Variant report

Variant	nsv457087
Chromosome Location	chr15:34928648-34982384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:554)
CpG islands
(count:0)
Chromatin interactive
region (count:46)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:34949658-34950365	K562	blood:	n/a	n/a
2	ARID3A	chr15:34952157-34952158	K562	blood:	n/a	n/a
3	ARID3A	chr15:34929245-34929276	K562	blood:	n/a	n/a
4	ARID3A	chr15:34944080-34945342	K562	blood:	n/a	n/a
5	ARID3A	chr15:34953056-34953951	K562	blood:	n/a	n/a
6	ARID3A	chr15:34946314-34948129	K562	blood:	n/a	n/a
7	ARID3A	chr15:34948740-34948973	K562	blood:	n/a	n/a
8	ARID3A	chr15:34939172-34940883	K562	blood:	n/a	n/a
9	ARID3A	chr15:34954510-34955719	K562	blood:	n/a	n/a
10	ATF1	chr15:34940100-34940799	K562	blood:	n/a	n/a
11	ATF1	chr15:34936394-34936711	K562	blood:	n/a	n/a
12	ATF1	chr15:34946741-34947211	K562	blood:	n/a	n/a
13	ATF1	chr15:34949656-34950320	K562	blood:	n/a	n/a
14	ATF1	chr15:34947575-34947975	K562	blood:	n/a	n/a
15	ATF1	chr15:34944877-34945255	K562	blood:	n/a	n/a
16	ATF2	chr15:34942319-34942566	GM12878	blood:	n/a	n/a
17	ATF2	chr15:34942304-34942739	GM12878	blood:	n/a	n/a
18	BACH1	chr15:34944497-34944500	K562	blood:	n/a	n/a
19	BACH1	chr15:34949732-34950003	K562	blood:	n/a	n/a
20	BATF	chr15:34942288-34942693	GM12878	blood:	n/a	chr15:34942439-34942449 chr15:34942438-34942449
21	BATF	chr15:34942205-34942724	GM12878	blood:	n/a	chr15:34942439-34942449 chr15:34942438-34942449
22	BCL11A	chr15:34942273-34942696	GM12878	blood:	n/a	n/a
23	BCL11A	chr15:34942342-34942649	GM12878	blood:	n/a	n/a
24	BCLAF1	chr15:34946604-34947084	K562	blood:	n/a	chr15:34946703-34946712
25	BCLAF1	chr15:34949675-34950412	K562	blood:	n/a	n/a
26	BHLHE40	chr15:34942322-34942647	K562	blood:	n/a	n/a
27	BHLHE40	chr15:34957939-34958132	K562	blood:	n/a	n/a
28	BHLHE40	chr15:34944964-34945198	K562	blood:	n/a	n/a
29	BHLHE40	chr15:34952400-34952527	K562	blood:	n/a	n/a
30	BHLHE40	chr15:34949672-34950063	K562	blood:	n/a	n/a
31	BHLHE40	chr15:34947721-34947910	K562	blood:	n/a	n/a
32	BRCA1	chr15:34971598-34971907	Hela-S3	cervix:	n/a	n/a
33	CBX3	chr15:34936200-34936568	K562	blood:	n/a	n/a
34	CBX3	chr15:34982373-34982645	K562	blood:	n/a	n/a
35	CBX3	chr15:34936154-34936713	K562	blood:	n/a	n/a
36	CCNT2	chr15:34946815-34947164	K562	blood:	n/a	n/a
37	CCNT2	chr15:34944905-34945202	K562	blood:	n/a	chr15:34945126-34945135
38	CCNT2	chr15:34949582-34950219	K562	blood:	n/a	n/a
39	CCNT2	chr15:34947583-34947948	K562	blood:	n/a	n/a
40	CEBPB	chr15:34946648-34947780	K562	blood:	n/a	chr15:34947367-34947378 chr15:34947367-34947380
41	CEBPB	chr15:34942355-34942966	IMR90	lung:	n/a	n/a
42	CEBPB	chr15:34947266-34947909	K562	blood:	n/a	chr15:34947367-34947378 chr15:34947367-34947380
43	CEBPB	chr15:34974878-34975174	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr15:34936245-34936728	IMR90	lung:	n/a	n/a
45	CEBPB	chr15:34949909-34950147	K562	blood:	n/a	n/a
46	CEBPB	chr15:34971468-34971933	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr15:34944749-34945151	K562	blood:	n/a	chr15:34944767-34944778
48	CEBPB	chr15:34942504-34942704	K562	blood:	n/a	n/a
49	CEBPB	chr15:34940084-34940856	K562	blood:	n/a	n/a
50	CEBPB	chr15:34936375-34936702	Hela-S3	cervix:	n/a	n/a

