Variant report

Variant	esv3352375
Chromosome Location	chr12:21594269-21594698
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:21590817..21593579-chr12:21593991..21595948,2	MCF-7	breast:
2	chr12:21489978..21491916-chr12:21593209..21595561,2	K562	blood:
3	chr12:21589203..21592796-chr12:21593700..21598591,5	MCF-7	breast:
4	chr12:21594525..21596330-chr12:21596660..21599628,2	K562	blood:
5	chr12:21591250..21594769-chr12:21604296..21607496,3	K562	blood:

Variant related genes	Relation type
ENSG00000121350	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11046051	chr12:21594324-21594325	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6487224	chr12:21594329-21594330	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs200404314	chr12:21594343-21594344	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183860673	chr12:21594347-21594348	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs71444123	chr12:21594378-21594379	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs386761067	chr12:21594380-21594381	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200039868	chr12:21594382-21594383	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs61169452	chr12:21594384-21594385	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
9	rs552080578	chr12:21594486-21594487	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73071777	chr12:21594488-21594489	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557224530	chr12:21594507-21594508	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146887556	chr12:21594541-21594542	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374691733	chr12:21594575-21594576	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186684413	chr12:21594576-21594577	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs55743041	chr12:21594592-21594593	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527655309	chr12:21594619-21594620	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371790826	chr12:21594634-21594635	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139088108	chr12:21594675-21594676	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201166735	chr12:21594677-21594678	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201500190	chr12:21594678-21594679	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142503985	chr12:21594679-21594680	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541439931	chr12:21594684-21594685	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21591400-21594800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:21591400-21594800	Weak transcription	Esophagus	oesophagus
3	chr12:21591400-21594800	Weak transcription	Gastric	stomach
4	chr12:21591400-21594800	Weak transcription	Left Ventricle	heart
5	chr12:21591400-21594800	Weak transcription	Lung	lung
6	chr12:21591400-21594800	Weak transcription	Spleen	Spleen
7	chr12:21591400-21595400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:21591400-21602800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:21591600-21594400	Weak transcription	Placenta	Placenta
10	chr12:21591600-21594600	Weak transcription	Brain Anterior Caudate	brain
11	chr12:21591600-21594600	Weak transcription	Ovary	ovary
12	chr12:21591600-21594800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:21591600-21594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:21591600-21594800	Weak transcription	Aorta	Aorta
15	chr12:21591600-21594800	Weak transcription	Brain Germinal Matrix	brain
16	chr12:21591600-21594800	Weak transcription	Colonic Mucosa	Colon
17	chr12:21591600-21594800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:21591600-21594800	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:21591600-21594800	Weak transcription	Pancreas	Pancrea
20	chr12:21591600-21598600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:21591600-21599600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:21591600-21609000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:21591600-21609000	Weak transcription	Brain Angular Gyrus	brain
24	chr12:21591600-21609200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:21591800-21594600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:21591800-21594800	Weak transcription	Fetal Thymus	thymus
27	chr12:21591800-21594800	Weak transcription	Right Ventricle	heart
28	chr12:21591800-21595000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:21591800-21595000	Weak transcription	Fetal Brain Female	brain
30	chr12:21591800-21598600	Weak transcription	Fetal Brain Male	brain
31	chr12:21591800-21599000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:21591800-21600000	Weak transcription	HSMM	muscle
33	chr12:21591800-21601000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:21591800-21609000	Weak transcription	Fetal Heart	heart
35	chr12:21591800-21611000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:21591800-21614600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:21591800-21614800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:21591800-21621000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:21591800-21624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:21592000-21594800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:21592000-21594800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:21592000-21594800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:21592000-21594800	Weak transcription	Osteobl	bone
44	chr12:21592000-21597800	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:21592000-21614200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:21592000-21620600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:21592000-21631000	Weak transcription	Psoas Muscle	Psoas
48	chr12:21592200-21594400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:21592200-21594400	Weak transcription	HMEC	breast
50	chr12:21592200-21594600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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