Variant report

Variant	esv3367643
Chromosome Location	chr12:50368496-50368802
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	chr12:50367709..50369586-chr12:50462445..50464458,2	MCF-7	breast:
2	chr12:50367696..50368951-chr12:50463985..50464557,3	MCF-7	breast:
3	chr12:50367707..50368705-chr12:50449431..50450774,7	MCF-7	breast:
4	chr12:50260625..50261504-chr12:50367677..50368552,3	MCF-7	breast:
5	chr12:50368103..50369610-chr12:50371234..50372946,2	K562	blood:
6	chr12:50368132..50368664-chr12:50463988..50464856,2	K562	blood:
7	chr12:50367636..50371210-chr12:50373031..50375237,3	K562	blood:
8	chr12:50368076..50369916-chr12:50370500..50372771,2	MCF-7	breast:
9	chr12:50367744..50368598-chr12:50463753..50464919,4	MCF-7	breast:
10	chr12:50367721..50368617-chr12:50449659..50451716,5	MCF-7	breast:
11	chr12:50258974..50260618-chr12:50366779..50369622,2	MCF-7	breast:
12	chr12:50361097..50363136-chr12:50368065..50369960,2	MCF-7	breast:
13	chr12:50367042..50370413-chr12:50441830..50446012,4	K562	blood:
14	chr12:50015023..50017139-chr12:50367561..50369518,2	K562	blood:
15	chr12:50366961..50368712-chr12:50409103..50412073,2	K562	blood:
16	chr12:50368102..50368945-chr12:50449516..50450250,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110881	chromatin interactions
ENSG00000161800	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146700433	chr12:50368504-50368505	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs148811050	chr12:50368542-50368543	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs77450760	chr12:50368551-50368552	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs556430357	chr12:50368567-50368568	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs146117706	chr12:50368570-50368571	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs534559791	chr12:50368571-50368572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs143449279	chr12:50368576-50368577	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs151323074	chr12:50368622-50368623	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs199591609	chr12:50368630-50368631	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs80087859	chr12:50368719-50368720	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs17124219	chr12:50368740-50368741	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142971657	chr12:50368742-50368743	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535416695	chr12:50368753-50368754	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs555580855	chr12:50368754-50368755	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50361400-50372800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:50362000-50371200	Weak transcription	Fetal Brain Female	brain
3	chr12:50362600-50385800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:50364000-50368600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:50364200-50371000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:50365800-50369200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:50366200-50369800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr12:50366400-50374600	Weak transcription	Fetal Kidney	kidney
9	chr12:50366600-50368800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:50366600-50377400	Weak transcription	NHEK	skin
11	chr12:50366800-50369200	Enhancers	Liver	Liver
12	chr12:50367000-50369600	Enhancers	Fetal Intestine Large	intestine
13	chr12:50367000-50369800	Enhancers	Fetal Intestine Small	intestine
14	chr12:50367000-50378000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:50367200-50369200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:50367400-50369000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:50367400-50369000	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr12:50367400-50401200	Weak transcription	Gastric	stomach
19	chr12:50367600-50369200	Enhancers	Duodenum Mucosa	Duodenum
20	chr12:50367600-50374800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:50367800-50368600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:50367800-50368600	Enhancers	Stomach Mucosa	stomach
23	chr12:50367800-50368800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr12:50367800-50369200	Enhancers	Rectal Smooth Muscle	rectum
25	chr12:50367800-50369200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr12:50367800-50370000	Enhancers	Fetal Heart	heart
27	chr12:50367800-50370800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:50368000-50368600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr12:50368000-50369400	Enhancers	Fetal Muscle Leg	muscle
30	chr12:50368000-50369400	Enhancers	Placenta	Placenta
31	chr12:50368000-50369600	Enhancers	Ovary	ovary
32	chr12:50368000-50372000	Enhancers	Brain Germinal Matrix	brain
33	chr12:50368200-50368600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:50368200-50368600	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr12:50368200-50368600	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr12:50368200-50368600	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr12:50368200-50368600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr12:50368200-50368600	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr12:50368200-50368600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr12:50368200-50368800	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr12:50368200-50368800	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr12:50368200-50368800	Enhancers	Lung	lung
43	chr12:50368200-50369000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:50368200-50369200	Enhancers	Adipose Nuclei	Adipose
45	chr12:50368200-50369200	Enhancers	Fetal Lung	lung
46	chr12:50368200-50369200	Enhancers	Right Ventricle	heart
47	chr12:50368200-50369400	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr12:50368200-50369600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr12:50368200-50369800	Enhancers	Fetal Brain Male	brain
50	chr12:50368200-50370000	Enhancers	Duodenum Smooth Muscle	Duodenum

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