Variant report

Variant	esv2761842
Chromosome Location	chr14:69431091-69434387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69431143..69434095-chr14:69444697..69447020,3	K562	blood:
2	chr14:69328564..69331067-chr14:69432444..69435410,2	MCF-7	breast:
3	chr14:69414883..69418076-chr14:69430003..69433073,3	MCF-7	breast:
4	chr14:69431359..69433978-chr14:69434741..69437243,2	K562	blood:
5	chr14:69412106..69413788-chr14:69432458..69434178,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072110	chromatin interactions
ENSG00000259062	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2268966	chr14:69431091-69431092	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139668295	chr14:69431103-69431104	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs77708476	chr14:69431131-69431132	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs11627719	chr14:69431158-69431159	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188467966	chr14:69431161-69431162	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs569543790	chr14:69431359-69431360	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs181085736	chr14:69431364-69431365	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554970724	chr14:69431464-69431465	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs149774592	chr14:69431466-69431467	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372197381	chr14:69431495-69431496	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs564966425	chr14:69431499-69431500	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs72733548	chr14:69431502-69431503	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs552742567	chr14:69431512-69431513	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs147895046	chr14:69431590-69431591	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184918604	chr14:69431624-69431625	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs111391795	chr14:69431625-69431626	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs556933290	chr14:69431759-69431760	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs575509448	chr14:69431765-69431766	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs141671887	chr14:69431835-69431836	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560965725	chr14:69431870-69431871	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs537143776	chr14:69431894-69431895	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs189849282	chr14:69431993-69431994	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs7159001	chr14:69432044-69432045	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs118157214	chr14:69432082-69432083	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564975915	chr14:69432103-69432104	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs145479439	chr14:69432148-69432149	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551171628	chr14:69432228-69432229	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs530688129	chr14:69432288-69432289	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs530453826	chr14:69432452-69432453	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548275975	chr14:69432465-69432466	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs2024892	chr14:69432484-69432485	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs534027341	chr14:69432517-69432518	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs552202626	chr14:69432524-69432525	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs2024893	chr14:69432579-69432580	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs147716003	chr14:69432662-69432663	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs557139775	chr14:69432678-69432679	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs575425826	chr14:69432697-69432698	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs116163088	chr14:69432703-69432704	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs554258949	chr14:69432714-69432715	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs572923707	chr14:69432715-69432716	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs11629239	chr14:69432729-69432730	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540243793	chr14:69432760-69432761	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs182061671	chr14:69432762-69432763	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs577036345	chr14:69432763-69432764	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs10151419	chr14:69432831-69432832	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs55820678	chr14:69432856-69432857	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs111425887	chr14:69432871-69432872	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs111388224	chr14:69432876-69432877	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs186873601	chr14:69432883-69432884	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs557567106	chr14:69432887-69432888	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	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
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
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69409800-69434400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
3	chr14:69420200-69437200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:69420200-69441200	Genic enhancers	NHEK	skin
5	chr14:69420600-69441600	Genic enhancers	NH-A	brain
6	chr14:69421000-69432200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr14:69421200-69442200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:69422400-69433600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:69423000-69435000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:69423600-69432400	Weak transcription	K562	blood
11	chr14:69424000-69433200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr14:69424400-69433000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr14:69424400-69433200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr14:69424600-69433200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:69425000-69431400	Weak transcription	Hela-S3	cervix
16	chr14:69425000-69432200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:69425200-69431400	Enhancers	Rectal Smooth Muscle	rectum
18	chr14:69426000-69432200	Weak transcription	Brain Substantia Nigra	brain
19	chr14:69426000-69433600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:69426000-69436600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:69426200-69436400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:69426200-69436600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:69426200-69436800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr14:69426600-69431800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:69426600-69434600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr14:69427600-69433400	Enhancers	Fetal Muscle Leg	muscle
27	chr14:69427600-69437600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:69427600-69437600	Enhancers	Left Ventricle	heart
29	chr14:69428200-69432800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:69428400-69431400	Genic enhancers	Primary T cells from cord blood	blood
31	chr14:69428400-69431600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr14:69428400-69432000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:69428400-69432800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:69428400-69437200	Enhancers	Adipose Nuclei	Adipose
35	chr14:69428400-69437200	Genic enhancers	NHLF	lung
36	chr14:69428400-69442200	Genic enhancers	Fetal Stomach	stomach
37	chr14:69428600-69431600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:69428600-69439800	Genic enhancers	Fetal Intestine Small	intestine
39	chr14:69428600-69443400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:69428800-69434200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr14:69429000-69433400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:69429000-69436200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr14:69429200-69431200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:69429200-69431800	Weak transcription	Esophagus	oesophagus
45	chr14:69429200-69439600	Enhancers	Fetal Thymus	thymus
46	chr14:69429400-69432000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:69429400-69443800	Weak transcription	Brain Germinal Matrix	brain
48	chr14:69429600-69431200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:69429600-69432400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr14:69429800-69431400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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