Variant report

Variant	nsv546147
Chromosome Location	chr1:45264874-45271097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1003)
CpG islands
(count:855)
Chromatin interactive
region (count:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1003 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:45265448-45266119	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:45265424-45266087	K562	blood:	n/a	n/a
3	ATF2	chr1:45265400-45265944	GM12878	blood:	n/a	n/a
4	ATF2	chr1:45265272-45266054	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:45265276-45266222	GM12878	blood:	n/a	n/a
6	ATF2	chr1:45265212-45266007	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr1:45265365-45266141	K562	blood:	n/a	chr1:45265859-45265868
8	ATF3	chr1:45265633-45265945	K562	blood:	n/a	chr1:45265859-45265868
9	BACH1	chr1:45264798-45264879	K562	blood:	n/a	n/a
10	BACH1	chr1:45265331-45265697	K562	blood:	n/a	n/a
11	BACH1	chr1:45265409-45265858	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr1:45265610-45266085	A549	lung:	n/a	chr1:45265618-45265627
13	BCL3	chr1:45265318-45265647	A549	lung:	n/a	chr1:45265618-45265627
14	BCLAF1	chr1:45265358-45266202	K562	blood:	n/a	chr1:45265618-45265627
15	BCLAF1	chr1:45265253-45266331	K562	blood:	n/a	chr1:45265618-45265627
16	BCLAF1	chr1:45265261-45266229	GM12878	blood:	n/a	chr1:45265618-45265627
17	BHLHE40	chr1:45265310-45266521	K562	blood:	n/a	chr1:45265621-45265637
18	BHLHE40	chr1:45267549-45268042	K562	blood:	n/a	n/a
19	BHLHE40	chr1:45265333-45266392	GM12878	blood:	n/a	chr1:45265621-45265637
20	BHLHE40	chr1:45265378-45266223	HepG2	liver:	n/a	chr1:45265621-45265637
21	BRCA1	chr1:45265380-45266251	HepG2	liver:	n/a	n/a
22	BRCA1	chr1:45266642-45266792	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr1:45265342-45266162	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr1:45265428-45265830	GM12878	blood:	n/a	n/a
25	CBX3	chr1:45265355-45265658	K562	blood:	n/a	n/a
26	CBX3	chr1:45267503-45268318	K562	blood:	n/a	n/a
27	CBX3	chr1:45265268-45266255	K562	blood:	n/a	n/a
28	CCNT2	chr1:45265381-45266646	K562	blood:	n/a	n/a
29	CCNT2	chr1:45269393-45269495	K562	blood:	n/a	n/a
30	CEBPB	chr1:45265750-45266004	HepG2	liver:	n/a	n/a
31	CEBPB	chr1:45265457-45266209	HepG2	liver:	n/a	n/a
32	CEBPB	chr1:45265441-45266114	IMR90	lung:	n/a	n/a
33	CEBPB	chr1:45269501-45269572	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr1:45265509-45266090	HepG2	liver:	n/a	n/a
35	CEBPB	chr1:45265682-45266112	MCF-7	breast:	n/a	n/a
36	CEBPB	chr1:45265285-45266148	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr1:45267353-45267692	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr1:45265319-45266127	K562	blood:	n/a	n/a
39	CEBPB	chr1:45265404-45265538	HepG2	liver:	n/a	n/a
40	CEBPB	chr1:45265569-45266139	A549	lung:	n/a	n/a
41	CEBPB	chr1:45265342-45266224	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr1:45265417-45266064	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr1:45267515-45267524	A549	lung:	n/a	n/a
44	CEBPB	chr1:45265336-45265906	GM12878	blood:	n/a	n/a
45	CEBPB	chr1:45265612-45266271	K562	blood:	n/a	n/a
46	CEBPB	chr1:45265668-45266093	A549	lung:	n/a	n/a
47	CEBPB	chr1:45265774-45265971	K562	blood:	n/a	n/a
48	CEBPD	chr1:45265661-45266168	HepG2	liver:	n/a	n/a
49	CEBPD	chr1:45265401-45266285	K562	blood:	n/a	n/a
50	CEBPD	chr1:45265448-45266177	HepG2	liver:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:45266048-45266098	HAEpiC	amniotic membrane:	n/a
2	chr1:45266048-45266098	HAEpiC	amniotic membrane:	n/a
3	chr1:45266447-45266497	NT2-D1	testis:	n/a
4	chr1:45266447-45266497	AoSMC	blood vessel:	n/a
5	chr1:45265703-45265753	K562	blood:	n/a
6	chr1:45265337-45265387	RPTEC	kidney:	n/a
7	chr1:45265955-45266005	HAEpiC	amniotic membrane:	n/a
8	chr1:45266048-45266098	SAEC	small airway:	n/a
9	chr1:45265337-45265387	HAEpiC	amniotic membrane:	n/a
10	chr1:45265309-45265359	ovcar-3	ovarian:	n/a
11	chr1:45265622-45265672	HNPCEpiC	eye:	n/a
12	chr1:45265309-45265359	AG04450	lung:	fetal
13	chr1:45265678-45265728	HCF	heart:	n/a
14	chr1:45266782-45266832	HRPEpiC	eye:	n/a
15	chr1:45265955-45266005	AG09309	skin:	n/a
16	chr1:45266447-45266497	GM12892	blood:	n/a
17	chr1:45267345-45267395	SK-N-MC	brain:	n/a
18	chr1:45265337-45265387	AG04449	skin:	fetal
19	chr1:45265955-45266005	H1-hESC	embryonic stem cell:	embryo
20	chr1:45265950-45266000	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:45265337-45265387	BJ	skin:	n/a
22	chr1:45265622-45265672	GM06990	blood:	n/a
23	chr1:45268975-45269025	PFSK-1	brain:	n/a
24	chr1:45268975-45269025	Hepatocyte	liver:	n/a
25	chr1:45265337-45265387	AG09319	gingival:	n/a
26	chr1:45265337-45265387	HMEC	breast:	n/a
27	chr1:45265678-45265728	AoSMC	blood vessel:	n/a
