Variant report

Variant	esv3383986
Chromosome Location	chr12:425338-425502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:424975..427047-chr12:431144..433406,2	MCF-7	breast:
2	chr12:423846..425522-chr12:432470..434859,2	K562	blood:

Variant related genes	Relation type
ENSG00000073614	chromatin interactions

Extended variants
information (count: 6 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67515639	chr12:425390-425391	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377514603	chr12:425451-425452	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530750533	chr12:425469-425470	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs61906996	chr12:425473-425474	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs7313676	chr12:425481-425482	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7134353	chr12:425502-425503	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	22291905	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:389400-455200	Strong transcription	Primary B cells from peripheral blood	blood
2	chr12:394000-474400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:400800-440800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:402000-427200	Weak transcription	K562	blood
5	chr12:409400-439000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:409800-451600	Strong transcription	Fetal Thymus	thymus
7	chr12:411400-433600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:411600-438600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr12:411600-448000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:411600-450800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:411600-453800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:412000-428000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:412000-431000	Strong transcription	Liver	Liver
14	chr12:412000-433400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:412000-435800	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:412000-438200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:412000-438400	Strong transcription	Fetal Muscle Leg	muscle
18	chr12:412000-438600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr12:412000-448000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr12:412000-448200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:412000-448400	Strong transcription	Adipose Nuclei	Adipose
22	chr12:412000-453200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:412200-432600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:412200-434000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:412200-438200	Strong transcription	Thymus	Thymus
26	chr12:412200-438600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr12:412200-438600	Strong transcription	A549	lung
28	chr12:412200-445400	Strong transcription	Primary B cells from cord blood	blood
29	chr12:412200-452000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:412200-452800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:412200-453000	Strong transcription	Fetal Intestine Large	intestine
32	chr12:412200-453200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:412200-453400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:412400-425800	Weak transcription	Right Atrium	heart
35	chr12:412400-435400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:412400-438200	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:412400-446600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr12:412400-454800	Strong transcription	Primary T cells from cord blood	blood
39	chr12:412600-432800	Strong transcription	Fetal Brain Female	brain
40	chr12:412600-439200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:412600-451200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:412800-448800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:412800-452600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:412800-453200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr12:413000-451200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:413000-452800	Strong transcription	Dnd41	blood
47	chr12:413400-434800	Strong transcription	GM12878-XiMat	blood
48	chr12:413600-433600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr12:413800-433000	Strong transcription	NH-A	brain
50	chr12:413800-433400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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