Variant report

Variant	esv1846932
Chromosome Location	chr14:38842788-38944821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:38898733..38900505-chr14:38900803..38902931,2	K562	blood:
2	chr14:38862979..38864532-chr14:38872147..38873752,2	MCF-7	breast:
3	chr14:38898733..38900505-chr14:38900803..38902931,2	K562	blood:
4	chr14:38862979..38864532-chr14:38872147..38873752,2	MCF-7	breast:

Extended variants
information (count: 1562 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1562 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111446031	chr14:38853202-38853203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114086115	chr14:38853276-38853277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185222083	chr14:38853298-38853299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189982368	chr14:38853343-38853344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182910633	chr14:38853350-38853351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572390269	chr14:38853351-38853352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548700641	chr14:38855290-38855291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530053396	chr14:38855301-38855302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568110100	chr14:38855317-38855318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537048761	chr14:38855333-38855334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557199602	chr14:38855414-38855415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139527386	chr14:38855439-38855440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75101087	chr14:38855480-38855481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553278911	chr14:38855491-38855492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61976044	chr14:38855502-38855503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542076336	chr14:38855537-38855538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144184157	chr14:38855540-38855541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76948654	chr14:38855567-38855568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4901851	chr14:38855578-38855579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187822943	chr14:38855593-38855594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10484115	chr14:38855608-38855609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145419769	chr14:38855649-38855650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533056002	chr14:38855739-38855740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1999140	chr14:38855796-38855797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374441187	chr14:38855833-38855834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139113709	chr14:38855880-38855881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142423941	chr14:38855906-38855907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34709967	chr14:38855939-38855940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530866579	chr14:38855955-38855956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369176794	chr14:38856008-38856009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1168549	chr14:38856176-38856177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552075201	chr14:38856179-38856180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75750374	chr14:38856182-38856183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151298316	chr14:38856271-38856272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142116820	chr14:38856279-38856280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79247229	chr14:38856289-38856290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550540794	chr14:38856303-38856304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570549270	chr14:38856386-38856387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539737625	chr14:38856417-38856418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570704266	chr14:38856465-38856466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35496652	chr14:38856481-38856482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10134648	chr14:38856484-38856485	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs566905373	chr14:38856487-38856488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536058127	chr14:38856488-38856489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555469516	chr14:38856613-38856614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372950068	chr14:38856619-38856620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369904255	chr14:38856654-38856655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144307476	chr14:38856663-38856664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546726146	chr14:38856673-38856674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568024614	chr14:38856723-38856724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intellectual disability	21811512	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	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:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38853200-38853400	Enhancers	HUVEC	blood vessel
2	chr14:38855200-38856000	Enhancers	HUVEC	blood vessel
3	chr14:38856000-38859200	Weak transcription	HUVEC	blood vessel
4	chr14:38856400-38857400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:38856600-38861200	Enhancers	NHDF-Ad	bronchial
6	chr14:38856800-38857000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:38856800-38857000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:38857000-38857400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:38857400-38858600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:38857400-38859200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:38857600-38857800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:38858600-38860000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:38858800-38859400	Enhancers	Fetal Lung	lung
14	chr14:38859000-38859800	Enhancers	Rectal Smooth Muscle	rectum
15	chr14:38859000-38860000	Enhancers	Fetal Stomach	stomach
16	chr14:38859200-38859400	Enhancers	Small Intestine	intestine
17	chr14:38859200-38859400	Enhancers	NHLF	lung
18	chr14:38859200-38860000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:38859200-38860000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:38859200-38860000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:38859200-38860000	Enhancers	Fetal Muscle Leg	muscle
22	chr14:38859200-38860000	Enhancers	Gastric	stomach
23	chr14:38859200-38860400	Enhancers	Colon Smooth Muscle	Colon
24	chr14:38859200-38860400	Enhancers	HUVEC	blood vessel
25	chr14:38859600-38860600	Weak transcription	Small Intestine	intestine
26	chr14:38859600-38860600	Weak transcription	NHLF	lung
27	chr14:38860000-38860400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:38860000-38861000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:38860000-38861000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:38860000-38861000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:38860000-38861400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr14:38860400-38861200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:38860400-38861200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:38860400-38861200	Flanking Active TSS	HUVEC	blood vessel
35	chr14:38860600-38861000	Enhancers	Small Intestine	intestine
36	chr14:38860600-38861200	Enhancers	NHLF	lung
37	chr14:38860800-38861200	Enhancers	Liver	Liver
38	chr14:38860800-38861200	Enhancers	NH-A	brain
39	chr14:38860800-38861400	Enhancers	Hela-S3	cervix
40	chr14:38861000-38861200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:38861000-38861200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:38861000-38861200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:38861000-38862200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr14:38861200-38862000	Enhancers	HUVEC	blood vessel
45	chr14:38862200-38863600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:38868600-38868800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr14:38868600-38879800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr14:38869000-38870400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:38870000-38871800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:38870000-38876000	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links