Variant report

Variant	nsv522556
Chromosome Location	chr1:224061898-224075483
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224032805..224035351-chr1:224065902..224068634,2	MCF-7	breast:
2	chr1:224064706..224067481-chr1:224068167..224069755,2	MCF-7	breast:
3	chr1:224032494..224036254-chr1:224057433..224064259,8	K562	blood:
4	chr1:224070627..224072910-chr1:224076240..224077802,2	K562	blood:
5	chr1:224063820..224066455-chr1:224070379..224072043,2	K562	blood:
6	chr1:224061505..224063787-chr1:224074137..224075680,2	K562	blood:
7	chr1:224033263..224035344-chr1:224063361..224065777,2	MCF-7	breast:
8	chr1:224063820..224066455-chr1:224070379..224072043,2	K562	blood:
9	chr1:224000543..224002650-chr1:224066368..224067980,2	MCF-7	breast:
10	chr1:224064879..224067819-chr1:224073518..224075866,3	K562	blood:
11	chr1:224039824..224041644-chr1:224060638..224062824,2	K562	blood:
12	chr1:224061505..224063787-chr1:224074137..224075680,2	K562	blood:
13	chr1:224064706..224067481-chr1:224068167..224069755,2	MCF-7	breast:
14	chr1:224033607..224035143-chr1:224060636..224062476,2	MCF-7	breast:
15	chr1:224064879..224067819-chr1:224073518..224075866,3	K562	blood:
16	chr1:224051052..224053013-chr1:224064265..224066927,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143514	chromatin interactions
ENSG00000188460	chromatin interactions

Extended variants
information (count: 563 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2126389	chr1:224061898-224061899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544040013	chr1:224061935-224061936	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs559044584	chr1:224061939-224061940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566875785	chr1:224061956-224061957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182516446	chr1:224061961-224061962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541033812	chr1:224062083-224062084	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs61823612	chr1:224062117-224062118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530068071	chr1:224062129-224062130	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74662179	chr1:224062167-224062168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576089919	chr1:224062179-224062180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192129791	chr1:224062183-224062184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544769215	chr1:224062197-224062198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34759571	chr1:224062201-224062202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs397861197	chr1:224062203-224062204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549571039	chr1:224062270-224062271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs571228928	chr1:224062292-224062293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371368094	chr1:224062296-224062297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs10158345	chr1:224062306-224062307	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs547201477	chr1:224062315-224062316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs184173255	chr1:224062353-224062354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535908269	chr1:224062366-224062367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555261190	chr1:224062370-224062371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570366231	chr1:224062540-224062541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112419839	chr1:224062554-224062555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561262233	chr1:224062555-224062556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577400330	chr1:224062596-224062597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs72407727	chr1:224062649-224062650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs397792621	chr1:224062664-224062665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540885551	chr1:224062750-224062751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs190468510	chr1:224062755-224062756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs193217501	chr1:224062817-224062818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs184479269	chr1:224062818-224062819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574073373	chr1:224062828-224062829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189358705	chr1:224062848-224062849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372743595	chr1:224062855-224062856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531525192	chr1:224062876-224062877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143725030	chr1:224062883-224062884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370732523	chr1:224062974-224062975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565066944	chr1:224063001-224063002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368325040	chr1:224063002-224063003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs5781332	chr1:224063003-224063004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532250859	chr1:224063011-224063012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs397764200	chr1:224063012-224063013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs181442809	chr1:224063025-224063026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565647701	chr1:224063039-224063040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529666464	chr1:224063042-224063043	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548229636	chr1:224063120-224063121	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570329908	chr1:224063136-224063137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537725831	chr1:224063141-224063142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552624796	chr1:224063147-224063148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224057800-224062000	Enhancers	K562	blood
2	chr1:224060600-224063800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:224061400-224062000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:224062000-224062200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:224062000-224063800	Weak transcription	K562	blood
6	chr1:224063800-224064000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:224063800-224064200	ZNF genes & repeats	K562	blood
8	chr1:224064000-224064200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
9	chr1:224064000-224064200	Enhancers	NHEK	skin
10	chr1:224064200-224074400	Weak transcription	K562	blood
11	chr1:224071800-224072200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:224072000-224072200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:224072200-224072400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:224072200-224076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:224072200-224077000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:224072400-224076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:224073000-224077400	Enhancers	Liver	Liver
18	chr1:224073200-224074400	Enhancers	Pancreas	Pancrea
19	chr1:224073400-224075000	Enhancers	HepG2	liver
20	chr1:224073600-224076200	Enhancers	Psoas Muscle	Psoas
21	chr1:224074000-224074200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:224074000-224075400	Enhancers	Hela-S3	cervix
23	chr1:224074200-224074400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:224074200-224074600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:224074200-224075200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:224074200-224075400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:224074200-224075400	Enhancers	A549	lung
28	chr1:224074200-224076200	Enhancers	Fetal Muscle Leg	muscle
29	chr1:224074400-224074800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:224074400-224075000	Enhancers	NHEK	skin
31	chr1:224074400-224075200	Enhancers	HSMMtube	muscle
32	chr1:224074400-224075400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:224074400-224075400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:224074400-224075400	Enhancers	NHLF	lung
35	chr1:224074400-224075600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:224074400-224076200	Enhancers	Right Atrium	heart
37	chr1:224074400-224079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:224074600-224075400	Enhancers	NH-A	brain
39	chr1:224074600-224075800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:224074600-224076000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:224074800-224075600	Enhancers	Left Ventricle	heart
42	chr1:224074800-224075800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:224075000-224075400	Weak transcription	NHEK	skin
44	chr1:224075000-224075600	Enhancers	Fetal Heart	heart
45	chr1:224075000-224075600	Enhancers	HSMM	muscle
46	chr1:224075000-224075600	Enhancers	NHDF-Ad	bronchial
47	chr1:224075000-224075600	Enhancers	Osteobl	bone
48	chr1:224075000-224075800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:224075000-224075800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr1:224075200-224075400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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