Variant report

Variant	nsv977482
Chromosome Location	chr14:68805289-68806594
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	CBX3	chr14:68805330-68805634	K562	blood:	n/a	n/a
2	POLR2A	chr14:68805734-68806017	A549	lung:	n/a	n/a
3	POLR2A	chr14:68805921-68805947	MCF-7	breast:	n/a	n/a
4	STAT3	chr14:68805313-68805323	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68806501..68808073-chr14:68812909..68815753,2	MCF-7	breast:
2	chr14:68802480..68804741-chr14:68806549..68808439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240210	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572097180	chr14:68805300-68805301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs911254	chr14:68805323-68805324	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs558248085	chr14:68805333-68805334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576526570	chr14:68805346-68805347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543865549	chr14:68805368-68805369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556696041	chr14:68805371-68805372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375292727	chr14:68805378-68805379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562054929	chr14:68805393-68805394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574322992	chr14:68805448-68805449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541317491	chr14:68805449-68805450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72727447	chr14:68805450-68805451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2013413	chr14:68805451-68805452	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561644855	chr14:68805528-68805529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551873042	chr14:68805567-68805568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142149962	chr14:68805597-68805598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151201868	chr14:68805598-68805599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376599023	chr14:68805682-68805683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368973135	chr14:68805699-68805700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192479595	chr14:68805709-68805710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567717395	chr14:68805710-68805711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1810623	chr14:68805725-68805726	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184983403	chr14:68805726-68805727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565883963	chr14:68805730-68805731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539229209	chr14:68805754-68805755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188163898	chr14:68805807-68805808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576649877	chr14:68805814-68805815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191433675	chr14:68805820-68805821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537537910	chr14:68805831-68805832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555799958	chr14:68805837-68805838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570605601	chr14:68805927-68805928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573910074	chr14:68805939-68805940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541724777	chr14:68805946-68805947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552817489	chr14:68805965-68805966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140355828	chr14:68805995-68805996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578178392	chr14:68806012-68806013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545228283	chr14:68806064-68806065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563533849	chr14:68806068-68806069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531354461	chr14:68806076-68806077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549420245	chr14:68806092-68806093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561734751	chr14:68806125-68806126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149959380	chr14:68806206-68806207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377759055	chr14:68806256-68806257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547692386	chr14:68806288-68806289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184577456	chr14:68806338-68806339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147651440	chr14:68806345-68806346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189804194	chr14:68806346-68806347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369892906	chr14:68806355-68806356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73274125	chr14:68806377-68806378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs572593345	chr14:68806385-68806386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537550173	chr14:68806398-68806399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68785600-68812400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:68788200-68807000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:68789600-68810400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:68799400-68806400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:68799600-68806400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:68799800-68808000	Weak transcription	Fetal Lung	lung
8	chr14:68800000-68807400	Weak transcription	Fetal Stomach	stomach
9	chr14:68800000-68808200	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:68800000-68808400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:68803400-68807000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:68804000-68810400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:68804000-68813400	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:68804400-68805800	Enhancers	GM12878-XiMat	blood
15	chr14:68804400-68806400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:68804400-68806800	Weak transcription	Primary B cells from cord blood	blood
17	chr14:68804400-68807400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:68804400-68808200	Weak transcription	Primary T cells from cord blood	blood
19	chr14:68804400-68812800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:68804600-68808200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr14:68804800-68808200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:68805000-68806800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:68805000-68807000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:68805000-68808800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr14:68805200-68807000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:68805200-68807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:68805200-68808200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:68805200-68808400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:68805600-68805800	Enhancers	Gastric	stomach
30	chr14:68805800-68806400	Weak transcription	GM12878-XiMat	blood
31	chr14:68805800-68807000	Weak transcription	Gastric	stomach
32	chr14:68806200-68811200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:68806400-68806800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr14:68806400-68808800	Enhancers	GM12878-XiMat	blood
35	chr14:68806400-68810800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr14:68806400-68810800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr14:68806400-68810800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr14:68806400-68811000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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