	Fetal Stomach	stomach
40	chr4:120597400-120599800	Weak transcription	NHLF	lung
41	chr4:120599600-120599800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:120599600-120599800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:120599600-120599800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:120599600-120599800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:120599600-120599800	Enhancers	Osteobl	bone
46	chr4:120599800-120600000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:120599800-120600000	Enhancers	Fetal Stomach	stomach
48	chr4:120599800-120600000	Active TSS	NHDF-Ad	bronchial
49	chr4:120599800-120600200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:120599800-120600200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links