28	chr1:45266048-45266098	GM06990	blood:	n/a
29	chr1:45265678-45265728	BJ	skin:	n/a
30	chr1:45267345-45267395	AG04450	lung:	fetal
31	chr1:45265309-45265359	ECC-1	luminal epithelium:	n/a
32	chr1:45265337-45265387	HNPCEpiC	eye:	n/a
33	chr1:45266782-45266832	LNCaP	prostate:	n/a
34	chr1:45265703-45265753	MCF-7	breast:	n/a
35	chr1:45266048-45266098	H1-hESC	embryonic stem cell:	embryo
36	chr1:45268975-45269025	ProgFib	skin:	n/a
37	chr1:45267345-45267395	HCT-116	colon:	n/a
38	chr1:45267345-45267395	BE2_C	brain:	n/a
39	chr1:45265950-45266000	LNCaP	prostate:	n/a
40	chr1:45266286-45266336	ovcar-3	ovarian:	n/a
41	chr1:45266048-45266098	HL-60	blood:	n/a
42	chr1:45266447-45266497	AG04450	lung:	fetal
43	chr1:45265703-45265753	NT2-D1	testis:	n/a
44	chr1:45270421-45270471	ovcar-3	ovarian:	n/a
45	chr1:45265950-45266000	H1-hESC	embryonic stem cell:	embryo
46	chr1:45268975-45269025	HepG2	liver:	n/a
47	chr1:45265622-45265672	HCF	heart:	n/a
48	chr1:45265950-45266000	HRCEpiC	kidney:	n/a
49	chr1:45266447-45266497	K562	blood:	n/a
50	chr1:45265955-45266005	AG09319	gingival:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:45264279..45267905-chr1:45476139..45480748,9	K562	blood:
2	chr1:45264684..45267553-chr1:45478723..45482931,4	MCF-7	breast:
3	chr1:45265584..45266413-chr19:2475648..2476435,2	Hela-S3	cervix:
4	chr1:45265981..45266505-chr1:45284999..45285671,2	MCF-7	breast:
5	chr1:45186900..45187762-chr1:45265179..45266129,2	HCT-116	colon:
6	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
7	chr1:45269464..45270109-chr15:65596747..65597319,2	Hela-S3	cervix:
8	chr1:45266044..45266571-chr17:41465740..41466610,2	Hela-S3	cervix:
9	chr1:45266069..45266767-chr5:151150725..151151366,2	HCT-116	colon:
10	chr1:45264331..45266422-chr1:46049131..46050804,3	K562	blood:
11	chr1:45265198..45265799-chr1:45280406..45281268,2	MCF-7	breast:
12	chr1:45240969..45242475-chr1:45269379..45271647,2	MCF-7	breast:
13	chr1:45265336..45266309-chr6:30711836..30712356,2	Hela-S3	cervix:
14	chr1:45264355..45267553-chr1:45476139..45481796,8	K562	blood:
15	chr1:45265655..45266334-chr5:36242016..36242588,2	Hela-S3	cervix:
16	chr1:45265774..45266362-chr16:14726177..14727160,2	NB4	blood:
17	chr1:45265136..45265830-chr1:45301261..45301917,2	K562	blood:
18	chr1:45265570..45266360-chr8:144623434..144624245,2	Hela-S3	cervix:
19	chr1:45265377..45266088-chr5:172754663..172755525,2	Hela-S3	cervix:
20	chr1:45240022..45242639-chr1:45267540..45269350,2	MCF-7	breast:
21	chr1:45265421..45266018-chrX:48815336..48816261,2	Hela-S3	cervix:
22	chr1:45265565..45266510-chr15:34394011..34394570,2	Hela-S3	cervix:
23	chr1:45265977..45266790-chr15:50715807..50716660,2	NB4	blood:
24	chr1:45265800..45266493-chr17:80415987..80416840,2	HCT-116	colon:
25	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
26	chr1:45265177..45266001-chr17:57915257..57916253,2	HCT-116	colon:
27	chr1:45210802..45212965-chr1:45265931..45268698,2	K562	blood:
28	chr1:45239518..45243020-chr1:45264375..45267077,6	MCF-7	breast:
29	chr1:45239609..45242950-chr1:45264036..45267552,6	MCF-7	breast:
30	chr1:45268954..45275189-chr1:45475024..45480055,7	K562	blood:
31	chr1:45194189..45198394-chr1:45270401..45277394,13	MCF-7	breast:
32	chr1:45248400..45253844-chr1:45268438..45273783,8	MCF-7	breast:
33	chr1:45194156..45199355-chr1:45264282..45268731,9	MCF-7	breast:
34	chr1:45184399..45189674-chr1:45270870..45279135,15	MCF-7	breast:
35	chr1:45096184..45099066-chr1:45264568..45266380,3	K562	blood:
36	chr1:45265243..45265912-chr11:62609117..62609617,2	HCT-116	colon:
37	chr1:45138566..45141370-chr1:45265919..45267652,2	K562	blood:
38	chr1:11967954..11968956-chr1:45265688..45266550,3	HCT-116	colon:
39	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
40	chr1:45194731..45198369-chr1:45262951..45267593,8	MCF-7	breast:
41	chr1:45187283..45187917-chr1:45265572..45266144,2	Hela-S3	cervix:
42	chr1:45248852..45254229-chr1:45263166..45267959,10	MCF-7	breast:
43	chr1:45265814..45266510-chr22:43011068..43011923,2	Hela-S3	cervix:
44	chr1:45186115..45188704-chr1:45270219..45273209,3	MCF-7	breast:
45	chr1:45269727..45273120-chr1:45475175..45479286,6	K562	blood:
46	chr1:45270955..45271946-chr17:58041780..58042468,2	Hela-S3	cervix:
47	chr1:45205245..45207359-chr1:45265556..45268016,2	MCF-7	breast:
48	chr1:45262923..45267744-chr1:45767225..45772183,8	K562	blood:
49	chr1:45264331..45265874-chr1:46048752..46050631,2	K562	blood:
50	chr1:45181918..45183928-chr1:45263993..45265560,2	MCF-7	breast:

No data

Variant related genes	Relation type
BTBD19	TF binding region
PLK3	TF binding region
BTBD19	CpG island
PLK3	CpG island
ENSG00000134153	chromatin interactions
ENSG00000141562	chromatin interactions
ENSG00000207421	chromatin interactions
