Variant report

Variant	nsv983817
Chromosome Location	chr14:39577051-39579335
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	ATF2	chr14:39578944-39579482	GM12878	blood:	n/a	n/a
2	CTCF	chr14:39576789-39577078	K562	blood:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
3	CTCF	chr14:39576960-39577110	HAc	cerebellar:	n/a	n/a
4	CTCF	chr14:39577220-39577370	HepG2	liver:	n/a	n/a
5	CTCF	chr14:39576920-39577070	NB4	blood:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
6	CTCF	chr14:39576636-39577217	MCF-7	breast:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
7	CTCF	chr14:39576780-39577064	A549	lung:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
8	CTCF	chr14:39576920-39577070	K562	blood:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
9	CTCF	chr14:39576780-39577061	HepG2	liver:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
10	CTCF	chr14:39576667-39577294	SK-N-SH	brain:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
11	CTCF	chr14:39576417-39577386	A549	lung:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
12	CTCF	chr14:39576920-39577070	GM12878	blood:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
13	CTCF	chr14:39576683-39577145	T-47D	breast:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
14	CTCF	chr14:39576725-39577120	GM12878	blood:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
15	CTCF	chr14:39576779-39577114	A549	lung:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
16	CTCF	chr14:39576588-39577204	HCT-116	colon:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
17	CTCF	chr14:39576748-39577087	HCT-116	colon:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
18	CTCF	chr14:39576790-39577095	H1-hESC	embryonic stem cell:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
19	CTCF	chr14:39576920-39577070	GM12875	blood:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
20	CTCF	chr14:39576602-39577186	K562	blood:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
21	CTCF	chr14:39578280-39578430	A549	lung:	n/a	n/a
22	CTCF	chr14:39576582-39577150	HepG2	liver:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
23	CTCF	chr14:39576794-39577064	HUVEC	blood vessel:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
24	CTCF	chr14:39576631-39577137	IMR90	lung:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
25	CTCF	chr14:39576685-39577181	MCF-7	breast:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
26	CUX1	chr14:39579299-39579397	GM12878	blood:	n/a	n/a
27	CUX1	chr14:39576788-39577110	K562	blood:	n/a	n/a
28	EP300	chr14:39579307-39579414	GM12878	blood:	n/a	n/a
29	EP300	chr14:39579214-39579412	GM12878	blood:	n/a	n/a
30	FOXA1	chr14:39576641-39577087	HepG2	liver:	n/a	n/a
31	GATA3	chr14:39579329-39579716	T-47D	breast:	n/a	n/a
32	MAFF	chr14:39578034-39578321	K562	blood:	n/a	chr14:39578179-39578197
33	MAFF	chr14:39578022-39578347	HepG2	liver:	n/a	chr14:39578179-39578197
34	MAFK	chr14:39578025-39578339	IMR90	lung:	n/a	chr14:39578181-39578192 chr14:39578181-39578197 chr14:39578182-39578193 chr14:39578181-39578192 chr14:39578180-39578194 chr14:39578181-39578196 chr14:39578182-39578193
35	MAFK	chr14:39578007-39578365	HepG2	liver:	n/a	chr14:39578181-39578192 chr14:39578181-39578197 chr14:39578182-39578193 chr14:39578181-39578192 chr14:39578180-39578194 chr14:39578181-39578196 chr14:39578182-39578193
36	MAFK	chr14:39578146-39578224	Hela-S3	cervix:	n/a	chr14:39578181-39578192 chr14:39578181-39578197 chr14:39578182-39578193 chr14:39578181-39578192 chr14:39578180-39578194 chr14:39578181-39578196 chr14:39578182-39578193
37	MAFK	chr14:39578062-39578337	K562	blood:	n/a	chr14:39578181-39578192 chr14:39578181-39578197 chr14:39578182-39578193 chr14:39578181-39578192 chr14:39578180-39578194 chr14:39578181-39578196 chr14:39578182-39578193
38	MAFK	chr14:39578023-39578348	HepG2	liver:	n/a	chr14:39578181-39578192 chr14:39578181-39578197 chr14:39578182-39578193 chr14:39578181-39578192 chr14:39578180-39578194 chr14:39578181-39578196 chr14:39578182-39578193
39	MEF2A	chr14:39578979-39579444	GM12878	blood:	n/a	n/a
40	MEF2A	chr14:39578913-39579321	GM12878	blood:	n/a	n/a
41	MEF2C	chr14:39578934-39579441	GM12878	blood:	n/a	n/a
42	NFIC	chr14:39578922-39579464	GM12878	blood:	n/a	n/a
43	POLR2A	chr14:39579058-39579458	GM12892	blood:	n/a	n/a
44	POLR2A	chr14:39579131-39579378	GM12891	blood:	n/a	n/a
45	POLR2A	chr14:39579045-39579564	GM12892	blood:	n/a	n/a
46	POLR2A	chr14:39579096-39579408	GM12892	blood:	n/a	n/a
