Variant report

Variant	nsv516770
Chromosome Location	chr14:69204868-69210059
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	ARID3A	chr14:69206492-69206662	K562	blood:	n/a	n/a
2	ATF2	chr14:69208099-69209060	GM12878	blood:	n/a	n/a
3	ATF2	chr14:69208418-69208936	GM12878	blood:	n/a	n/a
4	BATF	chr14:69207889-69208423	GM12878	blood:	n/a	n/a
5	BATF	chr14:69208476-69208919	GM12878	blood:	n/a	n/a
6	BATF	chr14:69208520-69208967	GM12878	blood:	n/a	n/a
7	BCL11A	chr14:69208482-69208962	GM12878	blood:	n/a	chr14:69208592-69208601
8	BCL11A	chr14:69208514-69208946	GM12878	blood:	n/a	chr14:69208592-69208601
9	BCL3	chr14:69208479-69208914	GM12878	blood:	n/a	chr14:69208592-69208601
10	BCL3	chr14:69208417-69208863	GM12878	blood:	n/a	chr14:69208592-69208601
11	BCLAF1	chr14:69208462-69209026	GM12878	blood:	n/a	chr14:69208592-69208601
12	BCLAF1	chr14:69208467-69209022	GM12878	blood:	n/a	chr14:69208592-69208601
13	BHLHE40	chr14:69208517-69208973	GM12878	blood:	n/a	n/a
14	CBX3	chr14:69207546-69208297	K562	blood:	n/a	n/a
15	CBX3	chr14:69207853-69208190	K562	blood:	n/a	n/a
16	CBX3	chr14:69206510-69206840	K562	blood:	n/a	n/a
17	CEBPB	chr14:69208441-69209067	GM12878	blood:	n/a	n/a
18	CEBPB	chr14:69207698-69207808	HepG2	liver:	n/a	n/a
19	CEBPB	chr14:69208556-69208856	GM12878	blood:	n/a	n/a
20	CHD1	chr14:69208084-69208211	GM12878	blood:	n/a	n/a
21	CHD2	chr14:69208513-69208933	GM12878	blood:	n/a	n/a
22	CTCF	chr14:69208724-69208894	GM12878	blood:	n/a	n/a
23	CTCF	chr14:69208720-69208870	GM12873	blood:	n/a	n/a
24	CTCF	chr14:69208140-69208194	GM20000	blood:	n/a	n/a
25	CUX1	chr14:69208475-69209025	GM12878	blood:	n/a	n/a
26	EBF1	chr14:69208522-69208960	GM12878	blood:	n/a	n/a
27	EBF1	chr14:69208467-69208991	GM12878	blood:	n/a	n/a
28	EBF1	chr14:69208440-69209023	GM12878	blood:	n/a	n/a
29	ELF1	chr14:69208516-69209032	GM12878	blood:	n/a	chr14:69208804-69208815
30	ELK1	chr14:69208538-69208850	GM12878	blood:	n/a	n/a
31	EP300	chr14:69207605-69207826	K562	blood:	n/a	chr14:69207662-69207671
32	EP300	chr14:69208503-69208972	GM12878	blood:	n/a	n/a
33	EP300	chr14:69206491-69206704	K562	blood:	n/a	n/a
34	EP300	chr14:69208565-69208874	GM12878	blood:	n/a	n/a
35	EP300	chr14:69208426-69208931	GM12878	blood:	n/a	chr14:69208438-69208452 chr14:69208437-69208451 chr14:69208436-69208450 chr14:69208439-69208453
36	EP300	chr14:69208510-69208928	GM12878	blood:	n/a	n/a
37	FOS	chr14:69207662-69207730	MCF10A-Er-Src	breast:	n/a	chr14:69207663-69207672 chr14:69207662-69207672 chr14:69207664-69207671 chr14:69207662-69207671
38	FOS	chr14:69207477-69207834	HUVEC	blood vessel:	n/a	chr14:69207663-69207672 chr14:69207661-69207672 chr14:69207662-69207672 chr14:69207664-69207671 chr14:69207662-69207671 chr14:69207661-69207673
39	FOSL1	chr14:69207458-69207847	K562	blood:	n/a	chr14:69207663-69207672 chr14:69207662-69207672 chr14:69207664-69207671 chr14:69207662-69207671 chr14:69207661-69207673
40	FOSL2	chr14:69207523-69207767	HepG2	liver:	n/a	chr14:69207663-69207672 chr14:69207662-69207672 chr14:69207664-69207671 chr14:69207662-69207671 chr14:69207661-69207673
41	FOXM1	chr14:69208337-69209075	GM12878	blood:	n/a	n/a
42	FOXM1	chr14:69208363-69209064	GM12878	blood:	n/a	n/a
43	IKZF1	chr14:69208409-69208973	GM12878	blood:	n/a	chr14:69208860-69208868
44	IRF3	chr14:69208682-69208930	GM12878	blood:	n/a	n/a
45	IRF4	chr14:69208517-69208928	GM12878	blood:	n/a	n/a
46	IRF4	chr14:69208497-69209035	GM12878	blood:	n/a	n/a
47	JUND	chr14:69207605-69207757	HepG2	liver:	n/a	chr14:69207663-69207672 chr14:69207662-69207672 chr14:69207664-69207671 chr14:69207661-69207672 chr14:69207662-69207671 chr14:69207661-69207673
48	JUND	chr14:69207485-69207841	K562	blood:	n/a	chr14:69207663-69207672 chr14:69207662-69207672 chr14:69207664-69207671 chr14:69207661-69207672 chr14:69207662-69207671 chr14:69207661-69207673
49	JUND	chr14:69206514-69206516	K562	blood:	n/a	n/a
50	KAP1	chr14:69207712-69208300	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69207985..69212395-chr14:69259562..69262527,4	K562	blood:
2	chr14:69206574..69210602-chr14:69211879..69218026,8	K562	blood:
3	chr14:69208622..69210610-chr14:69239817..69242080,2	MCF-7	breast:
4	chr14:69204312..69206697-chr14:69251799..69254255,2	K562	blood:
5	chr14:69203768..69206140-chr14:69210311..69212920,2	K562	blood:
6	chr14:69206060..69208927-chr14:69216486..69218861,2	MCF-7	breast:
