Variant report

Variant	esv2760273
Chromosome Location	chr12:60489188-60561925
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:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:60532105..60534089-chr12:60535432..60537757,2	K562	blood:
2	chr12:60550084..60551908-chr12:60553624..60555521,2	MCF-7	breast:
3	chr12:60464696..60468583-chr12:60490353..60494821,4	MCF-7	breast:
4	chr12:60550084..60551908-chr12:60553624..60555521,2	MCF-7	breast:
5	chr12:60541351..60544237-chr12:60546904..60548454,2	K562	blood:
6	chr12:60558094..60560220-chr12:60756513..60758831,2	MCF-7	breast:
7	chr12:60554713..60557488-chr12:60585301..60588073,2	MCF-7	breast:
8	chr12:60504072..60505898-chr12:60508585..60511528,2	K562	blood:
9	chr12:60466885..60469119-chr12:60493136..60496064,3	MCF-7	breast:
10	chr12:60540346..60541953-chr12:60546209..60549149,2	MCF-7	breast:
11	chr12:60540346..60541953-chr12:60546209..60549149,2	MCF-7	breast:
12	chr12:60539977..60540691-chr18:58172003..58172727,2	MCF-7	breast:
13	chr12:60532105..60534089-chr12:60535432..60537757,2	K562	blood:
14	chr12:60499782..60500621-chr12:60887467..60888321,3	MCF-7	breast:
15	chr12:60545261..60548162-chr12:60566803..60568706,2	K562	blood:
16	chr12:60556765..60558299-chr12:60600713..60603668,2	K562	blood:
17	chr12:60535718..60536628-chr12:60888012..60888523,2	MCF-7	breast:
18	chr12:60478315..60480971-chr12:60488037..60490719,3	MCF-7	breast:
19	chr12:60483685..60486608-chr12:60491764..60494624,2	MCF-7	breast:
20	chr12:60485367..60488154-chr12:60489421..60491431,2	MCF-7	breast:
21	chr12:60504072..60505898-chr12:60508585..60511528,2	K562	blood:
22	chr12:60493772..60496447-chr12:60496844..60499476,2	K562	blood:
23	chr12:60493772..60496447-chr12:60496844..60499476,2	K562	blood:
24	chr12:60540647..60543131-chr12:62652569..62655278,2	K562	blood:
25	chr12:60541351..60544237-chr12:60546904..60548454,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A7-2	chr12:60488910-60489632	ENSG00000257294

No data

Variant related genes	Relation type
ENSG00000198673	chromatin interactions
ENSG00000257294	chromatin interactions
ENSG00000251822	chromatin interactions
ENSG00000135655	chromatin interactions

Extended variants
information (count: 1794 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1794 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190077858	chr12:60489204-60489205	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs181561449	chr12:60489216-60489217	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs149621737	chr12:60489233-60489234	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs374361266	chr12:60489234-60489235	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs186584192	chr12:60489250-60489251	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs144336788	chr12:60489251-60489252	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs540168513	chr12:60489255-60489256	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs12300861	chr12:60489259-60489260	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs148754910	chr12:60489264-60489265	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs571953003	chr12:60489271-60489272	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs190944786	chr12:60489277-60489278	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs552974786	chr12:60489296-60489297	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs116954423	chr12:60489323-60489324	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs535492730	chr12:60489360-60489361	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs555158276	chr12:60489432-60489433	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs182413657	chr12:60489443-60489444	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs534707237	chr12:60489444-60489445	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs17593697	chr12:60489522-60489523	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs537635703	chr12:60489599-60489600	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs185168395	chr12:60489620-60489621	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs191262311	chr12:60489667-60489668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142355144	chr12:60489721-60489722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560499669	chr12:60489729-60489730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150838889	chr12:60489737-60489738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375671716	chr12:60489739-60489740	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs77333034	chr12:60489798-60489799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7300756	chr12:60489815-60489816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs61922951	chr12:60489836-60489837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562818243	chr12:60489853-60489854	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542984775	chr12:60489868-60489869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371871785	chr12:60489902-60489903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183085447	chr12:60489912-60489913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572433611	chr12:60489976-60489977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11435369	chr12:60490014-60490015	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201221425	chr12:60490034-60490035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146084171	chr12:60490038-60490039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7132102	chr12:60490087-60490088	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375480630	chr12:60490147-60490148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73108242	chr12:60490207-60490208	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566501399	chr12:60490242-60490243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535101139	chr12:60490301-60490302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs199763578	chr12:60490321-60490322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11173318	chr12:60490340-60490341	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568826755	chr12:60490349-60490350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4468382	chr12:60490365-60490366	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs557484113	chr12:60490412-60490413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577528207	chr12:60490430-60490431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73364884	chr12:60490470-60490471	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553781339	chr12:60490490-60490491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375359696	chr12:60490525-60490526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Hodgkin''s lymphoma	18179710	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
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60478600-60492800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60492800-60493600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:60493600-60494400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:60494400-60495800	Enhancers	HMEC	breast
5	chr12:60494400-60496000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:60494400-60496000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr12:60494400-60496000	Enhancers	NHDF-Ad	bronchial
8	chr12:60494600-60495800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:60494600-60495800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:60494800-60495800	Enhancers	NHEK	skin
11	chr12:60495000-60495800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:60495000-60495800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:60495000-60495800	Enhancers	Stomach Mucosa	stomach
14	chr12:60495200-60495800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:60495200-60495800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:60495200-60496200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:60495400-60495800	Enhancers	NHLF	lung
18	chr12:60495600-60496000	Enhancers	NH-A	brain
19	chr12:60496000-60498000	Weak transcription	NHDF-Ad	bronchial
20	chr12:60498200-60498400	Enhancers	NHDF-Ad	bronchial
21	chr12:60506400-60506600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:60506800-60507000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:60507600-60507800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:60510600-60510800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:60513000-60513800	Enhancers	Hela-S3	cervix
26	chr12:60513200-60513600	Enhancers	NHLF	lung
27	chr12:60513600-60516400	Weak transcription	NHLF	lung
28	chr12:60513800-60516400	Weak transcription	Hela-S3	cervix
29	chr12:60516200-60518800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:60516400-60517800	Enhancers	NHLF	lung
31	chr12:60516400-60518200	Enhancers	Hela-S3	cervix
32	chr12:60516800-60517800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:60516800-60518200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:60516800-60518200	Enhancers	NHDF-Ad	bronchial
35	chr12:60517200-60517600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:60517200-60517800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:60517200-60517800	Enhancers	A549	lung
38	chr12:60517600-60517800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:60517800-60523600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:60518800-60520200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:60519000-60519800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr12:60519000-60520600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr12:60519400-60520400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr12:60519800-60520400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:60531000-60531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:60531200-60531800	Enhancers	A549	lung
47	chr12:60531200-60532000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:60532000-60536800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:60533200-60533400	Enhancers	Aorta	Aorta
50	chr12:60534400-60535000	Enhancers	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links