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:34931128..34933994-chr15:34934903..34936649,2	K562	blood:
2	chr15:34941429..34944034-chr15:34952465..34954233,2	K562	blood:
3	chr15:34949750..34952665-chr15:35241317..35244101,2	K562	blood:
4	chr15:34927785..34933151-chr15:34934497..34941490,8	K562	blood:
5	chr15:34907702..34910411-chr15:34952455..34954523,2	K562	blood:
6	chr15:34965468..34967744-chr15:34968524..34970610,2	K562	blood:
7	chr15:34934770..34937620-chr15:34950647..34953239,2	K562	blood:
8	chr15:34949722..34952645-chr15:34986997..34989606,2	K562	blood:
9	chr15:34940257..34942550-chr15:34950335..34951889,2	K562	blood:
10	chr15:34960285..34962774-chr15:34963252..34966258,4	K562	blood:
11	chr15:34934770..34937620-chr15:34950647..34953239,2	K562	blood:
12	chr15:34953489..34955951-chr15:35181219..35183157,2	K562	blood:
13	chr15:34963103..34965254-chr15:34966851..34969218,2	MCF-7	breast:
14	chr15:34913307..34914991-chr15:34929235..34931577,2	K562	blood:
15	chr15:34933035..34934548-chr15:34938251..34939915,2	K562	blood:
16	chr15:34946410..34947955-chr15:34948303..34950980,2	K562	blood:
17	chr15:34953069..34954628-chr15:34955083..34957176,2	K562	blood:
18	chr15:34958499..34960200-chr15:34963239..34965401,2	K562	blood:
19	chr15:34933035..34934548-chr15:34938251..34939915,2	K562	blood:
20	chr15:34960754..34962321-chr15:34966390..34968165,2	K562	blood:
21	chr15:34937548..34939695-chr15:34950801..34953012,2	K562	blood:
22	chr15:34958499..34960200-chr15:34963239..34965401,2	K562	blood:
23	chr15:34941344..34943269-chr15:34977002..34979213,2	K562	blood:
24	chr15:34946410..34947955-chr15:34948303..34950980,2	K562	blood:
25	chr15:34953069..34954628-chr15:34955083..34957176,2	K562	blood:
26	chr15:34965188..34969119-chr15:34970987..34974956,6	K562	blood:
27	chr15:34965188..34969119-chr15:34970987..34974956,6	K562	blood:
28	chr15:34931128..34933994-chr15:34934903..34936649,2	K562	blood:
29	chr15:34960754..34962321-chr15:34966390..34968165,2	K562	blood:
30	chr15:34960285..34962774-chr15:34963252..34966258,4	K562	blood:
31	chr15:34962434..34964585-chr15:34966364..34969710,3	K562	blood:
32	chr15:34980841..34982732-chr15:34984201..34987180,2	K562	blood:
33	chr15:34941344..34943269-chr15:34977002..34979213,2	K562	blood:
34	chr15:34962423..34964134-chr15:34966956..34969710,3	K562	blood:
35	chr15:34962423..34964134-chr15:34966956..34969710,3	K562	blood:
36	chr15:34965205..34967093-chr15:34977923..34979811,2	K562	blood:
37	chr15:34927785..34933151-chr15:34934497..34941490,8	K562	blood:
38	chr15:34962434..34964585-chr15:34966364..34969710,3	K562	blood:
39	chr15:34937548..34939695-chr15:34950801..34953012,2	K562	blood:
40	chr15:34934825..34936603-chr15:34945044..34948146,4	K562	blood:
41	chr15:34940257..34942550-chr15:34950335..34951889,2	K562	blood:
42	chr15:34965468..34967744-chr15:34968524..34970610,2	K562	blood:
43	chr15:34963103..34965254-chr15:34966851..34969218,2	MCF-7	breast:
44	chr15:34940940..34942564-chr15:34999108..35001019,2	K562	blood:
45	chr15:34941429..34944034-chr15:34952465..34954233,2	K562	blood:
46	chr15:34965205..34967093-chr15:34977923..34979811,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GOLGA8A-1	chr15:34946499-34946618	ENSG00000261304.1
2	lnc-GOLGA8A-1	chr15:34943885-34943977	ENSG00000261304.1
3	lnc-GOLGA8A-1	chr15:34943936-34946139	ucscGeneNc_uc001zji_1
4	lnc-GOLGA8A-1	chr15:34947820-34947978	XLOC_011421
5	lnc-GOLGA8A-1	chr15:34948237-34948332	ucscGeneNc_uc001zji_1
6	lnc-AC114546.1-12	chr15:34982173-34982277	NONHSAT041602
7	lnc-GJD2-1	chr15:34967556-34967834	XLOC_011422
8	lnc-GOLGA8A-1	chr15:34943336-34943463	ENSG00000261304.1
9	lnc-GOLGA8A-1	chr15:34947820-34947965	ENSG00000261304.1
10	lnc-AC114546.1-13	chr15:34972962-34973170	uc_385_+
11	lnc-GJD2-2	chr15:34972962-34973170	uc_385_-
12	lnc-GOLGA8A-1	chr15:34962302-34962370	XLOC_011421

