Variant report

Variant	esv9348
Chromosome Location	chr12:50348316-50348453
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50348029..50350628-chr12:50451106..50452724,2	MCF-7	breast:
2	chr12:50340512..50342652-chr12:50346476..50349381,2	MCF-7	breast:
3	chr12:50348137..50350764-chr12:50360835..50363285,2	K562	blood:
4	chr12:50347426..50349461-chr12:50350672..50352646,2	K562	blood:
5	chr12:50343242..50347399-chr12:50348384..50352542,7	K562	blood:
6	chr12:50347500..50349334-chr12:50448823..50450713,2	MCF-7	breast:
7	chr12:50331819..50333372-chr12:50347324..50349473,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RACGAP1-2	chr12:50348422-50348440	ENSG00000257378.1

No data

Variant related genes	Relation type
ENSG00000167580	chromatin interactions
ENSG00000110881	chromatin interactions
ENSG00000086159	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12372344	chr12:50348359-50348360	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149162809	chr12:50348361-50348362	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs142377054	chr12:50348376-50348377	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs151241738	chr12:50348380-50348381	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs140461998	chr12:50348397-50348398	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs199999215	chr12:50348424-50348425	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs147039983	chr12:50348425-50348426	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs104894337	chr12:50348430-50348431	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs104894328	chr12:50348446-50348447	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs193922495	chr12:50348447-50348448	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	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
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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50339400-50353600	Weak transcription	Right Atrium	heart
2	chr12:50347000-50348800	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr12:50347200-50348400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr12:50347400-50353400	Weak transcription	Pancreas	Pancrea
5	chr12:50347600-50348800	Enhancers	Hela-S3	cervix
6	chr12:50347600-50349000	Weak transcription	Spleen	Spleen
7	chr12:50347600-50349400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:50347800-50348600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:50347800-50349800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:50348200-50348400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
11	chr12:50348400-50348600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr12:50348400-50348800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:50348400-50348800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:50348400-50348800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr12:50348400-50349000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:50348400-50349600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:50348400-50350800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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