Variant report

Variant	esv20586
Chromosome Location	chr14:45611118-45612852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45610857..45613853-chr14:45722089..45724947,2	MCF-7	breast:
2	chr14:45603931..45606340-chr14:45612785..45615376,2	MCF-7	breast:
3	chr14:45600775..45605834-chr14:45607431..45611467,5	K562	blood:

Variant related genes	Relation type
ENSG00000187790	chromatin interactions
ENSG00000129534	chromatin interactions
ENSG00000100442	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555728310	chr14:45611133-45611134	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs547577737	chr14:45611166-45611167	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs62000273	chr14:45611196-45611197	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568180496	chr14:45611205-45611206	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs183813930	chr14:45611219-45611220	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs547496291	chr14:45611231-45611232	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs140578584	chr14:45611260-45611261	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs533663716	chr14:45611308-45611309	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs187480801	chr14:45611313-45611314	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs544411627	chr14:45611327-45611328	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs373759927	chr14:45611329-45611330	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs557807402	chr14:45611357-45611358	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs569890141	chr14:45611461-45611462	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs536852523	chr14:45611467-45611468	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs375521446	chr14:45611481-45611482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369873838	chr14:45611491-45611492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372288682	chr14:45611511-45611512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367714667	chr14:45611512-45611513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77068136	chr14:45611518-45611519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79380643	chr14:45611519-45611520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564098217	chr14:45611531-45611532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535587817	chr14:45611565-45611566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111947975	chr14:45611570-45611571	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572399013	chr14:45611610-45611611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546171574	chr14:45611671-45611672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112523216	chr14:45611692-45611693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs576645294	chr14:45611723-45611724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544044162	chr14:45611731-45611732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562300146	chr14:45611737-45611738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529488769	chr14:45611755-45611756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547561532	chr14:45611756-45611757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373293313	chr14:45611787-45611788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533476131	chr14:45611807-45611808	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs145341165	chr14:45611808-45611809	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192083865	chr14:45611809-45611810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374111238	chr14:45611854-45611855	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182681526	chr14:45611883-45611884	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536913864	chr14:45611903-45611904	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs540412515	chr14:45611963-45611964	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567154821	chr14:45612017-45612018	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534508732	chr14:45612172-45612173	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10130368	chr14:45612228-45612229	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs10130377	chr14:45612261-45612262	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10141474	chr14:45612275-45612276	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558096220	chr14:45612290-45612291	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576487938	chr14:45612369-45612370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs58148802	chr14:45612375-45612376	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376814800	chr14:45612377-45612378	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544153439	chr14:45612378-45612379	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs80230696	chr14:45612391-45612392	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45605800-45613800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:45605800-45613800	Weak transcription	Gastric	stomach
3	chr14:45605800-45613800	Weak transcription	Lung	lung
4	chr14:45605800-45618200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:45606000-45614000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:45606000-45618400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:45606000-45618600	Weak transcription	Left Ventricle	heart
8	chr14:45606000-45618800	Weak transcription	Placenta	Placenta
9	chr14:45606000-45622200	Weak transcription	Pancreas	Pancrea
10	chr14:45606000-45634600	Weak transcription	Esophagus	oesophagus
11	chr14:45606000-45679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:45606200-45622400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:45606400-45613800	Weak transcription	Spleen	Spleen
14	chr14:45606400-45615800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:45606400-45616000	Weak transcription	Right Ventricle	heart
16	chr14:45606400-45620600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:45606400-45641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:45606600-45630600	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:45606600-45634400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:45606600-45636400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:45607000-45613600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:45607000-45613800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:45607000-45613800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:45607000-45636400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:45607000-45660000	Weak transcription	Ovary	ovary
26	chr14:45607200-45613600	Weak transcription	Fetal Stomach	stomach
27	chr14:45607200-45613800	Weak transcription	Thymus	Thymus
28	chr14:45607200-45618000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:45607200-45619600	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:45607200-45633200	Weak transcription	Fetal Thymus	thymus
31	chr14:45607200-45634800	Weak transcription	HSMM	muscle
32	chr14:45607200-45638800	Weak transcription	Fetal Brain Female	brain
33	chr14:45607200-45639000	Weak transcription	Liver	Liver
34	chr14:45607400-45611200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:45607400-45611600	Weak transcription	Primary B cells from cord blood	blood
36	chr14:45607400-45613800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:45607400-45614200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:45607400-45615800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:45607400-45616000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:45607400-45618400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:45607400-45618600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:45607400-45618800	Weak transcription	Psoas Muscle	Psoas
43	chr14:45607400-45633200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr14:45607400-45633200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr14:45607400-45633600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:45607400-45633600	Weak transcription	Adipose Nuclei	Adipose
47	chr14:45607400-45633600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:45607400-45634400	Weak transcription	Fetal Intestine Small	intestine
49	chr14:45607400-45635600	Weak transcription	Fetal Lung	lung
50	chr14:45607400-45636600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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