7	chr14:69185847..69187659-chr14:69204580..69206147,2	K562	blood:
8	chr14:69202084..69204834-chr14:69207553..69210284,2	MCF-7	breast:
9	chr14:69201544..69205045-chr14:69260784..69263529,4	K562	blood:
10	chr14:69206368..69210602-chr14:69212379..69216516,4	K562	blood:
11	chr14:69208318..69211269-chr14:69258281..69259846,2	MCF-7	breast:
12	chr14:69207813..69210397-chr14:69223055..69224594,2	K562	blood:
13	chr14:69192535..69194951-chr14:69208491..69210248,2	K562	blood:
14	chr14:69190862..69192650-chr14:69207435..69210240,2	K562	blood:
15	chr14:69206817..69209256-chr14:69210808..69212755,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-921P	TF binding region
ENSG00000207089	chromatin interactions
ENSG00000185650	chromatin interactions

Extended variants
information (count: 257 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:257 , 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	rs194770	chr14:69204868-69204869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116825946	chr14:69204913-69204914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148750960	chr14:69204934-69204935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144817468	chr14:69204947-69204948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552204754	chr14:69205004-69205005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560190899	chr14:69205005-69205006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549958360	chr14:69205028-69205029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147940490	chr14:69205046-69205047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs36021458	chr14:69205076-69205077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545898009	chr14:69205085-69205086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564060645	chr14:69205089-69205090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531910331	chr14:69205193-69205194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550155226	chr14:69205215-69205216	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs17757211	chr14:69205220-69205221	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs194769	chr14:69205251-69205252	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs183630336	chr14:69205254-69205255	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs565760399	chr14:69205261-69205262	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs202047228	chr14:69205266-69205267	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566105849	chr14:69205289-69205290	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140144753	chr14:69205294-69205295	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs145661406	chr14:69205306-69205307	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs151136372	chr14:69205354-69205355	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs28581750	chr14:69205406-69205407	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs570083105	chr14:69205407-69205408	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs538033682	chr14:69205409-69205410	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs194767	chr14:69205410-69205411	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs113506788	chr14:69205419-69205420	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556399721	chr14:69205421-69205422	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs194766	chr14:69205422-69205423	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs189436474	chr14:69205424-69205425	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs194765	chr14:69205437-69205438	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs8022118	chr14:69205450-69205451	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs12897005	chr14:69205453-69205454	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs535767804	chr14:69205456-69205457	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs8022539	chr14:69205468-69205469	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553768375	chr14:69205470-69205471	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs8003229	chr14:69205481-69205482	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs8003230	chr14:69205484-69205485	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs571990817	chr14:69205493-69205494	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs8022555	