Variant report

Variant	esv3345315
Chromosome Location	chr3:160232514-160232867
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	chr3:160167035..160169821-chr3:160232708..160234646,2	K562	blood:
2	chr3:160230934..160232886-chr3:160280729..160283145,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM59-2	chr3:160232695-160233024	NONHSAT092997

Variant related genes	Relation type
ENSG00000213186	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 57 )

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	rs577010205	chr3:160232535-160232536	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570689840	chr3:160232597-160232598	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527902779	chr3:160232620-160232621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186204746	chr3:160232622-160232623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561635582	chr3:160232623-160232624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557431847	chr3:160232637-160232638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575621209	chr3:160232648-160232649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375931321	chr3:160232683-160232684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189439850	chr3:160232694-160232695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377726488	chr3:160232794-160232795	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs370534745	chr3:160232807-160232808	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs199874084	chr3:160232824-160232825	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs568799951	chr3:160232828-160232829	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs372915589	chr3:160232844-160232845	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160204000-160238200	Weak transcription	Small Intestine	intestine
2	chr3:160215600-160254200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr3:160215800-160254000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:160215800-160254200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:160215800-160254200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:160216000-160254200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr3:160216200-160249200	Strong transcription	Liver	Liver
8	chr3:160216200-160254200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:160216400-160254400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:160216800-160253800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:160217200-160254000	Strong transcription	Dnd41	blood
12	chr3:160217400-160259600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:160217800-160235000	Weak transcription	Fetal Brain Male	brain
14	chr3:160218800-160244800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:160219600-160233400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:160219800-160242200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:160219800-160263600	Weak transcription	Right Ventricle	heart
18	chr3:160220600-160246200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:160220600-160261200	Weak transcription	Pancreas	Pancrea
20	chr3:160220800-160232600	Weak transcription	Aorta	Aorta
21	chr3:160221600-160249000	Strong transcription	HUVEC	blood vessel
22	chr3:160222200-160244600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:160223400-160243000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:160224400-160233200	Weak transcription	Gastric	stomach
25	chr3:160224400-160233200	Weak transcription	Lung	lung
26	chr3:160225600-160259800	Weak transcription	Stomach Mucosa	stomach
27	chr3:160225800-160236800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:160226000-160233400	Strong transcription	Hela-S3	cervix
29	chr3:160226000-160235000	Weak transcription	Fetal Heart	heart
30	chr3:160226000-160244000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:160227000-160232800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:160227000-160233200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:160227000-160234800	Weak transcription	Psoas Muscle	Psoas
34	chr3:160227200-160232800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:160227200-160232800	Weak transcription	Spleen	Spleen
36	chr3:160227200-160233200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr3:160227200-160234000	Weak transcription	Esophagus	oesophagus
38	chr3:160227200-160234800	Weak transcription	NHLF	lung
39	chr3:160227200-160238600	Weak transcription	Brain Angular Gyrus	brain
40	chr3:160227200-160238800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:160227400-160232600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:160227400-160233200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:160227400-160238600	Weak transcription	Brain Substantia Nigra	brain
44	chr3:160227800-160236200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr3:160229000-160233400	Weak transcription	Fetal Intestine Small	intestine
46	chr3:160229000-160253400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:160229200-160239000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr3:160229200-160247000	Strong transcription	Adipose Nuclei	Adipose
49	chr3:160229200-160252800	Strong transcription	Fetal Thymus	thymus
50	chr3:160229200-160253400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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