Variant report

Variant	nsv899362
Chromosome Location	chr12:84231625-84343247
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:84270623..84273533-chr12:84303786..84305748,2	MCF-7	breast:
2	chr12:84298030..84299669-chr12:84301549..84304383,2	K562	blood:
3	chr12:84272692..84275018-chr12:84275623..84277392,2	MCF-7	breast:
4	chr12:84272240..84274157-chr12:84279540..84281050,2	K562	blood:
5	chr12:83080291..83081825-chr12:84257884..84260777,2	MCF-7	breast:
6	chr12:84270623..84273533-chr12:84303786..84305748,2	MCF-7	breast:
7	chr12:84257472..84261320-chr12:84262069..84264682,4	MCF-7	breast:
8	chr12:84272692..84275018-chr12:84275623..84277392,2	MCF-7	breast:
9	chr12:84276799..84278474-chr20:45988477..45990232,2	MCF-7	breast:
10	chr12:84298030..84299669-chr12:84301549..84304383,2	K562	blood:
11	chr12:84235620..84237833-chr12:84261114..84263120,2	MCF-7	breast:
12	chr12:84315911..84318774-chr12:84319552..84322356,2	K562	blood:
13	chr12:84315911..84318774-chr12:84319552..84322356,2	K562	blood:
14	chr12:84272240..84274157-chr12:84279540..84281050,2	K562	blood:
15	chr1:54192091..54193000-chr12:84272022..84272741,2	MCF-7	breast:
16	chr12:84257472..84261320-chr12:84262069..84264682,4	MCF-7	breast:
17	chr12:84235620..84237833-chr12:84261114..84263120,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179104	chromatin interactions

Extended variants
information (count: 1669 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1669 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183286570	chr12:84234046-84234047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568954306	chr12:84234079-84234080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570128924	chr12:84234140-84234141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139828909	chr12:84234141-84234142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141134173	chr12:84234149-84234150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552648260	chr12:84234184-84234185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187165379	chr12:84234199-84234200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191272529	chr12:84234200-84234201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371843439	chr12:84234203-84234204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559218144	chr12:84234240-84234241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374952418	chr12:84234257-84234258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183727982	chr12:84234273-84234274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574827405	chr12:84234313-84234314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535421382	chr12:84234362-84234363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187706509	chr12:84234443-84234444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73154757	chr12:84234482-84234483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548172513	chr12:84234524-84234525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545541039	chr12:84234569-84234570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139070207	chr12:84234570-84234571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573047821	chr12:84234614-84234615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540464225	chr12:84234697-84234698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561950287	chr12:84234698-84234699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149931334	chr12:84234703-84234704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193270584	chr12:84234707-84234708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566392291	chr12:84234731-84234732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533951858	chr12:84234736-84234737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530947549	chr12:84234754-84234755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35106036	chr12:84234767-84234768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552361195	chr12:84234775-84234776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570639077	chr12:84234805-84234806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147627034	chr12:84234806-84234807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546831112	chr12:84234838-84234839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568411955	chr12:84234864-84234865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535728280	chr12:84234931-84234932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557645882	chr12:84234941-84234942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575099195	chr12:84234971-84234972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542902680	chr12:84234976-84234977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59343074	chr12:84234977-84234978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539442670	chr12:84234997-84234998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398044597	chr12:84235000-84235001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372991538	chr12:84235001-84235002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374385049	chr12:84235010-84235011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140495682	chr12:84235038-84235039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75851560	chr12:84235048-84235049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540422357	chr12:84235109-84235110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185066637	chr12:84235176-84235177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573786722	chr12:84235211-84235212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190261424	chr12:84235217-84235218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75504319	chr12:84235239-84235240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4119126	chr12:84235277-84235278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84234000-84234200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:84234000-84234200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr12:84234200-84234400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:84234400-84235400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:84234800-84236000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:84235400-84236600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:84235600-84236400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:84235600-84236400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:84235600-84236400	Enhancers	NHDF-Ad	bronchial
10	chr12:84235600-84236600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:84235600-84236600	Enhancers	HMEC	breast
12	chr12:84235600-84236600	Enhancers	NHEK	skin
13	chr12:84235800-84236600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:84236000-84236400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:84236000-84236600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:84236000-84236600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:84236000-84236600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr12:84236400-84237200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:84236600-84237000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:84236600-84237000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:84237000-84238000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:84237000-84238400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:84237200-84238000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:84237400-84238000	Enhancers	Adipose Nuclei	Adipose
25	chr12:84244000-84244200	Enhancers	Psoas Muscle	Psoas
26	chr12:84244000-84244400	Enhancers	NHDF-Ad	bronchial
27	chr12:84244000-84244600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:84248000-84264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:84251600-84252200	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr12:84252000-84252200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:84257400-84258400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:84258000-84258400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:84259600-84260000	Enhancers	HMEC	breast
34	chr12:84264600-84265000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr12:84264800-84265000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:84272400-84272600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:84272400-84274400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:84272600-84273800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:84272800-84273000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:84272800-84275200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:84273000-84273600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:84273600-84273800	Enhancers	Osteobl	bone
43	chr12:84273600-84274000	Enhancers	HSMM	muscle
44	chr12:84273600-84274400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:84273600-84275200	Enhancers	HMEC	breast
46	chr12:84273600-84275400	Enhancers	NHEK	skin
47	chr12:84273600-84275600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:84273800-84274400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:84273800-84275400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:84274000-84274400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links