Variant report

Variant	esv3390402
Chromosome Location	chr14:31528301-31530399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31493363..31498138-chr14:31527372..31532958,10	K562	blood:
2	chr14:31528189..31530334-chr14:31549926..31552268,2	K562	blood:
3	chr14:31507963..31510903-chr14:31527349..31529019,3	K562	blood:
4	chr14:31526419..31528141-chr14:31528896..31530548,2	MCF-7	breast:
5	chr14:31529023..31531109-chr14:31534744..31536932,2	K562	blood:
6	chr14:31520948..31523210-chr14:31526631..31529023,2	K562	blood:

Variant related genes	Relation type
ENSG00000196792	chromatin interactions
ENSG00000100478	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546044406	chr14:31528327-31528328	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537496422	chr14:31528336-31528337	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs573105658	chr14:31528404-31528405	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs367737282	chr14:31528427-31528428	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540111119	chr14:31528430-31528431	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562013597	chr14:31528569-31528570	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550994665	chr14:31528597-31528598	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs145008020	chr14:31528602-31528603	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs548549215	chr14:31528650-31528651	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190980675	chr14:31528738-31528739	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs574875174	chr14:31528818-31528819	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs61622691	chr14:31528819-31528820	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567618695	chr14:31528861-31528862	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs183710123	chr14:31528922-31528923	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs117488346	chr14:31528964-31528965	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs547022720	chr14:31529011-31529012	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs17449560	chr14:31529072-31529073	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs577575338	chr14:31529136-31529137	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374190974	chr14:31529138-31529139	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs183185729	chr14:31529149-31529150	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs71941587	chr14:31529170-31529171	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs61976843	chr14:31529175-31529176	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs61976844	chr14:31529179-31529180	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs61976845	chr14:31529183-31529184	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs12886908	chr14:31529186-31529187	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs61976846	chr14:31529187-31529188	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs61976847	chr14:31529191-31529192	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs61976848	chr14:31529195-31529196	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs200126684	chr14:31529197-31529198	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs12885518	chr14:31529199-31529200	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200751657	chr14:31529201-31529202	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs377034420	chr14:31529202-31529203	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs60812339	chr14:31529205-31529206	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs369489735	chr14:31529208-31529209	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs74544398	chr14:31529211-31529212	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373529047	chr14:31529238-31529239	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557990021	chr14:31529259-31529260	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573000328	chr14:31529263-31529264	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs374386546	chr14:31529361-31529362	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs540414075	chr14:31529373-31529374	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs561869832	chr14:31529383-31529384	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs141721781	chr14:31529416-31529417	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs367802161	chr14:31529475-31529476	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs61976849	chr14:31529481-31529482	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530921131	chr14:31529482-31529483	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs552206430	chr14:31529505-31529506	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs186803374	chr14:31529551-31529552	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs564234112	chr14:31529552-31529553	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs192708209	chr14:31529553-31529554	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs117127466	chr14:31529560-31529561	Enhancers Weak transcription	Chromatin interactive region	2 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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	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
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
2	chr14:31497600-31552800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:31501200-31544200	Weak transcription	Primary B cells from cord blood	blood
4	chr14:31501200-31550000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:31503400-31528400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:31507000-31537600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr14:31507200-31539200	Weak transcription	Fetal Stomach	stomach
8	chr14:31507800-31549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:31508000-31538400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr14:31508200-31537600	Weak transcription	Primary T cells from cord blood	blood
11	chr14:31517200-31529400	Weak transcription	Right Ventricle	heart
12	chr14:31520400-31528800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:31522800-31552800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:31522800-31553600	Weak transcription	Lung	lung
15	chr14:31523000-31528800	Weak transcription	Right Atrium	heart
16	chr14:31523000-31529000	Weak transcription	Ovary	ovary
17	chr14:31523200-31528600	Weak transcription	NHDF-Ad	bronchial
18	chr14:31523400-31528400	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:31524800-31528400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:31525000-31535400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:31525800-31530000	Enhancers	Hela-S3	cervix
22	chr14:31526000-31528400	Enhancers	HMEC	breast
23	chr14:31526000-31528400	Enhancers	NHEK	skin
24	chr14:31526000-31530000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:31526000-31530200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:31526400-31530000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr14:31526400-31530000	Enhancers	HSMMtube	muscle
28	chr14:31526400-31530800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr14:31526800-31528400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr14:31527200-31529600	Enhancers	HepG2	liver
31	chr14:31527200-31530000	Enhancers	Fetal Intestine Large	intestine
32	chr14:31527400-31528400	Enhancers	Colonic Mucosa	Colon
33	chr14:31527400-31528800	Weak transcription	Spleen	Spleen
34	chr14:31527400-31529800	Enhancers	HSMM	muscle
35	chr14:31527400-31530000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr14:31527400-31530800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr14:31527600-31528600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr14:31527600-31530000	Enhancers	Fetal Intestine Small	intestine
39	chr14:31527800-31529000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr14:31527800-31529800	Enhancers	A549	lung
41	chr14:31527800-31530000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:31527800-31530000	Enhancers	Placenta	Placenta
43	chr14:31527800-31530200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr14:31527800-31531200	Enhancers	Psoas Muscle	Psoas
45	chr14:31527800-31537800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:31528000-31528800	Enhancers	Liver	Liver
47	chr14:31528000-31528800	Weak transcription	Small Intestine	intestine
48	chr14:31528000-31529000	Flanking Active TSS	K562	blood
49	chr14:31528000-31529400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:31528000-31529400	Weak transcription	Esophagus	oesophagus

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