Variant report

Variant	esv3388531
Chromosome Location	chr14:97347058-97347564
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	chr14:97347013..97350002-chr14:97352064..97354916,2	K562	blood:
2	chr14:97340745..97343409-chr14:97344880..97348129,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAPOLA-4	chr14:97347514-97347744	NONHSAT039553

Variant related genes	Relation type
ENSG00000100749	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531697689	chr14:97347087-97347088	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs75983219	chr14:97347097-97347098	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs61481986	chr14:97347106-97347107	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529510731	chr14:97347125-97347126	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12589919	chr14:97347131-97347132	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs566069667	chr14:97347146-97347147	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376022424	chr14:97347218-97347219	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539724420	chr14:97347243-97347244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558003278	chr14:97347251-97347252	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146997342	chr14:97347263-97347264	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184336797	chr14:97347284-97347285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188381121	chr14:97347287-97347288	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573674134	chr14:97347289-97347290	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541267983	chr14:97347309-97347310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181320922	chr14:97347362-97347363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs578019548	chr14:97347397-97347398	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570400992	chr14:97347426-97347427	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373319483	chr14:97347482-97347483	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs199916225	chr14:97347512-97347513	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185062090	chr14:97347532-97347533	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs200068271	chr14:97347538-97347539	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Glioblastoma	21080181	CNVD
Cancer	20164920	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Breast cancer	21509527	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	17426248	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97294000-97362600	Weak transcription	Spleen	Spleen
2	chr14:97297600-97353400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:97298800-97348800	Strong transcription	Dnd41	blood
4	chr14:97298800-97350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:97299400-97353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:97303400-97371600	Weak transcription	Ovary	ovary
7	chr14:97308200-97348800	Weak transcription	Fetal Intestine Small	intestine
8	chr14:97314800-97347600	Weak transcription	Lung	lung
9	chr14:97314800-97355000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:97315600-97350400	Weak transcription	NHDF-Ad	bronchial
11	chr14:97322000-97348400	Weak transcription	HSMM	muscle
12	chr14:97322200-97354200	Weak transcription	Hela-S3	cervix
13	chr14:97323800-97354600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:97324000-97350800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:97324000-97352600	Weak transcription	HMEC	breast
16	chr14:97324200-97348400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:97324200-97350600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:97324200-97354200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:97325200-97353800	Weak transcription	Fetal Lung	lung
20	chr14:97325200-97354600	Weak transcription	Thymus	Thymus
21	chr14:97325600-97362000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr14:97331000-97378400	Weak transcription	A549	lung
23	chr14:97331400-97347200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:97333000-97348800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:97337400-97354200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:97338400-97355200	Weak transcription	Psoas Muscle	Psoas
27	chr14:97338600-97348200	Weak transcription	Small Intestine	intestine
28	chr14:97340200-97350400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:97340800-97348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:97340800-97348400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:97341000-97348000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:97341000-97354200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:97341400-97357400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr14:97342400-97347200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:97342400-97349200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr14:97342800-97347800	Weak transcription	Adipose Nuclei	Adipose
37	chr14:97342800-97348600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:97342800-97354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:97342800-97367000	Weak transcription	NHEK	skin
40	chr14:97343000-97350400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:97343000-97350800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:97343200-97347200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:97343200-97354600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr14:97343400-97350600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr14:97343600-97348400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:97344200-97347800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:97344200-97348000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:97344200-97348600	Weak transcription	Primary T cells from cord blood	blood
49	chr14:97344200-97350800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:97344200-97351000	Weak transcription	Left Ventricle	heart

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