Variant report

Variant	esv3354434
Chromosome Location	chr1:45269765-45274063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:723)
CpG islands
(count:673)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:723 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:45272798-45274164	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:45273063-45273889	K562	blood:	n/a	n/a
3	ATF1	chr1:45272896-45273773	K562	blood:	n/a	n/a
4	ATF2	chr1:45272775-45273361	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:45272969-45274105	GM12878	blood:	n/a	n/a
6	ATF2	chr1:45272786-45273908	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:45272773-45274170	GM12878	blood:	n/a	n/a
8	ATF3	chr1:45272890-45273792	K562	blood:	n/a	n/a
9	ATF3	chr1:45272744-45273678	K562	blood:	n/a	n/a
10	ATF3	chr1:45272821-45273765	A549	lung:	n/a	n/a
11	BACH1	chr1:45273048-45273906	H1-hESC	embryonic stem cell:	n/a	chr1:45273215-45273229
12	BCL3	chr1:45273339-45274147	GM12878	blood:	n/a	chr1:45273923-45273932 chr1:45273924-45273933 chr1:45273904-45273913
13	BCL3	chr1:45272933-45273322	GM12878	blood:	n/a	chr1:45273048-45273061
14	BCL3	chr1:45272781-45274173	A549	lung:	n/a	chr1:45273923-45273932 chr1:45273924-45273933 chr1:45272888-45272897 chr1:45273048-45273061 chr1:45273904-45273913 chr1:45272889-45272898
15	BCL3	chr1:45272791-45274178	A549	lung:	n/a	chr1:45273923-45273932 chr1:45273924-45273933 chr1:45272888-45272897 chr1:45273048-45273061 chr1:45273904-45273913 chr1:45272889-45272898
16	BCLAF1	chr1:45273336-45274020	GM12878	blood:	n/a	chr1:45273923-45273932 chr1:45273924-45273933 chr1:45273904-45273913
17	BCLAF1	chr1:45272734-45273980	K562	blood:	n/a	chr1:45273923-45273932 chr1:45273924-45273933 chr1:45272888-45272897 chr1:45273048-45273061 chr1:45273904-45273913 chr1:45272889-45272898
18	BCLAF1	chr1:45272795-45274104	GM12878	blood:	n/a	chr1:45273923-45273932 chr1:45273924-45273933 chr1:45272888-45272897 chr1:45273048-45273061 chr1:45273904-45273913 chr1:45272889-45272898
19	BHLHE40	chr1:45272808-45274092	GM12878	blood:	n/a	chr1:45273544-45273560
20	BHLHE40	chr1:45272808-45274256	HepG2	liver:	n/a	chr1:45274208-45274224 chr1:45273544-45273560 chr1:45274214-45274230 chr1:45274206-45274222
21	BHLHE40	chr1:45272796-45274837	K562	blood:	n/a	chr1:45274208-45274224 chr1:45273544-45273560 chr1:45274214-45274230 chr1:45274206-45274222
22	BRCA1	chr1:45272866-45273786	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr1:45272712-45273736	HepG2	liver:	n/a	n/a
24	BRCA1	chr1:45272961-45273574	GM12878	blood:	n/a	n/a
25	BRCA1	chr1:45273989-45274189	HepG2	liver:	n/a	n/a
26	CBX3	chr1:45272391-45274506	K562	blood:	n/a	n/a
27	CBX3	chr1:45272882-45273864	K562	blood:	n/a	n/a
28	CCNT2	chr1:45272956-45273806	K562	blood:	n/a	chr1:45273605-45273614
29	CCNT2	chr1:45271726-45272332	K562	blood:	n/a	n/a
30	CEBPB	chr1:45272994-45273689	A549	lung:	n/a	n/a
31	CEBPB	chr1:45272850-45273857	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr1:45272904-45273821	K562	blood:	n/a	n/a
33	CEBPB	chr1:45272838-45273885	IMR90	lung:	n/a	n/a
34	CEBPB	chr1:45272673-45274106	GM12878	blood:	n/a	n/a
35	CEBPB	chr1:45272901-45273839	A549	lung:	n/a	n/a
