Variant report

Variant	esv3356815
Chromosome Location	chr14:31812826-31815374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:31813498-31813636	H1-hESC	embryonic stem cell:	n/a	n/a
2	STAT3	chr14:31812802-31813324	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31675418..31678639-chr14:31811864..31816181,5	MCF-7	breast:
2	chr14:31811249..31813398-chr14:31813760..31815314,2	MCF-7	breast:

Variant related genes	Relation type
HEATR5A	TF binding region
ENSG00000129493	chromatin interactions
ENSG00000092148	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548014932	chr14:31812861-31812862	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs573939320	chr14:31812870-31812871	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538049651	chr14:31812874-31812875	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs374069289	chr14:31812922-31812923	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555041161	chr14:31812933-31812934	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs578174210	chr14:31812949-31812950	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571159323	chr14:31813005-31813006	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372685805	chr14:31813007-31813008	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs545646840	chr14:31813011-31813012	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs559913366	chr14:31813040-31813041	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369945370	chr14:31813055-31813056	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571959991	chr14:31813090-31813091	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs372920581	chr14:31813120-31813121	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs368986432	chr14:31813136-31813137	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs375494310	chr14:31813160-31813161	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560954968	chr14:31813218-31813219	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370650666	chr14:31813221-31813222	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs531583122	chr14:31813233-31813234	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs373371076	chr14:31813291-31813292	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs549985713	chr14:31813344-31813345	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368120504	chr14:31813393-31813394	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs115367452	chr14:31813409-31813410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79605686	chr14:31813444-31813445	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11625573	chr14:31813445-31813446	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs73259312	chr14:31813458-31813459	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374541371	chr14:31813474-31813475	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577497140	chr14:31813475-31813476	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78222182	chr14:31813497-31813498	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs79122608	chr14:31813499-31813500	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76026354	chr14:31813502-31813503	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs199585827	chr14:31813519-31813520	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566763450	chr14:31813520-31813521	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75401968	chr14:31813539-31813540	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549109911	chr14:31813543-31813544	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs61995554	chr14:31813553-31813554	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs11625583	chr14:31813558-31813559	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538086464	chr14:31813568-31813569	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs79627795	chr14:31813570-31813571	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
39	rs578104155	chr14:31813576-31813577	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538967725	chr14:31813610-31813611	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs59458269	chr14:31813716-31813717	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182496759	chr14:31813735-31813736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148910792	chr14:31813754-31813755	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187137248	chr14:31813780-31813781	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561777692	chr14:31813787-31813788	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs542641318	chr14:31813790-31813791	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs79508091	chr14:31813876-31813877	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200092495	chr14:31813878-31813879	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201379010	chr14:31813879-31813880	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370109175	chr14:31813880-31813881	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Esophageal cancer	20955586	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr14:31782200-31813000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:31782200-31814000	Weak transcription	Fetal Kidney	kidney
5	chr14:31782200-31875200	Weak transcription	Gastric	stomach
6	chr14:31782400-31827000	Weak transcription	Aorta	Aorta
7	chr14:31799600-31827000	Weak transcription	Right Ventricle	heart
8	chr14:31799800-31814400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:31799800-31815600	Weak transcription	Colonic Mucosa	Colon
10	chr14:31799800-31829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
12	chr14:31800200-31839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:31800400-31838200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:31801200-31823400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
16	chr14:31801400-31862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
18	chr14:31801600-31824000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:31801800-31824400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:31801800-31862600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:31802400-31825000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr14:31802400-31827200	Weak transcription	Brain Substantia Nigra	brain
24	chr14:31802400-31842800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:31802600-31825000	Weak transcription	GM12878-XiMat	blood
26	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
27	chr14:31803200-31814200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:31803400-31817600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr14:31803600-31813000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:31803600-31813600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:31803600-31825000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr14:31803600-31833000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr14:31803800-31843600	Weak transcription	A549	lung
35	chr14:31803800-31852200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:31804000-31825000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:31805600-31816400	Weak transcription	Fetal Stomach	stomach
38	chr14:31805600-31825000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:31805600-31851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:31806000-31819600	Strong transcription	HSMM	muscle
41	chr14:31806200-31850800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:31806400-31825400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:31806400-31829200	Strong transcription	Placenta	Placenta
44	chr14:31806600-31826600	Weak transcription	NHEK	skin
45	chr14:31806600-31826800	Weak transcription	Hela-S3	cervix
46	chr14:31807000-31815800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:31807400-31825400	Weak transcription	Psoas Muscle	Psoas
48	chr14:31808000-31872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr14:31808600-31827000	Weak transcription	Lung	lung
50	chr14:31808800-31818200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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