Variant report

Variant	esv3451515
Chromosome Location	chr14:68301346-68301831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68297953..68300289-chr14:68301292..68303564,3	MCF-7	breast:
2	chr14:68299804..68301953-chr14:69252103..69254341,2	MCF-7	breast:
3	chr14:68301208..68304159-chr14:69257009..69259778,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8017013	chr14:68301405-68301406	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559673070	chr14:68301446-68301447	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533383966	chr14:68301470-68301471	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551847743	chr14:68301482-68301483	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181155574	chr14:68301522-68301523	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs531162559	chr14:68301577-68301578	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549375103	chr14:68301595-68301596	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568310963	chr14:68301605-68301606	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535406178	chr14:68301750-68301751	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372976476	chr14:68301759-68301760	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184815928	chr14:68301764-68301765	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531055380	chr14:68301767-68301768	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34564590	chr14:68301768-68301769	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs397897257	chr14:68301775-68301776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35183950	chr14:68301776-68301777	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572828898	chr14:68301788-68301789	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190059291	chr14:68301824-68301825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68287200-68303600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:68287400-68304800	Weak transcription	Lung	lung
3	chr14:68287400-68312800	Weak transcription	Aorta	Aorta
4	chr14:68287400-68312800	Weak transcription	Esophagus	oesophagus
5	chr14:68287400-68315200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:68287600-68301400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:68287600-68302800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:68287600-68303600	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:68287600-68303800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:68287600-68304800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:68287600-68306000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:68287600-68317800	Weak transcription	Spleen	Spleen
13	chr14:68287800-68304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:68287800-68305000	Weak transcription	Fetal Kidney	kidney
15	chr14:68287800-68306400	Weak transcription	Fetal Lung	lung
16	chr14:68287800-68310600	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:68287800-68318200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:68288000-68306400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:68288000-68306400	Weak transcription	HepG2	liver
20	chr14:68288000-68306800	Weak transcription	A549	lung
21	chr14:68288200-68302400	Weak transcription	GM12878-XiMat	blood
22	chr14:68288200-68304000	Weak transcription	K562	blood
23	chr14:68288200-68306200	Weak transcription	NHDF-Ad	bronchial
24	chr14:68288400-68303800	Weak transcription	Liver	Liver
25	chr14:68289600-68304800	Weak transcription	Fetal Intestine Large	intestine
26	chr14:68291400-68312600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:68291600-68303200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:68293800-68301800	Weak transcription	Fetal Intestine Small	intestine
29	chr14:68293800-68302400	Weak transcription	Thymus	Thymus
30	chr14:68294000-68303000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:68294200-68304600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:68294200-68315000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr14:68294200-68316600	Weak transcription	Placenta	Placenta
34	chr14:68294400-68303200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr14:68294400-68304400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr14:68294400-68304600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:68294400-68306400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:68294400-68312400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:68294600-68302400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:68294600-68302400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:68294600-68302400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:68294600-68304200	Weak transcription	Fetal Muscle Leg	muscle
43	chr14:68294600-68305400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:68294600-68312000	Weak transcription	Fetal Stomach	stomach
45	chr14:68294600-68312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:68294600-68318200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:68294800-68306600	Weak transcription	Fetal Thymus	thymus
48	chr14:68294800-68312800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:68295600-68302000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:68295600-68302400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links