Variant report

Variant	esv3332556
Chromosome Location	chr12:58499734-58525494
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58516917..58519917-chr3:73158604..73161610,3	K562	blood:
2	chr12:58492799..58495914-chr12:58496910..58499926,3	K562	blood:
3	chr12:58516925..58518425-chr17:41438461..41440788,2	MCF-7	breast:
4	chr12:58516937..58518437-chr17:41400928..41402668,2	MCF-7	breast:
5	chr12:58516917..58519927-chr17:41462306..41466156,7	K562	blood:
6	chr12:58386891..58387425-chr12:58499275..58499786,2	MCF-7	breast:
7	chr12:58518417..58519927-chr17:41463871..41467581,3	MCF-7	breast:
8	chr12:58516945..58519917-chr17:41466381..41467898,2	K562	blood:
9	chr12:58499355..58500140-chr12:58570317..58570835,2	MCF-7	breast:
10	chr11:62607619..62609220-chr12:58516927..58518437,3	MCF-7	breast:
11	chr12:58517945..58518445-chr14:87102303..87102807,2	Hela-S3	cervix:
12	chr12:58516917..58519927-chr17:41462306..41466299,7	K562	blood:
13	chr12:58518437..58519937-chr17:41398650..41400282,2	K562	blood:
14	chr12:58516937..58519947-chr17:41380326..41383375,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223247	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000188825	chromatin interactions

Extended variants
information (count: 345 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374777419	chr12:58499747-58499748	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs117007739	chr12:58499813-58499814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182598011	chr12:58499894-58499895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564426886	chr12:58499913-58499914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540994899	chr12:58499967-58499968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138899069	chr12:58500014-58500015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186474796	chr12:58500018-58500019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541816898	chr12:58500027-58500028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142813078	chr12:58500044-58500045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2733441	chr12:58500051-58500052	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs35186295	chr12:58500066-58500067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78441022	chr12:58500067-58500068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74442272	chr12:58500068-58500069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74485393	chr12:58500069-58500070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142492737	chr12:58500073-58500074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398076668	chr12:58500078-58500079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73095872	chr12:58500082-58500083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549949749	chr12:58500083-58500084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367815051	chr12:58500090-58500091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560308033	chr12:58500197-58500198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191764052	chr12:58500222-58500223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7956463	chr12:58500290-58500291	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs547741383	chr12:58500301-58500302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566373466	chr12:58500390-58500391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549392586	chr12:58500443-58500444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536207124	chr12:58500477-58500478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548611069	chr12:58500580-58500581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183590196	chr12:58500604-58500605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs991430	chr12:58500663-58500664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs117010473	chr12:58500681-58500682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558763120	chr12:58500686-58500687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150760864	chr12:58500795-58500796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369475235	chr12:58500800-58500801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570070613	chr12:58500892-58500893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189053885	chr12:58500897-58500898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574676252	chr12:58500899-58500900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541454670	chr12:58500946-58500947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562982201	chr12:58501016-58501017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192538699	chr12:58501035-58501036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78470079	chr12:58501056-58501057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182130665	chr12:58501057-58501058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555897906	chr12:58501058-58501059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2733440	chr12:58501184-58501185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547974338	chr12:58501186-58501187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs991518	chr12:58501193-58501194	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562793549	chr12:58510823-58510824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533108783	chr12:58510824-58510825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551333564	chr12:58510832-58510833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566314538	chr12:58510833-58510834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139759847	chr12:58510837-58510838	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
Bladder cancer	21909424	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	21138945	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58496800-58499800	Enhancers	Fetal Muscle Leg	muscle
2	chr12:58498400-58499800	Enhancers	Psoas Muscle	Psoas
3	chr12:58499600-58499800	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr12:58499600-58500800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr12:58499800-58500600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:58500600-58501200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr12:58510800-58511400	Enhancers	Dnd41	blood
8	chr12:58511400-58511800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:58513000-58514000	Enhancers	Ovary	ovary
10	chr12:58514000-58514200	Enhancers	Psoas Muscle	Psoas
11	chr12:58514000-58517000	Weak transcription	Ovary	ovary
12	chr12:58514200-58517000	Weak transcription	Psoas Muscle	Psoas
13	chr12:58514400-58514800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:58514400-58515000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:58517000-58517400	Active TSS	Ovary	ovary
16	chr12:58524400-58527200	Enhancers	Fetal Lung	lung
17	chr12:58525400-58526200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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