Variant report

Variant	esv3333141
Chromosome Location	chr12:33590918-33591243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33576104..33579751-chr12:33589540..33591397,3	MCF-7	breast:
2	chr12:32908013..32910248-chr12:33589503..33591482,2	K562	blood:
3	chr12:33590585..33592422-chr12:34176176..34177683,2	MCF-7	breast:
4	chr12:33582705..33584694-chr12:33588953..33591212,2	K562	blood:

Variant related genes	Relation type
ENSG00000139131	chromatin interactions
ENSG00000110975	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368192419	chr12:33590947-33590948	Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370656244	chr12:33591000-33591001	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs114224939	chr12:33591002-33591003	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543400626	chr12:33591017-33591018	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533840832	chr12:33591067-33591068	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs556816858	chr12:33591069-33591070	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73313953	chr12:33591082-33591083	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112381086	chr12:33591149-33591150	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs532708017	chr12:33591158-33591159	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs559914558	chr12:33591211-33591212	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528683578	chr12:33591233-33591234	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs542570393	chr12:33591238-33591239	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33589800-33595600	Active TSS	K562	blood
2	chr12:33590200-33591200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:33590600-33591000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:33590600-33591200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:33590600-33591200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
6	chr12:33590600-33592000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:33590600-33593200	Active TSS	Brain Anterior Caudate	brain
8	chr12:33590600-33593400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr12:33590800-33591000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
10	chr12:33590800-33591000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
11	chr12:33590800-33591000	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:33590800-33591000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
13	chr12:33590800-33591200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr12:33590800-33591400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr12:33590800-33591600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr12:33590800-33592000	Bivalent/Poised TSS	Right Atrium	heart
17	chr12:33591000-33591200	Bivalent Enhancer	Brain Angular Gyrus	brain
18	chr12:33591000-33591200	Bivalent Enhancer	Fetal Brain Male	brain
19	chr12:33591000-33591200	Bivalent Enhancer	Fetal Brain Female	brain
20	chr12:33591000-33591200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
21	chr12:33591000-33591200	Bivalent/Poised TSS	Fetal Stomach	stomach
22	chr12:33591000-33591400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:33591000-33591400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
24	chr12:33591000-33591400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:33591000-33591400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
26	chr12:33591000-33591400	Bivalent Enhancer	Right Ventricle	heart
27	chr12:33591000-33591600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:33591000-33591600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
29	chr12:33591000-33591600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr12:33591000-33591800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
31	chr12:33591000-33591800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:33591000-33591800	Enhancers	Pancreas	Pancrea
33	chr12:33591000-33592200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:33591000-33592600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
35	chr12:33591000-33592800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
36	chr12:33591000-33592800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
37	chr12:33591000-33593000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
38	chr12:33591000-33593000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
39	chr12:33591000-33593200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr12:33591000-33593200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr12:33591000-33593200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr12:33591000-33593200	Bivalent/Poised TSS	Fetal Kidney	kidney
43	chr12:33591000-33593400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr12:33591000-33593400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr12:33591200-33591400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:33591200-33591400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr12:33591200-33591400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
48	chr12:33591200-33591400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
49	chr12:33591200-33591400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr12:33591200-33591600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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