Variant report

Variant	nsv730
Chromosome Location	chr12:58698792-58759096
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58736391..58738065-chr12:58925171..58927008,2	MCF-7	breast:
2	chr12:58706895..58709674-chr12:58716044..58718187,2	MCF-7	breast:
3	chr12:58702936..58706179-chr12:58735514..58738404,3	MCF-7	breast:
4	chr12:58742610..58744562-chr12:58927011..58929132,2	MCF-7	breast:
5	chr12:58693916..58695827-chr12:58703110..58705079,2	MCF-7	breast:
6	chr12:58704331..58705154-chr12:58735410..58735918,2	MCF-7	breast:
7	chr12:58692255..58693958-chr12:58697177..58699209,2	MCF-7	breast:
8	chr12:58706895..58709674-chr12:58716044..58718187,2	MCF-7	breast:
9	chr12:58750387..58753125-chr12:58754424..58756827,2	MCF-7	breast:
10	chr12:58752090..58754916-chr12:58756475..58758271,3	MCF-7	breast:
11	chr12:58746425..58748704-chr3:13576303..13578892,2	MCF-7	breast:
12	chr12:58702456..58704954-chr12:58705932..58708062,2	K562	blood:
13	chr12:58739967..58740565-chr12:59543543..59544432,2	K562	blood:
14	chr12:58750387..58753125-chr12:58754424..58756827,2	MCF-7	breast:
15	chr12:58745108..58747905-chr12:58817447..58819128,2	MCF-7	breast:
16	chr12:58747391..58749257-chr12:58750892..58753710,2	K562	blood:
17	chr12:58702456..58704954-chr12:58705932..58708062,2	K562	blood:
18	chr12:58747318..58749017-chr12:58808479..58811470,2	MCF-7	breast:
19	chr12:58752090..58754916-chr12:58756475..58758271,3	MCF-7	breast:
20	chr12:58333957..58336055-chr12:58707548..58710144,2	MCF-7	breast:
21	chr12:58695273..58697797-chr12:58704078..58705976,2	MCF-7	breast:
22	chr12:58704331..58705154-chr12:58735410..58735918,2	MCF-7	breast:
23	chr12:58739526..58740942-chr12:58837106..58837716,4	MCF-7	breast:
24	chr12:58739581..58740441-chr12:59543579..59544208,2	MCF-7	breast:
25	chr12:58580773..58582573-chr12:58696863..58699802,2	MCF-7	breast:
26	chr12:58702936..58706179-chr12:58735514..58738404,3	MCF-7	breast:
27	chr12:58747391..58749257-chr12:58750892..58753710,2	K562	blood:
28	chr12:58704304..58704894-chr12:58926420..58927300,2	MCF-7	breast:
29	chr12:58704348..58706532-chr12:58924233..58926574,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166896	chromatin interactions

Extended variants
information (count: 2066 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2066 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1908328	chr12:58698823-58698824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117792391	chr12:58698826-58698827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141390947	chr12:58698839-58698840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556865522	chr12:58698844-58698845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578256975	chr12:58698873-58698874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191286394	chr12:58698910-58698911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117236722	chr12:58698927-58698928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572352243	chr12:58699038-58699039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543069069	chr12:58699056-58699057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536627823	chr12:58699058-58699059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556744687	chr12:58699079-58699080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530639810	chr12:58699166-58699167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376625679	chr12:58699167-58699168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576453699	chr12:58699191-58699192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539079540	chr12:58699203-58699204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575806902	chr12:58699230-58699231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543244550	chr12:58699259-58699260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183971131	chr12:58699264-58699265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12827699	chr12:58699268-58699269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572571123	chr12:58699282-58699283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541374690	chr12:58699316-58699317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189736745	chr12:58699329-58699330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547071971	chr12:58699360-58699361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534646970	chr12:58699371-58699372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572815720	chr12:58699423-58699424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540130698	chr12:58699434-58699435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57986769	chr12:58699445-58699446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7965196	chr12:58699496-58699497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181751777	chr12:58699497-58699498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7978543	chr12:58699526-58699527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569788356	chr12:58699561-58699562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538420035	chr12:58699571-58699572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552964192	chr12:58699580-58699581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141848203	chr12:58699683-58699684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539274477	chr12:58699687-58699688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185070381	chr12:58699731-58699732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376374520	chr12:58699732-58699733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190310683	chr12:58699767-58699768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146251537	chr12:58699826-58699827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537485174	chr12:58699898-58699899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61049456	chr12:58699912-58699913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397957645	chr12:58699913-58699914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181948382	chr12:58699919-58699920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77074763	chr12:58699920-58699921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139139530	chr12:58699931-58699932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543205847	chr12:58699968-58699969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189840161	chr12:58700002-58700003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181046853	chr12:58700047-58700048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185638509	chr12:58700049-58700050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574240611	chr12:58700156-58700157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58696800-58701000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:58700000-58700800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:58700000-58701000	Enhancers	HUVEC	blood vessel
4	chr12:58700800-58703000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:58701000-58702200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:58701000-58703200	Weak transcription	HUVEC	blood vessel
7	chr12:58702200-58703200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:58703000-58704000	Enhancers	NHLF	lung
9	chr12:58703000-58705600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:58703000-58705800	Enhancers	HMEC	breast
11	chr12:58703200-58703800	ZNF genes & repeats	A549	lung
12	chr12:58703200-58704400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:58703200-58704600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:58703200-58704800	Enhancers	Hela-S3	cervix
15	chr12:58703200-58704800	Enhancers	HUVEC	blood vessel
16	chr12:58703200-58705400	Enhancers	HSMM	muscle
17	chr12:58703200-58705600	Enhancers	NHEK	skin
18	chr12:58703400-58704000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:58703400-58705800	Enhancers	NHDF-Ad	bronchial
20	chr12:58703600-58703800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:58703600-58703800	Enhancers	Psoas Muscle	Psoas
22	chr12:58703600-58704000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:58703600-58704800	Enhancers	NH-A	brain
24	chr12:58703600-58705000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:58703600-58705400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:58703600-58705400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:58703600-58705800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:58703600-58706000	Enhancers	Osteobl	bone
29	chr12:58703800-58704000	Flanking Active TSS	A549	lung
30	chr12:58703800-58704600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:58703800-58704600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:58703800-58705000	Weak transcription	Psoas Muscle	Psoas
33	chr12:58704000-58704600	Enhancers	A549	lung
34	chr12:58704000-58705000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:58704000-58705000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:58704000-58705000	Weak transcription	NHLF	lung
37	chr12:58704200-58705400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:58704200-58705400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:58704400-58705400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:58704400-58706200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:58704600-58705000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:58704600-58705000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:58704600-58705000	Enhancers	Brain Anterior Caudate	brain
44	chr12:58704600-58705200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:58704600-58705400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:58704600-58705400	Flanking Active TSS	A549	lung
47	chr12:58704800-58705200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:58704800-58705200	Enhancers	Adipose Nuclei	Adipose
49	chr12:58704800-58705200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr12:58704800-58705200	Enhancers	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links