Variant report

Variant	esv3398276
Chromosome Location	chr12:84238465-84404040
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:0)
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	chr12:84376018..84379310-chr12:84380855..84384204,3	MCF-7	breast:
2	chr12:83080291..83081825-chr12:84257884..84260777,2	MCF-7	breast:
3	chr12:84368464..84370916-chr12:84373444..84375529,2	K562	blood:
4	chr12:84257472..84261320-chr12:84262069..84264682,4	MCF-7	breast:
5	chr12:84270623..84273533-chr12:84303786..84305748,2	MCF-7	breast:
6	chr12:84377626..84380547-chr12:84384455..84387319,2	MCF-7	breast:
7	chr12:84298030..84299669-chr12:84301549..84304383,2	K562	blood:
8	chr12:84272240..84274157-chr12:84279540..84281050,2	K562	blood:
9	chr12:84376018..84379310-chr12:84380855..84384204,3	MCF-7	breast:
10	chr12:84272240..84274157-chr12:84279540..84281050,2	K562	blood:
11	chr12:84235620..84237833-chr12:84261114..84263120,2	MCF-7	breast:
12	chr12:84368464..84370916-chr12:84373444..84375529,2	K562	blood:
13	chr12:84315911..84318774-chr12:84319552..84322356,2	K562	blood:
14	chr12:84257472..84261320-chr12:84262069..84264682,4	MCF-7	breast:
15	chr12:84272692..84275018-chr12:84275623..84277392,2	MCF-7	breast:
16	chr1:54192091..54193000-chr12:84272022..84272741,2	MCF-7	breast:
17	chr12:84272692..84275018-chr12:84275623..84277392,2	MCF-7	breast:
18	chr12:84298030..84299669-chr12:84301549..84304383,2	K562	blood:
19	chr12:84372191..84375103-chr12:84384034..84387500,3	K562	blood:
20	chr12:84377626..84380547-chr12:84384455..84387319,2	MCF-7	breast:
21	chr12:84372191..84375103-chr12:84384034..84387500,3	K562	blood:
22	chr12:84270623..84273533-chr12:84303786..84305748,2	MCF-7	breast:
23	chr12:84276799..84278474-chr20:45988477..45990232,2	MCF-7	breast:
24	chr12:84315911..84318774-chr12:84319552..84322356,2	K562	blood:
25	chr12:84219948..84220960-chr12:84349104..84349647,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179104	chromatin interactions

Extended variants
information (count: 2254 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2254 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532152133	chr12:84244046-84244047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182544343	chr12:84244050-84244051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141969781	chr12:84244051-84244052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534205078	chr12:84244146-84244147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145718606	chr12:84244156-84244157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567644774	chr12:84244169-84244170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538377535	chr12:84244224-84244225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556675147	chr12:84244293-84244294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561386169	chr12:84244297-84244298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539202937	chr12:84244314-84244315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117389959	chr12:84244346-84244347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185801426	chr12:84244351-84244352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543301972	chr12:84244381-84244382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560761861	chr12:84244397-84244398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78561649	chr12:84244406-84244407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76922031	chr12:84244407-84244408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191004284	chr12:84244409-84244410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529434006	chr12:84244415-84244416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564608245	chr12:84244437-84244438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547895275	chr12:84244469-84244470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532187285	chr12:84244505-84244506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138658772	chr12:84244519-84244520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559599666	chr12:84244546-84244547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7308837	chr12:84244547-84244548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs78953476	chr12:84244596-84244597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183376266	chr12:84248007-84248008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573932578	chr12:84248041-84248042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533098339	chr12:84248057-84248058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55778413	chr12:84248080-84248081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187380913	chr12:84248083-84248084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561224820	chr12:84248084-84248085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2019862	chr12:84248153-84248154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559772971	chr12:84248177-84248178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567179347	chr12:84248182-84248183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537745397	chr12:84248189-84248190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556976861	chr12:84248221-84248222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546464769	chr12:84248291-84248292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533511834	chr12:84248292-84248293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375691179	chr12:84248322-84248323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575219054	chr12:84248356-84248357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190598561	chr12:84248382-84248383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139904369	chr12:84248422-84248423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573399606	chr12:84248437-84248438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540430947	chr12:84248503-84248504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562371618	chr12:84248541-84248542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529658073	chr12:84248556-84248557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544908921	chr12:84248599-84248600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149814263	chr12:84248600-84248601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532933651	chr12:84248604-84248605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368064911	chr12:84248638-84248639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84244000-84244200	Enhancers	Psoas Muscle	Psoas
2	chr12:84244000-84244400	Enhancers	NHDF-Ad	bronchial
3	chr12:84244000-84244600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:84248000-84264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:84251600-84252200	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr12:84252000-84252200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:84257400-84258400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:84258000-84258400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:84259600-84260000	Enhancers	HMEC	breast
10	chr12:84264600-84265000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr12:84264800-84265000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:84272400-84272600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:84272400-84274400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:84272600-84273800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:84272800-84273000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:84272800-84275200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:84273000-84273600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:84273600-84273800	Enhancers	Osteobl	bone
19	chr12:84273600-84274000	Enhancers	HSMM	muscle
20	chr12:84273600-84274400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:84273600-84275200	Enhancers	HMEC	breast
22	chr12:84273600-84275400	Enhancers	NHEK	skin
23	chr12:84273600-84275600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:84273800-84274400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:84273800-84275400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:84274000-84274400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:84274200-84274400	Enhancers	NHDF-Ad	bronchial
28	chr12:84274200-84274600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:84274200-84274800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:84274400-84274600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:84274400-84274800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:84274400-84274800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:84274400-84274800	Flanking Active TSS	NHDF-Ad	bronchial
34	chr12:84274600-84274800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:84274800-84275200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:84274800-84275400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:84275000-84275200	Enhancers	Osteobl	bone
38	chr12:84275400-84278600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:84278600-84279600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:84286600-84287600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:84287600-84290200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:84290200-84290600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:84290400-84290800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:84303000-84304000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr12:84312000-84312200	Bivalent Enhancer	Fetal Brain Male	brain
46	chr12:84314600-84315400	Enhancers	Fetal Brain Male	brain
47	chr12:84325200-84326400	Enhancers	Fetal Brain Male	brain
48	chr12:84326000-84326400	Enhancers	Fetal Brain Female	brain
49	chr12:84335200-84335600	Enhancers	A549	lung
50	chr12:84335400-84335600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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