Variant report

Variant	esv1802622
Chromosome Location	chr1:147021148-147033650
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:147012652..147015179-chr1:147029678..147032847,3	MCF-7	breast:
2	chr1:147031464..147034228-chr1:147042792..147044457,2	K562	blood:
3	chr1:147016778..147019851-chr1:147026227..147029377,3	MCF-7	breast:
4	chr1:147019962..147021881-chr1:147028732..147030499,2	K562	blood:
5	chr1:147018435..147020925-chr1:147022562..147024139,2	K562	blood:
6	chr1:147032900..147033441-chr2:220406181..220407112,2	MCF-7	breast:
7	chr1:147019962..147021881-chr1:147028732..147030499,2	K562	blood:
8	chr1:147016993..147019863-chr1:147022177..147023748,3	MCF-7	breast:
9	chr1:147022754..147025492-chr1:147026294..147028683,2	MCF-7	breast:
10	chr1:147009715..147011902-chr1:147032676..147034909,2	MCF-7	breast:
11	chr1:147022754..147025492-chr1:147026294..147028683,2	MCF-7	breast:
12	chr1:147011634..147014268-chr1:147023990..147027027,3	MCF-7	breast:
13	chr1:147030113..147033038-chr1:147036369..147040192,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116128	chromatin interactions

Extended variants
information (count: 363 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:363 , 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	rs716703	chr1:147021148-147021149	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs587725597	chr1:147021149-147021150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587774650	chr1:147021179-147021180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17160413	chr1:147021421-147021422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs587711989	chr1:147021437-147021438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs662997	chr1:147021452-147021453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs587670021	chr1:147021530-147021531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs587710872	chr1:147021543-147021544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587609546	chr1:147021639-147021640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587665338	chr1:147021648-147021649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587749062	chr1:147021681-147021682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs5777643	chr1:147021891-147021892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368451218	chr1:147021895-147021896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183030757	chr1:147021978-147021979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187529369	chr1:147022013-147022014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72698253	chr1:147022059-147022060	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs587615712	chr1:147022077-147022078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2220950	chr1:147022101-147022102	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs587770744	chr1:147022103-147022104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs587649747	chr1:147022150-147022151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs587707205	chr1:147022199-147022200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs587774315	chr1:147022215-147022216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371991426	chr1:147022236-147022237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587722849	chr1:147022287-147022288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9326555	chr1:147022306-147022307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs587652723	chr1:147022310-147022311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371373990	chr1:147022323-147022324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115275955	chr1:147022329-147022330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587612741	chr1:147022342-147022343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142746917	chr1:147022405-147022406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587724750	chr1:147022438-147022439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs587603626	chr1:147022559-147022560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs587653563	chr1:147022560-147022561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373722120	chr1:147022578-147022579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367828240	chr1:147022579-147022580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs587593647	chr1:147022588-147022589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147100052	chr1:147022631-147022632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs587752155	chr1:147022654-147022655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12081028	chr1:147022697-147022698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs587705129	chr1:147022723-147022724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587762553	chr1:147022762-147022763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587620015	chr1:147022776-147022777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587695366	chr1:147022793-147022794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17160417	chr1:147022795-147022796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs587647355	chr1:147022811-147022812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587690433	chr1:147022817-147022818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs587771350	chr1:147022845-147022846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184027068	chr1:147022847-147022848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs587706189	chr1:147022897-147022898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374076327	chr1:147022937-147022938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	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
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	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
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
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	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
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	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
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147015000-147021800	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:147015200-147032200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:147016200-147021600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:147016200-147023000	Weak transcription	Right Atrium	heart
5	chr1:147016400-147027000	Weak transcription	Fetal Stomach	stomach
6	chr1:147017200-147022600	Weak transcription	Stomach Mucosa	stomach
7	chr1:147017200-147023600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:147017200-147030200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:147017200-147051200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:147017400-147021400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:147017400-147021400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:147017400-147039600	Weak transcription	Fetal Intestine Large	intestine
13	chr1:147017600-147021200	Weak transcription	Fetal Kidney	kidney
14	chr1:147017600-147022000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:147017600-147022800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:147017600-147030200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:147017600-147031600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:147017600-147038600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:147017800-147021800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:147017800-147021800	Weak transcription	Thymus	Thymus
21	chr1:147018400-147021200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:147018600-147022400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:147018800-147029800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:147018800-147031000	Weak transcription	Primary T cells from cord blood	blood
25	chr1:147019000-147021200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:147019000-147024600	Weak transcription	Brain Germinal Matrix	brain
27	chr1:147019200-147028600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:147020000-147021600	Enhancers	Left Ventricle	heart
29	chr1:147020200-147021200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:147020200-147021600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr1:147020200-147023000	Weak transcription	Aorta	Aorta
32	chr1:147020200-147030400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:147020400-147021200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:147020400-147021400	Weak transcription	Fetal Heart	heart
35	chr1:147020400-147021400	Weak transcription	Fetal Lung	lung
36	chr1:147020400-147021400	Weak transcription	Ovary	ovary
37	chr1:147020400-147021800	Weak transcription	Pancreas	Pancrea
38	chr1:147020400-147023000	Weak transcription	Psoas Muscle	Psoas
39	chr1:147020400-147023000	Weak transcription	Right Ventricle	heart
40	chr1:147020400-147023400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:147020400-147028600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:147020800-147021600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr1:147020800-147022000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:147021000-147021600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr1:147021000-147022000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr1:147021200-147021400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:147021200-147021400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr1:147021200-147021400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr1:147021200-147021400	Enhancers	Fetal Kidney	kidney
50	chr1:147021200-147021600	Enhancers	HUES64 Cell Line	embryonic stem cell

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