Variant report

Variant	esv3324974
Chromosome Location	chr12:48365476-48365742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48298891..48301417-chr12:48363482..48365531,2	K562	blood:
2	chr12:48360838..48363620-chr12:48364578..48367184,3	K562	blood:
3	chr12:48356653..48359359-chr12:48363444..48365828,3	MCF-7	breast:
4	chr12:48363983..48366127-chr12:48370745..48372999,2	MCF-7	breast:
5	chr12:48365132..48368005-chr12:48368353..48370036,2	K562	blood:
6	chr12:48362584..48365917-chr12:48368904..48372045,3	K562	blood:

Variant related genes	Relation type
ENSG00000134291	chromatin interactions
ENSG00000139219	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201488309	chr12:48365488-48365489	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529517510	chr12:48365523-48365524	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550867463	chr12:48365534-48365535	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569069322	chr12:48365545-48365546	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs34584407	chr12:48365571-48365572	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs57538857	chr12:48365575-48365576	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs533562312	chr12:48365577-48365578	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs55667634	chr12:48365596-48365597	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs199868079	chr12:48365602-48365603	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs566935138	chr12:48365605-48365606	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs56386487	chr12:48365607-48365608	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs549362728	chr12:48365616-48365617	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs537984779	chr12:48365621-48365622	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs142586218	chr12:48365626-48365627	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs10629275	chr12:48365627-48365628	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs147854935	chr12:48365636-48365637	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs398116415	chr12:48365637-48365638	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs11447760	chr12:48365638-48365639	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs535699629	chr12:48365647-48365648	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs71077180	chr12:48365658-48365659	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs4760675	chr12:48365665-48365666	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs557300002	chr12:48365681-48365682	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs112976089	chr12:48365694-48365695	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs28703069	chr12:48365696-48365697	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs554351002	chr12:48365730-48365731	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs28594309	chr12:48365733-48365734	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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
T-cell prolymphocytic leukemia	17713554	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48358200-48366200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:48358200-48366200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:48358400-48366400	Weak transcription	Fetal Brain Male	brain
4	chr12:48358400-48367800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:48358400-48367800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:48358400-48369800	Weak transcription	Brain Angular Gyrus	brain
7	chr12:48358400-48373000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:48358600-48366600	Weak transcription	Fetal Lung	lung
9	chr12:48358600-48369400	Weak transcription	Fetal Kidney	kidney
10	chr12:48358600-48381400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:48358800-48366000	Weak transcription	HepG2	liver
12	chr12:48358800-48366200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:48359200-48384000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:48359600-48366600	Strong transcription	Thymus	Thymus
15	chr12:48360000-48366000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:48360000-48368200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:48360200-48369600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:48361800-48366200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:48362200-48366000	Weak transcription	Colonic Mucosa	Colon
20	chr12:48362200-48368000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:48362400-48370600	Weak transcription	HMEC	breast
22	chr12:48362400-48370800	Weak transcription	NHEK	skin
23	chr12:48362600-48365800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:48362600-48367200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:48362800-48366000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:48362800-48366200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:48362800-48367600	Weak transcription	Small Intestine	intestine
28	chr12:48362800-48368000	Weak transcription	Fetal Brain Female	brain
29	chr12:48363000-48365800	Weak transcription	Lung	lung
30	chr12:48363000-48367000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:48363000-48367800	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:48363000-48368800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:48363000-48370800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:48363000-48370800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:48363200-48366200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:48363200-48370800	Weak transcription	Fetal Stomach	stomach
37	chr12:48363400-48365600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr12:48363400-48366000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:48363400-48366000	Weak transcription	Gastric	stomach
40	chr12:48363400-48366200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:48363400-48366400	Weak transcription	Aorta	Aorta
42	chr12:48363400-48366600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:48363400-48366600	Weak transcription	Pancreas	Pancrea
44	chr12:48363400-48367800	Weak transcription	Dnd41	blood
45	chr12:48363400-48368200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:48363400-48368200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:48363400-48369000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:48363400-48370800	Weak transcription	Fetal Thymus	thymus
49	chr12:48363400-48374800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:48363400-48375000	Weak transcription	Rectal Mucosa Donor 29	rectum

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