47	RAD21	chr14:39576564-39577217	SK-N-SH	brain:	n/a	chr14:39576932-39576951
48	RAD21	chr14:39576605-39577243	A549	lung:	n/a	chr14:39576932-39576951
49	RAD21	chr14:39576780-39577156	ECC-1	luminal epithelium:	n/a	chr14:39576932-39576951
50	RAD21	chr14:39576781-39577102	H1-hESC	embryonic stem cell:	n/a	chr14:39576932-39576951

No.	Distal block	Cell Line	Cell type
1	chr14:39576813..39577373-chr14:39841108..39841759,2	MCF-7	breast:
2	chr14:39572308..39574521-chr14:39576459..39578520,2	MCF-7	breast:
3	chr14:39569997..39574883-chr14:39575393..39578347,7	MCF-7	breast:
4	chr14:39570753..39574803-chr14:39575206..39579488,6	K562	blood:
5	chr14:39579122..39580804-chr14:39643639..39645795,2	MCF-7	breast:
6	chr14:39571044..39574449-chr14:39575206..39581914,9	K562	blood:
7	chr14:39576686..39577197-chr14:39693179..39693779,2	MCF-7	breast:
8	chr14:39576496..39577290-chr14:39837297..39837967,2	K562	blood:
9	chr14:39578856..39580963-chr14:39581859..39584324,3	K562	blood:
10	chr14:39570986..39573343-chr14:39579175..39581108,3	MCF-7	breast:
11	chr14:39576976..39580513-chr14:39638047..39641153,4	K562	blood:
12	chr14:39576445..39577337-chr14:39837299..39838237,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GEMIN2-3	chr14:39577546-39577911	NONHSAT036512
2	lnc-SEC23A-3	chr14:39579098-39579575	NONHSAT036513
3	lnc-SEC23A-3	chr14:39579098-39579575	NONHSAT036514

Variant related genes	Relation type
GEMIN2	TF binding region
ENSG00000258591	TF binding region
SEC23A	TF binding region
ENSG00000100934	chromatin interactions
ENSG00000182400	chromatin interactions
ENSG00000092208	chromatin interactions
ENSG00000258651	chromatin interactions
ENSG00000100941	chromatin interactions
ENSG00000259083	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189633988	chr14:39577059-39577060	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs576886463	chr14:39577157-39577158	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs545225185	chr14:39577180-39577181	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs180970880	chr14:39577250-39577251	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs572592992	chr14:39577263-39577264	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs541743970	chr14:39577303-39577304	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs561597738	chr14:39577326-39577327	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs17108815	chr14:39577348-39577349	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs543855405	chr14:39577377-39577378	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs563606791	chr14:39577394-39577395	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs532640057	chr14:39577406-39577407	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs552042662	chr14:39577409-39577410	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs186504122	chr14:39577416-39577417	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs200626581	chr14:39577451-39577452	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs548058035	chr14:39577483-39577484	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs568047006	chr14:39577491-39577492	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs536615145	chr14:39577492-39577493	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs556938298	chr14:39577517-39577518	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs191375863	chr14:39577529-39577530	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs539510349	chr14:39577551-39577552	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs552839801	chr14:39577555-39577556	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs572657016	chr14:39577637-39577638	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs541682250	chr14:39577653-39577654	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs555269427	chr14:39577691-39577692	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs575235645	chr14:39577696-39577697	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs543408944	chr14:39577709-39577710	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs183294970	chr14:39577810-39577811	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs577206103	chr14:39577823-39577824	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs188223319	chr14:39577843-39577844	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs559617260	chr14:39577890-39577891	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs528254097	chr14:39577902-39577903	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs560325999	chr14:39577941-39577942	