ENSG00000162415	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000126088	chromatin interactions
ENSG00000126107	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000140694	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000267302	chromatin interactions
ENSG00000142959	chromatin interactions
ENSG00000132780	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000103429	chromatin interactions
ENSG00000068308	chromatin interactions
ENSG00000264294	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000142945	chromatin interactions
ENSG00000236624	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000152620	chromatin interactions
ENSG00000187147	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000189050	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000200913	chromatin interactions
ENSG00000132763	chromatin interactions
ENSG00000113739	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000198520	chromatin interactions
ENSG00000138592	chromatin interactions
ENSG00000202031	chromatin interactions
ENSG00000182405	chromatin interactions
ENSG00000265458	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000014164	chromatin interactions
ENSG00000126106	chromatin interactions
ENSG00000234093	chromatin interactions

Extended variants
information (count: 318 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17883342	chr1:45264874-45264875	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
2	rs191177549	chr1:45264948-45264949	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
3	rs572591209	chr1:45264972-45264973	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
4	rs541470495	chr1:45264979-45264980	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
5	rs146560248	chr1:45264991-45264992	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
6	rs574460224	chr1:45265005-45265006	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs531633951	chr1:45265034-45265035	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs548430797	chr1:45265055-45265056	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs113711763	chr1:45265068-45265069	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs543399299	chr1:45265076-45265077	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs182601052	chr1:45265082-45265083	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs532433890	chr1:45265157-45265158	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs552230435	chr1:45265191-45265192	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
14	rs559457190	chr1:45265210-45265211	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs150531729	chr1:45265225-45265226	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs201809150	chr1:45265240-45265241	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs143617130	chr1:45265244-45265245	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
18	rs568031699	chr1:45265254-45265255	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
19	rs568176302	chr1:45265310-45265311	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
20	rs537175326	chr1:45265313-45265314	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
21	rs550570327	chr1:45265329-45265330	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
22	rs570397255	chr1:45265355-45265356	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
23	rs539308206	chr1:45265487-45265488	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
24	rs375874888	chr1:45265507-45265508	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
25	rs17883093	chr1:45265529-45265530	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566237514	chr1:45265560-45265561	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
27	rs534924967	chr1:45265565-45265566	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
28	rs554778998	chr1:45265566-45265567	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
29	rs574571055	chr1:45265568-45265569	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
30	rs371079174	chr1:45265571-45265572	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
31	rs17881834	chr1:45265583-45265584	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
32	rs17880745	chr1:45265598-45265599	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556929404	chr1:45265625-45265626	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
34	rs577178181	chr1:45265629-45265630	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
35	rs17881357	chr1:45265638-45265639	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
36	rs559408927	chr1:45265701-45265702	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
37	rs527438022	chr1:45265736-45265737	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
