Variant report

Variant	nsv945330
Chromosome Location	chr1:226259072-226259884
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226259780..226262512-chr1:226298395..226301346,2	K562	blood:
2	chr1:226132398..226133993-chr1:226259835..226261737,2	K562	blood:
3	chr1:226186633..226189098-chr1:226257320..226260557,3	K562	blood:
4	chr1:226258835..226263842-chr1:226306097..226310860,6	K562	blood:
5	chr1:226250289..226252180-chr1:226258604..226260585,2	MCF-7	breast:
6	chr1:226252549..226256033-chr1:226258651..226261482,3	MCF-7	breast:
7	chr1:226258653..226260174-chr20:31207564..31209087,2	K562	blood:
8	chr1:226259247..226261395-chr1:226295322..226298055,2	MCF-7	breast:
9	chr1:226257129..226259171-chr1:226296635..226298571,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143751	chromatin interactions
ENSG00000163041	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201081886	chr1:226259114-226259115	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565622769	chr1:226259144-226259145	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373746348	chr1:226259191-226259192	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs377545570	chr1:226259212-226259213	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs34523945	chr1:226259213-226259214	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs397983063	chr1:226259229-226259230	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536175799	chr1:226259247-226259248	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369284826	chr1:226259338-226259339	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs548430481	chr1:226259387-226259388	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs538000326	chr1:226259399-226259400	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557140788	chr1:226259436-226259437	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs569833888	chr1:226259739-226259740	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558090519	chr1:226259782-226259783	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs60311516	chr1:226259804-226259805	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs6700189	chr1:226259807-226259808	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs114807066	chr1:226259815-226259816	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539089071	chr1:226259830-226259831	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	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
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226253000-226270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:226253200-226260200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr1:226253200-226270400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:226253200-226270600	Weak transcription	Aorta	Aorta
5	chr1:226253400-226259200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:226253400-226263000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:226253400-226263200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr1:226253400-226263400	Strong transcription	Placenta	Placenta
9	chr1:226253600-226260200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:226253600-226261800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:226253600-226263400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:226253600-226270400	Weak transcription	Small Intestine	intestine
13	chr1:226253800-226260600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:226254000-226267400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:226254200-226260600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:226254200-226261200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:226254400-226263000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:226254600-226259600	Weak transcription	Fetal Brain Male	brain
19	chr1:226254600-226259800	Weak transcription	Colonic Mucosa	Colon
20	chr1:226254600-226259800	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr1:226254600-226260400	Strong transcription	Hela-S3	cervix
22	chr1:226254600-226260600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:226254600-226261200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:226254600-226261200	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:226254600-226261200	Strong transcription	NH-A	brain
26	chr1:226254600-226261400	Strong transcription	Fetal Intestine Large	intestine
27	chr1:226254600-226261800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr1:226254600-226261800	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr1:226254600-226261800	Strong transcription	HSMM	muscle
30	chr1:226254600-226262000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:226254600-226262600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:226254600-226262600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:226254600-226262800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:226254600-226262800	Strong transcription	Osteobl	bone
35	chr1:226254600-226263000	Strong transcription	HUVEC	blood vessel
36	chr1:226254600-226263200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:226254600-226263600	Strong transcription	Adipose Nuclei	Adipose
38	chr1:226254600-226263800	Strong transcription	Fetal Muscle Leg	muscle
39	chr1:226254600-226266000	Weak transcription	Psoas Muscle	Psoas
40	chr1:226254600-226270400	Weak transcription	Right Ventricle	heart
41	chr1:226254800-226262000	Strong transcription	Fetal Brain Female	brain
42	chr1:226254800-226262400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:226254800-226262600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:226254800-226263600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:226255000-226260800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:226255000-226261600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:226255000-226261800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:226255000-226262000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:226255000-226262600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:226255200-226262600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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