Variant report

Variant	nsv947402
Chromosome Location	chr1:247068359-247077294
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	chr1:247069382..247071569-chr1:247094825..247096414,2	MCF-7	breast:
2	chr1:247066090..247069070-chr1:247069556..247072507,2	K562	blood:
3	chr1:247074467..247081092-chr1:247083777..247087568,7	K562	blood:
4	chr1:247069287..247071721-chr1:247094011..247096127,2	MCF-7	breast:
5	chr1:247071846..247074365-chr1:247086927..247089836,2	MCF-7	breast:
6	chr1:247067465..247069148-chr1:247371022..247373324,2	MCF-7	breast:
7	chr1:247066090..247069070-chr1:247069556..247072507,2	K562	blood:
8	chr1:247064912..247069833-chr1:247070224..247074924,6	K562	blood:
9	chr1:247063867..247065621-chr1:247067210..247070638,3	K562	blood:
10	chr1:247070543..247071317-chr1:247241686..247242650,5	MCF-7	breast:
11	chr1:247073197..247074755-chr1:247089566..247092360,2	K562	blood:
12	chr1:247065795..247068424-chr1:247094512..247096873,2	K562	blood:
13	chr1:247058694..247061566-chr1:247068507..247070182,2	K562	blood:
14	chr1:247074051..247075993-chr1:247252125..247254059,2	K562	blood:
15	chr1:247069645..247071245-chr17:8075406..8078289,2	MCF-7	breast:
16	chr1:247075900..247078394-chr1:247093530..247095437,3	MCF-7	breast:
17	chr1:247063867..247065837-chr1:247067222..247069989,3	K562	blood:
18	chr1:247070542..247073488-chr1:247087102..247088901,2	K562	blood:
19	chr1:247067231..247071071-chr1:247078833..247080355,3	K562	blood:
20	chr1:247071871..247078090-chr1:247092538..247097120,9	K562	blood:
21	chr1:247071509..247075202-chr1:247075216..247082853,9	K562	blood:
22	chr1:247064912..247069833-chr1:247070224..247074924,6	K562	blood:
23	chr1:247068134..247071071-chr1:247078852..247080355,2	K562	blood:
24	chr1:247069586..247071786-chr1:247495195..247496702,2	K562	blood:
25	chr1:247070489..247071341-chr1:247240399..247241137,2	MCF-7	breast:
26	chr1:247071509..247075202-chr1:247075216..247082853,9	K562	blood:
27	chr1:247071868..247073371-chr1:247093645..247095242,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200463	chromatin interactions
ENSG00000135747	chromatin interactions
ENSG00000153207	chromatin interactions
ENSG00000227671	chromatin interactions

Extended variants
information (count: 352 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532894904	chr1:247068401-247068402	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs549500393	chr1:247068442-247068443	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544453844	chr1:247068496-247068497	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574019766	chr1:247068510-247068511	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1612610	chr1:247068526-247068527	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548409075	chr1:247068528-247068529	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574996620	chr1:247068555-247068556	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184401387	chr1:247068572-247068573	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542128984	chr1:247068594-247068595	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1691242	chr1:247068667-247068668	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570768132	chr1:247068700-247068701	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539863948	chr1:247068704-247068705	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528570879	chr1:247068705-247068706	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372396900	chr1:247068723-247068724	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535735735	chr1:247068734-247068735	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555618531	chr1:247068736-247068737	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs572243785	chr1:247068742-247068743	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527678940	chr1:247068748-247068749	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541133029	chr1:247068761-247068762	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs7551797	chr1:247068785-247068786	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs375728771	chr1:247068808-247068809	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138743895	chr1:247068830-247068831	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564225696	chr1:247068885-247068886	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368632848	chr1:247068892-247068893	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs145510203	chr1:247068909-247068910	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577659031	chr1:247068937-247068938	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368802357	chr1:247068947-247068948	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143001336	chr1:247068987-247068988	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561878959	chr1:247069081-247069082	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563118985	chr1:247069132-247069133	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532047442	chr1:247069215-247069216	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7529090	chr1:247069232-247069233	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs373464644	chr1:247069285-247069286	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189364695	chr1:247069300-247069301	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527837906	chr1:247069305-247069306	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549683977	chr1:247069338-247069339	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547577611	chr1:247069382-247069383	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570972942	chr1:247069396-247069397	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369872645	chr1:247069465-247069466	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568262591	chr1:247069476-247069477	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539528488	chr1:247069510-247069511	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1691243	chr1:247069514-247069515	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs7531694	chr1:247069556-247069557	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535773551	chr1:247069583-247069584	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555655328	chr1:247069601-247069602	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs550082799	chr1:247069670-247069671	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs1779968	chr1:247069697-247069698	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534860397	chr1:247069709-247069710	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs112484454	chr1:247069714-247069715	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs557643676	chr1:247069735-247069736	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:247005200-247079800	Weak transcription	Stomach Mucosa	stomach
5	chr1:247006600-247071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:247020400-247072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:247031600-247071400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:247033800-247070800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:247039000-247070400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:247043800-247082000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:247044800-247070200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:247045400-247082600	Strong transcription	Dnd41	blood
13	chr1:247045600-247070800	Strong transcription	Primary hematopoietic stem cells	blood
14	chr1:247045600-247071000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:247045600-247071000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:247045800-247070600	Strong transcription	Liver	Liver
17	chr1:247045800-247070800	Strong transcription	Osteobl	bone
18	chr1:247045800-247071000	Strong transcription	Adipose Nuclei	Adipose
19	chr1:247045800-247071000	Strong transcription	K562	blood
20	chr1:247045800-247071200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:247045800-247071600	Strong transcription	HSMM	muscle
22	chr1:247045800-247072000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:247045800-247080200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:247045800-247082400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:247045800-247083400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:247046000-247070800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:247046000-247070800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:247046000-247071000	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:247046000-247071200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:247046000-247081400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:247046000-247082000	Strong transcription	Fetal Thymus	thymus
32	chr1:247046000-247082800	Strong transcription	Hela-S3	cervix
33	chr1:247046200-247071600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:247046200-247081200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:247046200-247081400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:247046200-247081400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr1:247047800-247070200	Strong transcription	HepG2	liver
38	chr1:247048200-247070400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:247049600-247070600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr1:247055000-247071000	Strong transcription	Primary T cells from cord blood	blood
41	chr1:247055400-247089000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:247055600-247070400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:247056000-247070400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:247056000-247071000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:247056000-247084800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:247056200-247071000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:247056200-247071800	Strong transcription	HMEC	breast
48	chr1:247056400-247070600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr1:247056400-247071800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:247056600-247070200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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