Variant report

Variant	nsv945326
Chromosome Location	chr1:225977045-225978464
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:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225976942..225979751-chr1:225984143..225986122,2	K562	blood:
2	chr1:225975331..225978238-chr1:225997239..225999309,2	MCF-7	breast:
3	chr1:225964922..225971483-chr1:225977225..225981439,8	K562	blood:
4	chr1:225972838..225977175-chr1:225978955..225982654,5	K562	blood:
5	chr1:225975459..225978007-chr1:225998232..226000787,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SRP9	hsa-miR-196a-5p	chr1:225977630-225977652
2	SRP9	hsa-miR-421	chr1:225978059-225978080

Variant related genes	Relation type
ENSG00000143819	chromatin interactions
ENSG00000143742	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149323412	chr1:225977049-225977050	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542491478	chr1:225977054-225977055	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200262058	chr1:225977085-225977086	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373834174	chr1:225977086-225977087	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146544886	chr1:225977088-225977089	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564184875	chr1:225977115-225977116	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528145770	chr1:225977167-225977168	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546304542	chr1:225977211-225977212	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188550487	chr1:225977218-225977219	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552802646	chr1:225977224-225977225	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs141268331	chr1:225977234-225977235	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs572884237	chr1:225977248-225977249	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs74604368	chr1:225977273-225977274	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs550458988	chr1:225977385-225977386	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs11555109	chr1:225977388-225977389	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548849676	chr1:225977409-225977410	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs568854373	chr1:225977474-225977475	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs541271640	chr1:225977484-225977485	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs189915800	chr1:225977508-225977509	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs557698639	chr1:225977526-225977527	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs182555497	chr1:225977533-225977534	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs11555121	chr1:225977538-225977539	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534778115	chr1:225977563-225977564	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs553503989	chr1:225977678-225977679	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs561122883	chr1:225977686-225977687	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574881344	chr1:225977690-225977691	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs542282668	chr1:225977719-225977720	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs11555113	chr1:225977742-225977743	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs145846119	chr1:225977752-225977753	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs575875403	chr1:225977767-225977768	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs367776098	chr1:225977818-225977819	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs564488154	chr1:225977835-225977836	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs528693463	chr1:225977840-225977841	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs186531623	chr1:225977882-225977883	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs191367978	chr1:225977945-225977946	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs1050033	chr1:225977968-225977969	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184461856	chr1:225977970-225977971	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs569113425	chr1:225977996-225977997	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs14113	chr1:225978007-225978008	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs374816734	chr1:225978060-225978061	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
41	rs368167273	chr1:225978080-225978081	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
42	rs541788241	chr1:225978172-225978173	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs189019723	chr1:225978226-225978227	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs193149869	chr1:225978228-225978229	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534023170	chr1:225978230-225978231	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs143747637	chr1:225978292-225978293	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs202216474	chr1:225978296-225978297	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs74730648	chr1:225978322-225978323	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs199645709	chr1:225978388-225978389	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200795784	chr1:225978393-225978394	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Developmental delay	21147756	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225966800-225978600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:225967200-225978400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:225967800-225980200	Weak transcription	Stomach Mucosa	stomach
4	chr1:225968200-225980000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:225968600-225978400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:225969000-225977200	Strong transcription	HMEC	breast
7	chr1:225969800-225983000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:225970000-225978400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr1:225970200-225978600	Strong transcription	Fetal Thymus	thymus
10	chr1:225970200-225979800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr1:225970200-225983200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:225970400-225977200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:225970600-225977400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:225970600-225978400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:225970600-225978400	Strong transcription	Dnd41	blood
16	chr1:225970600-225980000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr1:225970600-225980600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:225970600-225981800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:225970800-225977200	Strong transcription	K562	blood
20	chr1:225970800-225977400	Strong transcription	Liver	Liver
21	chr1:225970800-225978400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:225970800-225982200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:225971000-225979200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:225971000-225979200	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr1:225971200-225977200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:225971200-225978600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:225971200-225978800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:225971200-225979600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:225971200-225979800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:225971200-225980000	Strong transcription	NH-A	brain
31	chr1:225971200-225980000	Strong transcription	Osteobl	bone
32	chr1:225971400-225977200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:225971400-225977400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:225971400-225978400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:225971400-225978600	Strong transcription	Placenta	Placenta
36	chr1:225971400-225980000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:225971600-225977200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr1:225971600-225977400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr1:225971600-225978200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:225971600-225978400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:225971600-225982800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:225971800-225977600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:225971800-225978400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:225971800-225978400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:225971800-225980200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:225972200-225978600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:225972400-225980000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr1:225972800-225977200	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr1:225972800-225979800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr1:225973000-225978600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links