Variant report

Variant	nsv291773
Chromosome Location	chr4:87884343-87891031
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87854312..87856792-chr4:87888842..87891299,2	K562	blood:
2	chr4:87876506..87878557-chr4:87886269..87888945,2	K562	blood:
3	chr4:87856231..87859269-chr4:87886657..87889990,3	K562	blood:
4	chr4:87854534..87858113-chr4:87881394..87886236,9	K562	blood:
5	chr4:87877638..87879941-chr4:87882578..87885517,2	K562	blood:
6	chr4:87880314..87885431-chr4:87925237..87930359,11	K562	blood:
7	chr4:87885386..87887913-chr4:87890283..87891945,2	MCF-7	breast:
8	chr4:87853531..87856106-chr4:87889167..87893034,3	K562	blood:
9	chr4:87867715..87870000-chr4:87883212..87884800,2	K562	blood:
10	chr4:87875765..87890159-chr4:87922878..87933002,25	K562	blood:
11	chr4:87881202..87884789-chr4:87884979..87890767,11	K562	blood:
12	chr4:87887576..87890544-chr4:87927367..87929532,2	MCF-7	breast:
13	chr4:87882295..87884551-chr4:87895406..87897794,3	K562	blood:
14	chr4:87881072..87882876-chr4:87886883..87888744,2	MCF-7	breast:
15	chr4:87887515..87891253-chr4:87896887..87898835,3	MCF-7	breast:
16	chr4:87885386..87887913-chr4:87890283..87891945,2	MCF-7	breast:
17	chr4:87885535..87895894-chr4:87923652..87929924,15	K562	blood:
18	chr4:87877779..87879941-chr4:87884017..87885915,2	K562	blood:
19	chr4:87854986..87857497-chr4:87880594..87884426,5	MCF-7	breast:
20	chr4:87881889..87884650-chr4:87886335..87888542,3	K562	blood:
21	chr4:87890335..87892797-chr4:87926492..87928312,3	MCF-7	breast:
22	chr4:87852704..87859599-chr4:87881193..87886124,9	K562	blood:
23	chr4:87866938..87869563-chr4:87883119..87884691,2	K562	blood:
24	chr4:87885045..87886617-chr4:87888057..87889628,2	K562	blood:
25	chr4:87885045..87886617-chr4:87888057..87889628,2	K562	blood:
26	chr4:87881202..87884789-chr4:87884979..87890767,11	K562	blood:
27	chr4:87881889..87884650-chr4:87886335..87888542,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163633	chromatin interactions
ENSG00000172493	chromatin interactions

Extended variants
information (count: 248 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192241154	chr4:87884398-87884399	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs563311581	chr4:87884401-87884402	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs573208878	chr4:87884418-87884419	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs534297247	chr4:87884514-87884515	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs529163992	chr4:87884581-87884582	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs17012200	chr4:87884646-87884647	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs573877597	chr4:87884656-87884657	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs544528878	chr4:87884668-87884669	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs562812698	chr4:87884671-87884672	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs559128119	chr4:87884689-87884690	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528323838	chr4:87884701-87884702	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544633582	chr4:87884715-87884716	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368535794	chr4:87884718-87884719	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs560091883	chr4:87884728-87884729	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs115272206	chr4:87884750-87884751	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs12651081	chr4:87884766-87884767	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs374786241	chr4:87884817-87884818	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs71660104	chr4:87884952-87884953	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs531507018	chr4:87884979-87884980	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184574139	chr4:87885017-87885018	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs188418496	chr4:87885018-87885019	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs181236347	chr4:87885104-87885105	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs551531394	chr4:87885108-87885109	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs13124052	chr4:87885116-87885117	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs367995040	chr4:87885123-87885124	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs3035477	chr4:87885136-87885137	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs375391969	chr4:87885137-87885138	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs185683985	chr4:87885174-87885175	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534059017	chr4:87885184-87885185	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs555417388	chr4:87885206-87885207	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs188925478	chr4:87885217-87885218	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs571643813	chr4:87885280-87885281	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs538012949	chr4:87885311-87885312	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs556821686	chr4:87885313-87885314	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs578221940	chr4:87885317-87885318	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs545677380	chr4:87885329-87885330	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs553524724	chr4:87885349-87885350	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs7693889	chr4:87885401-87885402	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs542765932	chr4:87885422-87885423	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs560932400	chr4:87885423-87885424	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs531545446	chr4:87885457-87885458	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs567948362	chr4:87885459-87885460	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs543595073	chr4:87885464-87885465	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs535271926	chr4:87885485-87885486	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs7693780	chr4:87885516-87885517	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12650545	chr4:87885546-87885547	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs532344876	chr4:87885566-87885567	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs547654025	chr4:87885573-87885574	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs550078439	chr4:87885587-87885588	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs567637293	chr4:87885588-87885589	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	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
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	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
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87868400-87891800	Weak transcription	Esophagus	oesophagus
2	chr4:87868600-87886800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:87868600-87898000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:87869600-87886200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:87869800-87888000	Weak transcription	HUVEC	blood vessel
6	chr4:87869800-87894000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:87872600-87926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:87872800-87891400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:87876600-87886400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:87877400-87886200	Weak transcription	Hela-S3	cervix
11	chr4:87878800-87891600	Weak transcription	NHEK	skin
12	chr4:87879000-87884800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:87879600-87885400	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:87880000-87885000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:87881000-87884600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr4:87881000-87891800	Weak transcription	Lung	lung
17	chr4:87881000-87897600	Weak transcription	Brain Angular Gyrus	brain
18	chr4:87881200-87890000	Weak transcription	Aorta	Aorta
19	chr4:87881400-87884600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:87881600-87884400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:87881600-87884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:87882000-87884800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:87882000-87884800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:87882000-87888200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:87882000-87895400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:87882200-87884600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:87882200-87885400	Weak transcription	HSMMtube	muscle
28	chr4:87882200-87889800	Weak transcription	Pancreas	Pancrea
29	chr4:87882200-87891400	Weak transcription	Ovary	ovary
30	chr4:87882200-87895600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:87882400-87884600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:87882400-87884800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:87882400-87884800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr4:87882400-87886400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:87882400-87887200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr4:87882400-87893800	Weak transcription	Colonic Mucosa	Colon
37	chr4:87882400-87898600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:87882600-87884600	Weak transcription	HepG2	liver
39	chr4:87882600-87885000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:87882600-87886200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr4:87882600-87886800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:87882600-87891400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:87882600-87920200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:87882800-87884400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:87882800-87884400	Weak transcription	A549	lung
46	chr4:87882800-87886400	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:87882800-87887200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:87882800-87888200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr4:87882800-87888200	Weak transcription	Right Ventricle	heart
50	chr4:87882800-87889600	Weak transcription	Small Intestine	intestine

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