Variant report

Variant	nsv964046
Chromosome Location	chr4:57367803-57369325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:57368187-57368318	HepG2	liver:	n/a	n/a
2	POLR2A	chr4:57368745-57369163	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:57368865-57369064	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:57368753-57369065	K562	blood:	n/a	n/a
5	POLR2A	chr4:57369066-57369141	K562	blood:	n/a	n/a
6	POLR2A	chr4:57368874-57369022	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:57363740..57365752-chr4:57366897..57368422,2	K562	blood:
2	chr4:57334621..57337468-chr4:57366931..57368856,2	K562	blood:
3	chr4:57333730..57336121-chr4:57366931..57369168,2	K562	blood:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SRP72	hsa-miR-16-5p	chr4:57369239-57369245
2	SRP72	hsa-miR-16-5p	chr4:57369225-57369246

Variant related genes	Relation type
ARL9	TF binding region
ENSG00000174780	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17086912	chr4:57367805-57367806	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76774105	chr4:57367809-57367810	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184026875	chr4:57367850-57367851	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374885631	chr4:57367944-57367945	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148068843	chr4:57368015-57368016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144710632	chr4:57368051-57368052	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532805167	chr4:57368094-57368095	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376631638	chr4:57368096-57368097	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552517317	chr4:57368123-57368124	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34516355	chr4:57368158-57368159	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs28438730	chr4:57368166-57368167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs11557082	chr4:57368184-57368185	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537974007	chr4:57368192-57368193	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs554702581	chr4:57368196-57368197	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs10051	chr4:57368200-57368201	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs188713088	chr4:57368221-57368222	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs553696434	chr4:57368239-57368240	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs149250989	chr4:57368248-57368249	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562813302	chr4:57368278-57368279	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs374228793	chr4:57368281-57368282	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs539700329	chr4:57368298-57368299	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs144366294	chr4:57368327-57368328	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs191238443	chr4:57368372-57368373	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544344186	chr4:57368381-57368382	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs15255	chr4:57368405-57368406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4260596	chr4:57368413-57368414	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs574549991	chr4:57368418-57368419	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541665813	chr4:57368434-57368435	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs28571922	chr4:57368450-57368451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7762	chr4:57368469-57368470	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528597051	chr4:57368507-57368508	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189419047	chr4:57368518-57368519	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562987091	chr4:57368532-57368533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547096984	chr4:57368540-57368541	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531946165	chr4:57368542-57368543	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548759986	chr4:57368553-57368554	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568178342	chr4:57368585-57368586	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201131530	chr4:57368631-57368632	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34859904	chr4:57368632-57368633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200531104	chr4:57368635-57368636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533845817	chr4:57368646-57368647	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs59791697	chr4:57368649-57368650	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200981113	chr4:57368662-57368663	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533133202	chr4:57368663-57368664	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547106940	chr4:57368664-57368665	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575256081	chr4:57368665-57368666	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs59952672	chr4:57368679-57368680	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532411300	chr4:57368701-57368702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs14211	chr4:57368759-57368760	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs569211420	chr4:57368783-57368784	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
early-passage human iPS cells	21368824	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
XY gonadal dysgenesis	20685758	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57334800-57371200	Weak transcription	Stomach Mucosa	stomach
2	chr4:57335200-57371400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:57335600-57370200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:57335800-57369200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:57335800-57370200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:57335800-57370800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:57336000-57369400	Strong transcription	Liver	Liver
8	chr4:57336000-57369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:57336000-57370000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:57336000-57370000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:57336000-57370200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:57336000-57371000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:57336200-57369200	Strong transcription	Fetal Thymus	thymus
14	chr4:57336200-57370000	Strong transcription	Placenta	Placenta
15	chr4:57336200-57370400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:57336400-57368200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr4:57336400-57369200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:57336400-57369200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:57336400-57370200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:57336600-57369200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:57337200-57369200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:57337800-57369200	Strong transcription	Adipose Nuclei	Adipose
23	chr4:57337800-57369400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:57340800-57369000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:57342000-57370200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr4:57342400-57370800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:57342400-57371400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:57346000-57371400	Weak transcription	Pancreas	Pancrea
29	chr4:57352000-57371400	Weak transcription	Gastric	stomach
30	chr4:57352000-57371400	Weak transcription	Spleen	Spleen
31	chr4:57353800-57371400	Weak transcription	Fetal Brain Male	brain
32	chr4:57354600-57371400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr4:57355400-57369800	Weak transcription	Psoas Muscle	Psoas
34	chr4:57356600-57371400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:57357200-57368800	Weak transcription	Fetal Kidney	kidney
36	chr4:57357400-57371400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:57357400-57371800	Weak transcription	Small Intestine	intestine
38	chr4:57357600-57371400	Weak transcription	Brain Substantia Nigra	brain
39	chr4:57357800-57371200	Weak transcription	Colonic Mucosa	Colon
40	chr4:57358800-57368200	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:57359200-57371200	Weak transcription	Hela-S3	cervix
42	chr4:57360000-57368400	Strong transcription	Left Ventricle	heart
43	chr4:57360400-57371200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:57361200-57371400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:57362400-57371400	Weak transcription	Aorta	Aorta
46	chr4:57362400-57371400	Weak transcription	Esophagus	oesophagus
47	chr4:57362400-57371400	Weak transcription	Right Ventricle	heart
48	chr4:57362600-57371400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:57362600-57371400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr4:57362800-57371400	Weak transcription	Placenta Amnion	Placenta Amnion

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