38	rs17880278	chr1:45265749-45265750	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
39	rs542029859	chr1:45265810-45265811	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
40	rs370583904	chr1:45265818-45265819	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
41	rs561889937	chr1:45265858-45265859	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
42	rs35067440	chr1:45265897-45265898	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
43	rs530616231	chr1:45265903-45265904	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
44	rs17886324	chr1:45265957-45265958	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	36 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570385227	chr1:45265963-45265964	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
46	rs532813523	chr1:45266016-45266017	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
47	rs547237171	chr1:45266020-45266021	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
48	rs373215065	chr1:45266021-45266022	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
49	rs552804138	chr1:45266095-45266096	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
50	rs566229457	chr1:45266173-45266174	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:830 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45252400-45265200	Weak transcription	Right Atrium	heart
2	chr1:45252400-45265600	Weak transcription	Gastric	stomach
3	chr1:45256000-45265200	Weak transcription	NHEK	skin
4	chr1:45259200-45265400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:45259200-45265600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:45259400-45265200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:45259400-45265200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:45259400-45265400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:45259600-45265200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:45259600-45265200	Weak transcription	Osteobl	bone
11	chr1:45259800-45265200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:45261200-45265000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:45262600-45265000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:45264000-45265200	Enhancers	HepG2	liver
15	chr1:45264200-45265000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:45264200-45265000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:45264200-45265200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:45264200-45265200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:45264200-45265200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:45264200-45265200	Enhancers	HMEC	breast
21	chr1:45264200-45265400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:45264200-45265600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:45264200-45265600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:45264400-45265200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:45264400-45265200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:45264400-45265200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:45264400-45265200	Enhancers	A549	lung
28	chr1:45264400-45265200	Enhancers	Dnd41	blood
29	chr1:45264400-45265400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:45264400-45265400	Enhancers	Primary B cells from peripheral blood	blood
31	chr1:45264400-45265400	Enhancers	Liver	Liver
32	chr1:45264600-45265000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:45264600-45265200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:45264600-45265200	Enhancers	Primary B cells from cord blood	blood
35	chr1:45264600-45265200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr1:45264600-45265200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr1:45264600-45265200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr1:45264600-45265200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:45264600-45265200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr1:45264600-45265200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:45264600-45265200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:45264600-45265200	Enhancers	Fetal Intestine Large	intestine
43	chr1:45264600-45265200	Enhancers	Fetal Intestine Small	intestine
44	chr1:45264600-45265200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:45264600-45265200	Enhancers	Pancreas	Pancrea
46	chr1:45264600-45265200	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr1:45264600-45265200	Enhancers	Hela-S3	cervix
48	chr1:45264600-45265200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:45264600-45265400	Enhancers	NH-A	brain
50	chr1:45264600-45265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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