Variant report

Variant	esv275404
Chromosome Location	chr1:186190128-186204891
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:186196248..186199242-chr1:186200494..186202096,2	K562	blood:
2	chr1:186120755..186125088-chr1:186200720..186204325,6	MCF-7	breast:
3	chr1:186193990..186196724-chr1:186199808..186201349,2	K562	blood:
4	chr1:186195416..186198253-chr1:186344477..186346582,2	K562	blood:
5	chr1:186196248..186199242-chr1:186200494..186202096,2	K562	blood:
6	chr1:186121917..186122845-chr1:186201039..186202141,3	MCF-7	breast:
7	chr1:186197416..186201292-chr1:186202438..186207046,5	K562	blood:
8	chr1:186196478..186198082-chr1:186200897..186203093,2	MCF-7	breast:
9	chr1:186197416..186202525-chr1:186202904..186206868,5	K562	blood:
10	chr1:186193196..186195433-chr12:120730117..120732240,2	MCF-7	breast:
11	chr1:186196478..186198082-chr1:186200897..186203093,2	MCF-7	breast:
12	chr1:186193990..186196724-chr1:186199808..186201349,2	K562	blood:
13	chr1:186187914..186190760-chr1:186196544..186198970,2	MCF-7	breast:
14	chr1:185284673..185286716-chr1:186197993..186200205,2	MCF-7	breast:
15	chr1:186197416..186202525-chr1:186202904..186206868,5	K562	blood:
16	chr1:186048997..186051706-chr1:186197290..186199226,2	K562	blood:
17	chr1:186197416..186201292-chr1:186202438..186207046,5	K562	blood:
18	chr1:186187914..186190760-chr1:186196544..186198970,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143341	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000157181	chromatin interactions
ENSG00000116679	chromatin interactions
ENSG00000047410	chromatin interactions

Extended variants
information (count: 547 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377043958	chr1:186190159-186190160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6676055	chr1:186190163-186190164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1743665	chr1:186190167-186190168	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182625806	chr1:186190813-186190814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577879199	chr1:186190821-186190822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185429526	chr1:186190876-186190877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557934903	chr1:186190898-186190899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs649350	chr1:186190899-186190900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549247216	chr1:186190932-186190933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112736607	chr1:186190965-186190966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs615464	chr1:186190983-186190984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190780694	chr1:186191010-186191011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74134813	chr1:186191060-186191061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538889449	chr1:186191066-186191067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550892612	chr1:186191072-186191073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs615022	chr1:186191087-186191088	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184223578	chr1:186191090-186191091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535936730	chr1:186191134-186191135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114719826	chr1:186191223-186191224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34296929	chr1:186191235-186191236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529018653	chr1:186191249-186191250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367972159	chr1:186191250-186191251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1743662	chr1:186191252-186191253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs577918325	chr1:186191253-186191254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545339197	chr1:186191278-186191279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs637263	chr1:186191279-186191280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533265290	chr1:186191290-186191291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11803142	chr1:186191335-186191336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs613701	chr1:186191366-186191367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12567799	chr1:186191388-186191389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188618224	chr1:186191403-186191404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139984594	chr1:186191409-186191410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs636387	chr1:186191452-186191453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549066255	chr1:186191476-186191477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1743842	chr1:186191487-186191488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550634930	chr1:186191593-186191594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193158037	chr1:186191598-186191599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144968353	chr1:186191629-186191630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147866458	chr1:186191657-186191658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530120253	chr1:186191681-186191682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566238929	chr1:186191691-186191692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76246776	chr1:186191692-186191693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376497267	chr1:186191706-186191707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147055600	chr1:186191731-186191732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs635046	chr1:186191748-186191749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs61831098	chr1:186191772-186191773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs635019	chr1:186191773-186191774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575859879	chr1:186191804-186191805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542668938	chr1:186191897-186191898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554905614	chr1:186191973-186191974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186188800-186190200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:186190800-186191200	Enhancers	Placenta	Placenta
3	chr1:186191000-186191400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:186191000-186191600	Enhancers	Hela-S3	cervix
5	chr1:186191200-186191600	Enhancers	Lung	lung
6	chr1:186191600-186194400	Weak transcription	Hela-S3	cervix
7	chr1:186193200-186193800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:186194400-186194800	Enhancers	Hela-S3	cervix
9	chr1:186197000-186201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:186198200-186200000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:186200000-186200400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:186200400-186202400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:186200600-186201600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:186201000-186201800	Enhancers	NHDF-Ad	bronchial
15	chr1:186201200-186201600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:186201400-186202000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:186201400-186202200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:186201600-186204800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:186201600-186205600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:186201800-186204000	Weak transcription	NHDF-Ad	bronchial
21	chr1:186202000-186204200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:186202200-186204200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:186202400-186203600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:186203400-186204400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:186203600-186203800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:186203600-186204200	Enhancers	Placenta	Placenta
27	chr1:186203600-186208600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:186204000-186204400	Enhancers	Osteobl	bone
29	chr1:186204000-186204800	Enhancers	NHDF-Ad	bronchial
30	chr1:186204000-186207000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:186204000-186207600	Enhancers	HMEC	breast
32	chr1:186204000-186207600	Enhancers	NHEK	skin
33	chr1:186204200-186205200	Weak transcription	Placenta	Placenta
34	chr1:186204200-186206600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:186204200-186207000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:186204400-186204600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:186204400-186205600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:186204400-186205600	Weak transcription	Osteobl	bone
39	chr1:186204600-186205200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:186204800-186205200	Weak transcription	NHDF-Ad	bronchial
41	chr1:186204800-186206400	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links