Variant report

Variant	esv1809239
Chromosome Location	chr12:61088174-61168785
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:61087880..61090655-chr12:61091873..61094363,2	MCF-7	breast:
2	chr12:61095133..61097553-chr12:61097984..61100105,2	MCF-7	breast:
3	chr12:61095133..61097553-chr12:61097984..61100105,2	MCF-7	breast:
4	chr12:61083057..61084756-chr12:61085691..61088224,2	MCF-7	breast:
5	chr12:61087880..61090655-chr12:61091873..61094363,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A7-7	chr12:61089153-61089356	expReg_chr12_6482_+

No data

Extended variants
information (count: 271 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74094019	chr12:61089156-61089157	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74094020	chr12:61089174-61089175	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567348287	chr12:61089181-61089182	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs576501377	chr12:61089197-61089198	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs536388982	chr12:61089198-61089199	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs556314269	chr12:61089217-61089218	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs141750013	chr12:61089237-61089238	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs570589520	chr12:61097803-61097804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547122403	chr12:61097852-61097853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555269126	chr12:61097862-61097863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199846934	chr12:61097881-61097882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113528477	chr12:61097910-61097911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567015960	chr12:61097921-61097922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535840058	chr12:61097930-61097931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs273841	chr12:61097975-61097976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575826421	chr12:61097991-61097992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549740522	chr12:61098028-61098029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369858993	chr12:61098043-61098044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558183642	chr12:61098062-61098063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61925960	chr12:61098067-61098068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370353479	chr12:61098081-61098082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112366265	chr12:61098092-61098093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114673611	chr12:61098112-61098113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376417240	chr12:61098135-61098136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191548773	chr12:61098155-61098156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572644419	chr12:61098165-61098166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112298892	chr12:61098188-61098189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541412418	chr12:61098194-61098195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185265488	chr12:61098254-61098255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374565165	chr12:61098319-61098320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530436937	chr12:61098392-61098393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78556939	chr12:61098417-61098418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115749146	chr12:61098423-61098424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564224563	chr12:61098446-61098447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190360638	chr12:61098461-61098462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533145356	chr12:61098493-61098494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181659811	chr12:61098496-61098497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2134632	chr12:61098508-61098509	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573284686	chr12:61098537-61098538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144281194	chr12:61098549-61098550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148752708	chr12:61098588-61098589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374825522	chr12:61098590-61098591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74094026	chr12:61098599-61098600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74094028	chr12:61098600-61098601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529285721	chr12:61104252-61104253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536117985	chr12:61104262-61104263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35400702	chr12:61104293-61104294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549138749	chr12:61104318-61104319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187417261	chr12:61104347-61104348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538121432	chr12:61104382-61104383	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:61097800-61098600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:61104200-61106800	Enhancers	Colon Smooth Muscle	Colon
3	chr12:61133600-61134200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:61134200-61134800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:61139000-61139200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:61146200-61147000	Enhancers	Dnd41	blood
7	chr12:61153800-61155200	Enhancers	Dnd41	blood

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