Variant report

Variant	esv3390559
Chromosome Location	chr12:62902734-62920842
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:62859503..62861171-chr12:62910614..62912246,2	MCF-7	breast:
2	chr12:62887479..62889929-chr12:62903301..62905417,2	MCF-7	breast:
3	chr12:62914162..62916402-chr12:63001500..63003390,2	K562	blood:
4	chr12:62918451..62921309-chr12:62921578..62923186,2	MCF-7	breast:
5	chr12:62897832..62899888-chr12:62900613..62903392,2	K562	blood:
6	chr12:62860005..62861659-chr12:62903072..62905027,2	MCF-7	breast:
7	chr12:62914778..62916591-chr12:62918347..62920592,2	K562	blood:
8	chr12:62915089..62916755-chr12:62920315..62922629,2	MCF-7	breast:
9	chr12:62916535..62917392-chr12:63192666..63193171,2	K562	blood:
10	chr12:62915089..62916755-chr12:62920315..62922629,2	MCF-7	breast:
11	chr12:62901029..62903305-chr12:62910983..62913530,2	MCF-7	breast:
12	chr12:62901029..62903305-chr12:62910983..62913530,2	MCF-7	breast:
13	chr12:62920513..62925358-chr12:62927927..62931461,4	K562	blood:
14	chr12:62916495..62918610-chr12:62994074..62996393,2	MCF-7	breast:
15	chr12:62919040..62922013-chr12:62927125..62929427,2	K562	blood:
16	chr12:62914778..62916591-chr12:62918347..62920592,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000061987	chromatin interactions

Extended variants
information (count: 660 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549551506	chr12:62902761-62902762	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs576353255	chr12:62902819-62902820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7963346	chr12:62902833-62902834	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs538976441	chr12:62902834-62902835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12161814	chr12:62902875-62902876	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554355044	chr12:62902896-62902897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572323357	chr12:62902906-62902907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77726633	chr12:62902913-62902914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191341034	chr12:62902914-62902915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555050426	chr12:62902931-62902932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184527079	chr12:62902964-62902965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529027673	chr12:62902975-62902976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189361458	chr12:62902976-62902977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543879479	chr12:62902977-62902978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569145068	chr12:62903017-62903018	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs563570011	chr12:62903047-62903048	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs577277714	chr12:62903135-62903136	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138768248	chr12:62903148-62903149	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565130904	chr12:62903166-62903167	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527493378	chr12:62903182-62903183	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547654302	chr12:62903204-62903205	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs75729185	chr12:62903237-62903238	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538068231	chr12:62903252-62903253	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529779291	chr12:62903268-62903269	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs61921913	chr12:62903295-62903296	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569564751	chr12:62903311-62903312	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538218242	chr12:62903324-62903325	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs57715507	chr12:62903418-62903419	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs144773061	chr12:62903514-62903515	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192666256	chr12:62903516-62903517	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534147773	chr12:62903561-62903562	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs7298782	chr12:62903639-62903640	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574068633	chr12:62903655-62903656	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34273352	chr12:62903656-62903657	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs202148512	chr12:62903665-62903666	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201459274	chr12:62903666-62903667	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs199654957	chr12:62903667-62903668	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185277994	chr12:62903692-62903693	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537166470	chr12:62903720-62903721	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557401276	chr12:62903765-62903766	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7302027	chr12:62903793-62903794	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190106493	chr12:62903872-62903873	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558587945	chr12:62903918-62903919	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs138448466	chr12:62903968-62903969	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs572417001	chr12:62903987-62903988	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541296308	chr12:62904001-62904002	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575482204	chr12:62904017-62904018	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529862638	chr12:62904057-62904058	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs538937950	chr12:62904114-62904115	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549631197	chr12:62904213-62904214	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	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
Metanephric adenoma	20802469	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
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62863200-62937400	Weak transcription	Pancreas	Pancrea
2	chr12:62863400-62911000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:62863600-62926400	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:62864000-62906200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:62866200-62906200	Weak transcription	Aorta	Aorta
6	chr12:62866600-62906200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:62866600-62912400	Weak transcription	NHLF	lung
8	chr12:62866600-62953200	Weak transcription	Psoas Muscle	Psoas
9	chr12:62869000-62904400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:62871000-62910800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:62871800-62926200	Weak transcription	Fetal Brain Male	brain
12	chr12:62874600-62917400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:62876000-62905800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:62876000-62937400	Weak transcription	Gastric	stomach
15	chr12:62876200-62913000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:62877800-62906200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:62879000-62912000	Weak transcription	Brain Angular Gyrus	brain
18	chr12:62886000-62911200	Weak transcription	Brain Substantia Nigra	brain
19	chr12:62888400-62904400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:62888800-62906400	Weak transcription	Right Ventricle	heart
21	chr12:62889200-62949600	Weak transcription	Small Intestine	intestine
22	chr12:62891000-62904400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:62891800-62904800	Weak transcription	HSMMtube	muscle
24	chr12:62892200-62904400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr12:62892800-62911200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:62893800-62905000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:62894200-62903600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:62894200-62904000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:62894400-62926200	Weak transcription	NH-A	brain
30	chr12:62895200-62903200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:62895200-62905200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:62895200-62906200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:62895400-62906200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:62895800-62903400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:62895800-62906200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:62896200-62904600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:62896400-62903000	Strong transcription	Primary T cells from cord blood	blood
38	chr12:62896600-62903600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:62896600-62904400	Strong transcription	Dnd41	blood
40	chr12:62897000-62904200	Weak transcription	HMEC	breast
41	chr12:62897000-62916400	Weak transcription	Fetal Heart	heart
42	chr12:62897200-62904400	Strong transcription	Fetal Muscle Leg	muscle
43	chr12:62897400-62903400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:62897600-62904600	Weak transcription	HSMM	muscle
45	chr12:62897600-62931000	Weak transcription	K562	blood
46	chr12:62897600-62944000	Weak transcription	Esophagus	oesophagus
47	chr12:62897800-62903200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:62897800-62903200	Weak transcription	NHEK	skin
49	chr12:62897800-62911200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:62898000-62923400	Weak transcription	NHDF-Ad	bronchial

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