chr14:69205504-69205505	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs8022277	chr14:69205512-69205513	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs574192747	chr14:69205513-69205514	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs8022279	chr14:69205515-69205516	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs374078686	chr14:69205533-69205534	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs194768	chr14:69205543-69205544	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs114684240	chr14:69205545-69205546	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs12897173	chr14:69205546-69205547	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs115277277	chr14:69205556-69205557	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs6573856	chr14:69205557-69205558	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs543570969	chr14:69205569-69205570	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69198400-69214000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:69199600-69206800	Enhancers	Fetal Muscle Leg	muscle
3	chr14:69200000-69205400	Enhancers	Fetal Muscle Trunk	muscle
4	chr14:69200200-69207000	Enhancers	Fetal Stomach	stomach
5	chr14:69201000-69206200	Enhancers	Fetal Heart	heart
6	chr14:69201200-69222600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:69202400-69206200	Enhancers	Ovary	ovary
8	chr14:69202600-69209000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:69202800-69205200	Enhancers	Fetal Intestine Small	intestine
10	chr14:69202800-69224600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr14:69203400-69206000	Weak transcription	Fetal Kidney	kidney
12	chr14:69203600-69205000	Weak transcription	K562	blood
13	chr14:69203600-69213800	Weak transcription	Esophagus	oesophagus
14	chr14:69203800-69205400	Weak transcription	Left Ventricle	heart
15	chr14:69203800-69205400	Weak transcription	HSMMtube	muscle
16	chr14:69203800-69207200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:69203800-69207600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:69203800-69207600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:69203800-69208600	Weak transcription	Fetal Thymus	thymus
20	chr14:69204000-69205000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr14:69204000-69206000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:69204200-69205200	Weak transcription	Lung	lung
23	chr14:69204200-69206400	Weak transcription	Placenta	Placenta
24	chr14:69204200-69219200	Weak transcription	Adipose Nuclei	Adipose
25	chr14:69204400-69205400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:69204400-69205600	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:69204400-69205800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr14:69204400-69206000	Weak transcription	Fetal Lung	lung
29	chr14:69204400-69213800	Weak transcription	Right Atrium	heart
30	chr14:69204600-69205800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:69204600-69206000	Weak transcription	Fetal Intestine Large	intestine
32	chr14:69204800-69205600	Enhancers	Spleen	Spleen
33	chr14:69205000-69208000	Enhancers	K562	blood
34	chr14:69205000-69210400	Enhancers	Primary B cells from peripheral blood	blood
35	chr14:69205200-69205600	ZNF genes & repeats	Lung	lung
36	chr14:69205400-69205600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:69205400-69205600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
38	chr14:69205400-69205600	Enhancers	Left Ventricle	heart
39	chr14:69205400-69206400	Enhancers	HSMMtube	muscle
40	chr14:69205600-69205800	Enhancers	Colon Smooth Muscle	Colon
41	chr14:69205600-69214200	Weak transcription	Spleen	Spleen
42	chr14:69205600-69216200	Weak transcription	Lung	lung
43	chr14:69205800-69206000	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:69206000-69206200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr14:69206000-69206200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr14:69206000-69206200	Enhancers	Stomach Smooth Muscle	stomach
47	chr14:69206000-69206600	Enhancers	Fetal Lung	lung
48	chr14:69206000-69206800	Enhancers	Fetal Kidney	kidney
49	chr14:69206200-69206400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:69206200-69206400	Enhancers	Fetal Intestine Large	intestine

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