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs115423103	chr14:39577945-39577946	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs115907917	chr14:39578004-39578005	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs530723555	chr14:39578035-39578036	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs190689407	chr14:39578070-39578071	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs183272600	chr14:39578073-39578074	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs539091960	chr14:39578093-39578094	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs527581292	chr14:39578100-39578101	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs546661550	chr14:39578130-39578131	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs6571896	chr14:39578134-39578135	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187998854	chr14:39578140-39578141	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs538010455	chr14:39578145-39578146	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs549736046	chr14:39578148-39578149	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs571303267	chr14:39578163-39578164	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs141043678	chr14:39578228-39578229	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs199674850	chr14:39578230-39578231	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs571158591	chr14:39578267-39578268	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs142970632	chr14:39578303-39578304	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs373164629	chr14:39578311-39578312	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39573200-39577800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:39573400-39578800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr14:39573400-39579000	Weak transcription	K562	blood
4	chr14:39573400-39582400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:39573400-39583000	Weak transcription	HSMM	muscle
6	chr14:39573800-39583000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:39573800-39583000	Weak transcription	Thymus	Thymus
8	chr14:39574000-39582400	Weak transcription	A549	lung
9	chr14:39574000-39582800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr14:39574000-39583000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr14:39574000-39583000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:39574000-39583000	Weak transcription	Stomach Mucosa	stomach
13	chr14:39574200-39582400	Weak transcription	Dnd41	blood
14	chr14:39574200-39583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:39574400-39578400	Weak transcription	GM12878-XiMat	blood
16	chr14:39574400-39582400	Weak transcription	Hela-S3	cervix
17	chr14:39574400-39582800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:39576400-39577200	Enhancers	Fetal Intestine Large	intestine
19	chr14:39576400-39578000	Enhancers	HepG2	liver
20	chr14:39576600-39577200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:39576800-39577200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr14:39576800-39577200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr14:39576800-39577600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr14:39577200-39582400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr14:39577200-39582800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr14:39577400-39578000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:39577600-39582800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:39578000-39579000	Weak transcription	HepG2	liver
29	chr14:39578400-39579000	Enhancers	GM12878-XiMat	blood
30	chr14:39578600-39579400	Active TSS	Ovary	ovary
31	chr14:39578600-39579800	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr14:39578800-39579800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr14:39579000-39579200	Active TSS	HepG2	liver
34	chr14:39579000-39579200	Active TSS	K562	blood
35	chr14:39579000-39579400	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr14:39579000-39579600	Active TSS	Duodenum Mucosa	Duodenum
37	chr14:39579000-39579600	Flanking Active TSS	GM12878-XiMat	blood
38	chr14:39579200-39579400	Flanking Active TSS	K562	blood
39	chr14:39579200-39579600	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr14:39579200-39579800	Active TSS	Colonic Mucosa	Colon
41	chr14:39579200-39579800	Enhancers	Placenta	Placenta
42	chr14:39579200-39579800	Active TSS	Pancreas	Pancrea
43	chr14:39579200-39580000	Enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links