Variant report

Variant	nsv946420
Chromosome Location	chr1:155648222-155649376
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155648653-155649333	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:155648393-155648731	K562	blood:	n/a	n/a
3	POLR2A	chr1:155649023-155649027	MCF-7	breast:	n/a	n/a
4	POLR2A	chr1:155649030-155649055	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:155648790-155648843	ProgFib	skin:	n/a	n/a
6	POLR2A	chr1:155648556-155648588	MCF-7	breast:	n/a	n/a
7	POLR2A	chr1:155648544-155649181	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:155648874-155648936	ProgFib	skin:	n/a	n/a
9	POLR2A	chr1:155648591-155649014	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155644925..155647693-chr1:155648033..155650535,4	K562	blood:
2	chr1:155646937..155653370-chr1:155653884..155660272,11	K562	blood:
3	chr1:155647841..155650282-chr1:155658064..155659902,2	MCF-7	breast:
4	chr1:155641405..155643309-chr1:155647135..155648981,2	K562	blood:

No data

Variant related genes	Relation type
YY1AP1	TF binding region
ENSG00000163374	chromatin interactions
ENSG00000132676	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567266220	chr1:155648258-155648259	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs190072979	chr1:155648267-155648268	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544480126	chr1:155648273-155648274	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs182769187	chr1:155648296-155648297	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116705598	chr1:155648298-155648299	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs186008342	chr1:155648364-155648365	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557138149	chr1:155648402-155648403	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs575808156	chr1:155648443-155648444	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs561488941	chr1:155648469-155648470	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs368390671	chr1:155648483-155648484	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs556909708	chr1:155648517-155648518	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs192080787	chr1:155648616-155648617	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs492669	chr1:155648712-155648713	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540714742	chr1:155648713-155648714	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs565418570	chr1:155648769-155648770	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs577908607	chr1:155648856-155648857	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs115633642	chr1:155648894-155648895	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs370921578	chr1:155648950-155648951	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs489970	chr1:155649000-155649001	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs530679098	chr1:155649024-155649025	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs547317077	chr1:155649029-155649030	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs549278573	chr1:155649072-155649073	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs560709346	chr1:155649118-155649119	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs375941986	chr1:155649163-155649164	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs375910950	chr1:155649173-155649174	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs369113296	chr1:155649184-155649185	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs546288068	chr1:155649201-155649202	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs570965677	chr1:155649208-155649209	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs143326861	chr1:155649220-155649221	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs200526712	chr1:155649223-155649224	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs376644601	chr1:155649245-155649246	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs550862847	chr1:155649246-155649247	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs150371613	chr1:155649269-155649270	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs569455514	chr1:155649286-155649287	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs138164527	chr1:155649287-155649288	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs112990268	chr1:155649299-155649300	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs555277100	chr1:155649319-155649320	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155627000-155657600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155627200-155651600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:155627200-155654000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:155627600-155650200	Strong transcription	GM12878-XiMat	blood
5	chr1:155627600-155650600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:155627600-155653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:155627800-155650600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:155628000-155650400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:155628000-155650400	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:155628000-155650400	Strong transcription	Stomach Smooth Muscle	stomach
11	chr1:155628000-155650600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:155628000-155650600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:155628000-155650600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:155628000-155650600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:155628000-155650800	Strong transcription	Primary T cells from cord blood	blood
16	chr1:155628000-155650800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:155628000-155650800	Strong transcription	Placenta	Placenta
18	chr1:155628000-155651600	Strong transcription	Adipose Nuclei	Adipose
19	chr1:155628000-155652000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:155628000-155652000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:155628000-155653800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:155628000-155654600	Strong transcription	Fetal Thymus	thymus
23	chr1:155628200-155649600	Strong transcription	Brain Cingulate Gyrus	brain
24	chr1:155628200-155649800	Strong transcription	Osteobl	bone
25	chr1:155628200-155650200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:155628200-155650200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:155628200-155650200	Strong transcription	Fetal Intestine Large	intestine
28	chr1:155628200-155650400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:155628200-155650400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:155628200-155650400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:155628200-155650600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:155628200-155650600	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr1:155628200-155650800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:155628200-155650800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:155628200-155650800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:155628200-155651000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:155628200-155651000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:155628200-155651200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:155628200-155651200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:155628200-155653200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:155628400-155649800	Strong transcription	Brain Anterior Caudate	brain
42	chr1:155628400-155650000	Strong transcription	Left Ventricle	heart
43	chr1:155628400-155650400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:155628400-155650600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr1:155628400-155650600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:155628400-155650800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:155628400-155653200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:155628600-155650000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:155628600-155650400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:155628600-155650800	Strong transcription	Rectal Mucosa Donor 31	rectum

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