Variant report

Variant	nsv518669
Chromosome Location	chr14:68354542-68362510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68351071..68353646-chr14:68354565..68356448,2	MCF-7	breast:
2	chr14:68356714..68362753-chr14:69260089..69264133,5	MCF-7	breast:
3	chr14:68359134..68361352-chr14:68406025..68408962,2	MCF-7	breast:
4	chr14:68361251..68364282-chr14:68364886..68367550,3	MCF-7	breast:
5	chr14:68352272..68355022-chr14:69258244..69262334,3	MCF-7	breast:
6	chr14:68354393..68357388-chr14:69863254..69865122,2	MCF-7	breast:
7	chr14:68350691..68354590-chr14:68355924..68359840,3	MCF-7	breast:
8	chr14:68354841..68356509-chr14:69282085..69284702,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100632	chromatin interactions
ENSG00000185650	chromatin interactions
ENSG00000182185	chromatin interactions
ENSG00000029364	chromatin interactions

Extended variants
information (count: 252 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1950769	chr14:68354542-68354543	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532331994	chr14:68354572-68354573	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs144424690	chr14:68354578-68354579	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs371208297	chr14:68354614-68354615	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs567150227	chr14:68354624-68354625	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs545338948	chr14:68354632-68354633	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs73280477	chr14:68354651-68354652	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563615484	chr14:68354772-68354773	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs565744806	chr14:68354780-68354781	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs184024749	chr14:68354868-68354869	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs529721028	chr14:68354906-68354907	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs188759244	chr14:68354995-68354996	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs151107599	chr14:68355031-68355032	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs531239429	chr14:68355073-68355074	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs370596547	chr14:68355092-68355093	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs569842158	chr14:68355121-68355122	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs537032343	chr14:68355139-68355140	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs192078378	chr14:68355148-68355149	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs574273782	chr14:68355150-68355151	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs374418904	chr14:68355165-68355166	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs553492704	chr14:68355212-68355213	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs549764208	chr14:68355233-68355234	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs567934875	chr14:68355290-68355291	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs578123390	chr14:68355303-68355304	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs545888895	chr14:68355315-68355316	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs564150286	chr14:68355323-68355324	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs531471965	chr14:68355401-68355402	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs184472507	chr14:68355404-68355405	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs373849932	chr14:68355425-68355426	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs141103234	chr14:68355465-68355466	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs189261909	chr14:68355476-68355477	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs149865732	chr14:68355521-68355522	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs552151248	chr14:68355527-68355528	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs371348354	chr14:68355539-68355540	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs182496151	chr14:68355567-68355568	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs571076566	chr14:68355571-68355572	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs113268500	chr14:68355582-68355583	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs528986501	chr14:68355583-68355584	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs551195315	chr14:68355603-68355604	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs569805756	chr14:68355719-68355720	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs537196132	chr14:68355796-68355797	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs555296771	chr14:68355947-68355948	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs547135465	chr14:68356009-68356010	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs567562137	chr14:68356035-68356036	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs61987499	chr14:68356041-68356042	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs545222796	chr14:68356042-68356043	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs76022881	chr14:68356044-68356045	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs80016173	chr14:68356055-68356056	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs535291928	chr14:68356140-68356141	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs553414450	chr14:68356144-68356145	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68324600-68354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:68328000-68367800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:68331600-68357000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:68334600-68367600	Weak transcription	Primary B cells from cord blood	blood
5	chr14:68343800-68356400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:68348200-68363800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:68349000-68355000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr14:68350000-68359600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:68351200-68359200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:68351200-68363600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:68351400-68355000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:68351400-68356200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:68351400-68356400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr14:68351400-68357600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:68351400-68359200	Weak transcription	Fetal Muscle Leg	muscle
16	chr14:68351400-68361000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:68351400-68367600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:68351400-68367800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:68351600-68357000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:68351600-68367400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:68351800-68354800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:68352000-68367600	Weak transcription	Primary T cells from cord blood	blood
23	chr14:68352400-68354800	Enhancers	Fetal Intestine Large	intestine
24	chr14:68352800-68359600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:68353600-68355600	Active TSS	Ovary	ovary
26	chr14:68353600-68358000	Weak transcription	Fetal Intestine Small	intestine
27	chr14:68354000-68354600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr14:68354000-68354800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:68354400-68354600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr14:68354400-68354600	Enhancers	Fetal Kidney	kidney
31	chr14:68354400-68354600	Enhancers	Fetal Stomach	stomach
32	chr14:68354600-68356200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:68354600-68356600	Weak transcription	Fetal Kidney	kidney
34	chr14:68354800-68358000	Weak transcription	Fetal Intestine Large	intestine
35	chr14:68354800-68359400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:68355600-68359200	Weak transcription	Ovary	ovary
37	chr14:68356400-68356800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr14:68356400-68356800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr14:68356400-68357000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr14:68356800-68357000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr14:68357000-68359000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:68358000-68360200	Enhancers	Fetal Intestine Large	intestine
43	chr14:68358000-68361200	Enhancers	Fetal Intestine Small	intestine
44	chr14:68359000-68359600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr14:68359000-68359600	Enhancers	Duodenum Mucosa	Duodenum
46	chr14:68359000-68359800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr14:68359000-68359800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr14:68359000-68359800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:68359200-68359600	Enhancers	Fetal Muscle Leg	muscle
50	chr14:68359200-68359600	Enhancers	Pancreas	Pancrea

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