Variant report

Variant	esv3329221
Chromosome Location	chr12:87785317-87833393
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:87805246..87807657-chr12:87814690..87817082,2	MCF-7	breast:
2	chr12:87829514..87833509-chr12:87836513..87839734,3	MCF-7	breast:
3	chr12:87805246..87807657-chr12:87814690..87817082,2	MCF-7	breast:
4	chr12:87828977..87831928-chr12:87832715..87835394,2	MCF-7	breast:
5	chr12:87823587..87825538-chr12:87827654..87830409,3	MCF-7	breast:
6	chr12:87819379..87822423-chr12:87825316..87827871,3	MCF-7	breast:
7	chr12:87821658..87824109-chr12:87834973..87836828,2	MCF-7	breast:
8	chr12:87823587..87825538-chr12:87827654..87830409,3	MCF-7	breast:
9	chr12:87819379..87822423-chr12:87825316..87827871,3	MCF-7	breast:
10	chr12:87828977..87831928-chr12:87832715..87835394,2	MCF-7	breast:

No data

Extended variants
information (count: 1596 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1596 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537511283	chr12:87793803-87793804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183586372	chr12:87793819-87793820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577463870	chr12:87793855-87793856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540031506	chr12:87793894-87793895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61941217	chr12:87793943-87793944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77310556	chr12:87794009-87794010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542679170	chr12:87794028-87794029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115456430	chr12:87794029-87794030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562167988	chr12:87794031-87794032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371452788	chr12:87794057-87794058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529280685	chr12:87794118-87794119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139761113	chr12:87794149-87794150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555292381	chr12:87794178-87794179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376816059	chr12:87794179-87794180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181822019	chr12:87794190-87794191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142069088	chr12:87794225-87794226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186152822	chr12:87794282-87794283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17325004	chr12:87794287-87794288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567863658	chr12:87794295-87794296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566055566	chr12:87794350-87794351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558127482	chr12:87794369-87794370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112577806	chr12:87794376-87794377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4409920	chr12:87794411-87794412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs548716093	chr12:87794414-87794415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568542983	chr12:87794449-87794450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537446454	chr12:87794470-87794471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114564699	chr12:87794488-87794489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78124728	chr12:87794544-87794545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533750775	chr12:87794553-87794554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146301543	chr12:87794561-87794562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189007582	chr12:87794562-87794563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574199464	chr12:87794583-87794584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536584259	chr12:87794598-87794599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556161939	chr12:87794600-87794601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149945885	chr12:87794626-87794627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562422453	chr12:87794664-87794665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576551556	chr12:87794666-87794667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139562257	chr12:87794688-87794689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565387775	chr12:87794691-87794692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572522834	chr12:87794703-87794704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10777039	chr12:87794714-87794715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs181504723	chr12:87794732-87794733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186572456	chr12:87794778-87794779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550499205	chr12:87794779-87794780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563632522	chr12:87794813-87794814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374895206	chr12:87794827-87794828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374879510	chr12:87794874-87794875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144466755	chr12:87794919-87794920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533851406	chr12:87794939-87794940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547161869	chr12:87794972-87794973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87793800-87798000	Weak transcription	Fetal Lung	lung
2	chr12:87799400-87800400	Enhancers	HSMM	muscle
3	chr12:87799400-87801200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:87799400-87801400	Enhancers	HMEC	breast
5	chr12:87799600-87800200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:87799600-87801200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:87799800-87800200	Enhancers	NHEK	skin
8	chr12:87800200-87800800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:87801200-87801600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:87801600-87801800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:87801800-87817600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:87802800-87803000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:87803200-87803400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:87807000-87807400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:87807000-87808800	Enhancers	Fetal Heart	heart
16	chr12:87807400-87807800	Enhancers	Fetal Stomach	stomach
17	chr12:87807400-87808200	Enhancers	NH-A	brain
18	chr12:87808000-87808200	Enhancers	Fetal Lung	lung
19	chr12:87808000-87808600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr12:87808600-87822600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:87817600-87820200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:87819400-87819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:87819800-87820200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:87820200-87821000	ZNF genes & repeats	A549	lung
25	chr12:87820200-87821200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:87820200-87821600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:87821000-87821200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:87821000-87822200	Weak transcription	A549	lung
29	chr12:87821200-87822000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:87821200-87822200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:87821400-87823200	Enhancers	NHEK	skin
32	chr12:87821600-87823400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:87821600-87823800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:87821600-87823800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:87822000-87822800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:87822000-87824200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:87822000-87824800	Enhancers	HMEC	breast
38	chr12:87822200-87822800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:87822200-87822800	ZNF genes & repeats	A549	lung
40	chr12:87822200-87824800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:87822600-87823000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr12:87822600-87823000	Enhancers	Hela-S3	cervix
43	chr12:87822600-87823200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr12:87822800-87833000	Weak transcription	A549	lung
45	chr12:87823800-87824200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:87824200-87824600	Enhancers	NHEK	skin
47	chr12:87824200-87824800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:87824800-87831400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:87831400-87832400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:87831600-87832000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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