Variant report

Variant	esv3415429
Chromosome Location	chr12:31847473-31847887
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	chr12:31845442..31848211-chr12:31880575..31882362,2	K562	blood:

Variant related genes	Relation type
ENSG00000151743	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561429235	chr12:31847494-31847495	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116325576	chr12:31847536-31847537	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369301299	chr12:31847543-31847544	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570423620	chr12:31847554-31847555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539315382	chr12:31847577-31847578	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2200232	chr12:31847634-31847635	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566888430	chr12:31847644-31847645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535469079	chr12:31847666-31847667	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555872527	chr12:31847673-31847674	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570469660	chr12:31847701-31847702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575803361	chr12:31847781-31847782	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531681931	chr12:31847787-31847788	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74796107	chr12:31847800-31847801	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558341387	chr12:31847816-31847817	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537753041	chr12:31847830-31847831	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200140563	chr12:31847871-31847872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	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
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31817400-31850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:31822600-31862000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
4	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:31827400-31855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:31835600-31860200	Weak transcription	Fetal Kidney	kidney
7	chr12:31835800-31854800	Weak transcription	K562	blood
8	chr12:31836000-31857600	Weak transcription	A549	lung
9	chr12:31836800-31850400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:31837000-31859400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:31837200-31850200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:31837200-31850200	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:31837200-31850200	Weak transcription	Brain Substantia Nigra	brain
14	chr12:31837200-31850400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:31837200-31850400	Weak transcription	Adipose Nuclei	Adipose
16	chr12:31837200-31850400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:31837200-31852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:31837200-31854400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:31837200-31860400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:31837200-31865000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:31837400-31854200	Weak transcription	HSMMtube	muscle
22	chr12:31837400-31854400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:31839600-31855000	Weak transcription	Spleen	Spleen
25	chr12:31839800-31871800	Weak transcription	Gastric	stomach
26	chr12:31840200-31858200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:31840200-31859600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:31840200-31861800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:31840400-31849200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:31840400-31851800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:31840600-31850400	Weak transcription	Dnd41	blood
32	chr12:31840600-31854400	Weak transcription	Placenta	Placenta
33	chr12:31840800-31850600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:31841200-31857800	Weak transcription	Brain Angular Gyrus	brain
35	chr12:31841200-31860400	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:31841400-31850400	Weak transcription	Brain Anterior Caudate	brain
37	chr12:31841400-31856000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:31841600-31850400	Weak transcription	Liver	Liver
39	chr12:31841600-31857200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr12:31841600-31860200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:31841600-31870000	Weak transcription	Pancreas	Pancrea
42	chr12:31841800-31855800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:31842000-31850600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:31842000-31850800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:31842000-31860200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:31842200-31848800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:31843600-31850400	Weak transcription	Fetal Brain Male	brain
48	chr12:31843800-31847600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:31844600-31871800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:31845600-31860400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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