No data

Variant related genes	Relation type
ENSG00000261304	TF binding region
ENSG00000261304	chromatin interactions
NEK7	miRNA target sites
NEK9	miRNA target sites

Extended variants
information (count: 1900 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1900 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560731393	chr15:34929028-34929029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369519262	chr15:34929035-34929036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548578510	chr15:34929047-34929048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552316188	chr15:34929053-34929054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190733829	chr15:34929059-34929060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373247168	chr15:34929073-34929074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531752710	chr15:34929134-34929135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549817050	chr15:34929156-34929157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568733334	chr15:34929226-34929227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11633375	chr15:34929371-34929372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs183200863	chr15:34929434-34929435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148253138	chr15:34929436-34929437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186044598	chr15:34929437-34929438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190405978	chr15:34929441-34929442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576729862	chr15:34929452-34929453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183072902	chr15:34929475-34929476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140247351	chr15:34929490-34929491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188154928	chr15:34929514-34929515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375916878	chr15:34929570-34929571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146959060	chr15:34929650-34929651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542475126	chr15:34929707-34929708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6495697	chr15:34929751-34929752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs369870198	chr15:34929770-34929771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112140012	chr15:34929805-34929806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192334385	chr15:34929842-34929843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138001362	chr15:34929850-34929851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36089115	chr15:34929883-34929884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564326930	chr15:34929942-34929943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17236946	chr15:34929955-34929956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs572119002	chr15:34929989-34929990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543527481	chr15:34930013-34930014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11636079	chr15:34930059-34930060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs16959267	chr15:34930142-34930143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs200673261	chr15:34930169-34930170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56109926	chr15:34930208-34930209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182645547	chr15:34930259-34930260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566653810	chr15:34930326-34930327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187575255	chr15:34930397-34930398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575929789	chr15:34930417-34930418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552399521	chr15:34930444-34930445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570372020	chr15:34930483-34930484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192699462	chr15:34930508-34930509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113469552	chr15:34930530-34930531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184835878	chr15:34930547-34930548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72710825	chr15:34930568-34930569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535539821	chr15:34930607-34930608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56927262	chr15:34930641-34930642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547261531	chr15:34930683-34930684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61692368	chr15:34930684-34930685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199582970	chr15:34930693-34930694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34929000-34929400	Enhancers	K562	blood
2	chr15:34929400-34931400	Weak transcription	K562	blood
3	chr15:34931400-34932800	Enhancers	K562	blood
4	chr15:34932600-34932800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:34932800-34934400	Weak transcription	K562	blood
6	chr15:34932800-34936200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:34934400-34934600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:34934400-34935200	Enhancers	K562	blood
9	chr15:34934600-34934800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr15:34935200-34935800	Weak transcription	K562	blood
11	chr15:34935800-34937400	ZNF genes & repeats	K562	blood
12	chr15:34936000-34936200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:34936000-34937000	Enhancers	HSMM	muscle
14	chr15:34936200-34936600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:34936200-34936600	Enhancers	HUVEC	blood vessel
16	chr15:34936200-34937200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:34936200-34937200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr15:34936200-34942200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:34936400-34936600	Enhancers	NHLF	lung
20	chr15:34936400-34936800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:34936600-34936800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr15:34936600-34936800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:34936600-34937200	Enhancers	NH-A	brain
24	chr15:34936600-34937600	Enhancers	HSMMtube	muscle
25	chr15:34936600-34942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:34936600-34944200	Weak transcription	HUVEC	blood vessel
27	chr15:34936800-34940600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:34937000-34942200	Weak transcription	HSMM	muscle
29	chr15:34937200-34941400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr15:34937200-34942000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:34937200-34942200	Weak transcription	NH-A	brain
32	chr15:34937400-34938000	Weak transcription	K562	blood
33	chr15:34937600-34941800	Weak transcription	HSMMtube	muscle
34	chr15:34938000-34938800	Flanking Active TSS	K562	blood
35	chr15:34938800-34939000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr15:34938800-34939200	Active TSS	K562	blood
37	chr15:34939200-34940400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:34939200-34941000	Flanking Active TSS	K562	blood
39	chr15:34940200-34940400	Enhancers	Aorta	Aorta
40	chr15:34940400-34941000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr15:34940400-34941000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr15:34940400-34941200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr15:34940600-34941000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr15:34941000-34944600	Enhancers	K562	blood
45	chr15:34941200-34941400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:34941200-34949200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:34941400-34942200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:34941400-34942800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr15:34941800-34943400	Enhancers	HSMMtube	muscle
50	chr15:34942000-34943000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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