36	CEBPB	chr1:45273000-45273617	K562	blood:	n/a	n/a
37	CEBPB	chr1:45272941-45273635	HepG2	liver:	n/a	n/a
38	CEBPD	chr1:45272950-45273739	HepG2	liver:	n/a	n/a
39	CEBPD	chr1:45272920-45273922	K562	blood:	n/a	n/a
40	CHD1	chr1:45273019-45274057	GM12878	blood:	n/a	n/a
41	CHD2	chr1:45272742-45273898	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr1:45272951-45273744	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr1:45272712-45274017	HepG2	liver:	n/a	n/a
44	CHD2	chr1:45272864-45274305	GM12878	blood:	n/a	n/a
45	CHD2	chr1:45272968-45274111	K562	blood:	n/a	n/a
46	CREB1	chr1:45273355-45273683	A549	lung:	n/a	n/a
47	CREB1	chr1:45272895-45273770	A549	lung:	n/a	n/a
48	CTBP2	chr1:45272637-45274583	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr1:45271525-45271592	K562	blood:	n/a	n/a
50	CTCF	chr1:45271904-45272038	H1-hESC	embryonic stem cell:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:45273495-45273545	HCM	heart:	n/a
2	chr1:45273545-45273595	AG09319	gingival:	n/a
3	chr1:45273495-45273545	HCM	heart:	n/a
4	chr1:45273545-45273595	AG09319	gingival:	n/a
5	chr1:45270421-45270471	ProgFib	skin:	n/a
6	chr1:45273680-45273730	HMEC	breast:	n/a
7	chr1:45272255-45272305	SK-N-SH	brain:	n/a
8	chr1:45272255-45272305	CMK	blood:	n/a
9	chr1:45273495-45273545	HAEpiC	amniotic membrane:	n/a
10	chr1:45271680-45271730	HIPEpiC	eye:	n/a
11	chr1:45274048-45274098	T-47D	breast:	n/a
12	chr1:45273495-45273545	K562	blood:	n/a
13	chr1:45273545-45273595	LNCaP	prostate:	n/a
14	chr1:45273495-45273545	Jurkat	blood:	n/a
15	chr1:45272255-45272305	SAEC	small airway:	n/a
16	chr1:45272637-45272687	AoSMC	blood vessel:	n/a
17	chr1:45272633-45272683	NT2-D1	testis:	n/a
18	chr1:45270421-45270471	HRCEpiC	kidney:	n/a
19	chr1:45270421-45270471	MCF10A-Er-Src	breast:	n/a
20	chr1:45271752-45271802	IMR90	lung:	fetal
21	chr1:45272255-45272305	RPTEC	kidney:	n/a
22	chr1:45273495-45273545	HRPEpiC	eye:	n/a
23	chr1:45271752-45271802	U87	brain:	n/a
24	chr1:45272255-45272305	H1-hESC	embryonic stem cell:	embryo
25	chr1:45271752-45271802	RPTEC	kidney:	n/a
26	chr1:45272637-45272687	Hela-S3	cervix:	n/a
27	chr1:45271752-45271802	HCM	heart:	n/a
28	chr1:45273545-45273595	NHBE	bronchial:	n/a
29	chr1:45273680-45273730	H1-hESC	embryonic stem cell:	embryo
30	chr1:45273680-45273730	K562	blood:	n/a
31	chr1:45272261-45272311	NT2-D1	testis:	n/a
32	chr1:45271752-45271802	HCT-116	colon:	n/a
33	chr1:45272633-45272683	HAEpiC	amniotic membrane:	n/a
34	chr1:45272255-45272305	HCPEpiC	choroid plexus:	n/a
35	chr1:45271680-45271730	LNCaP	prostate:	n/a
36	chr1:45273545-45273595	GM12878	blood:	n/a
37	chr1:45273680-45273730	IMR90	lung:	fetal
38	chr1:45273545-45273595	HL-60	blood:	n/a
39	chr1:45274048-45274098	HEK293	kidney:	embryo
40	chr1:45270421-45270471	Jurkat	blood:	n/a
41	chr1:45272261-45272311	ovcar-3	ovarian:	n/a
42	chr1:45273495-45273545	GM12878	blood:	n/a
43	chr1:45272261-45272311	HEEpiC	esophagus:	n/a
44	chr1:45272633-45272683	Hepatocyte	liver:	n/a
45	chr1:45271752-45271802	CMK	blood:	n/a
46	chr1:45272637-45272687	HRPEpiC	eye:	n/a
47	chr1:45271752-45271802	HAEpiC	amniotic membrane:	n/a
48	chr1:45273545-45273595	HCT-116	colon:	n/a
49	chr1:45273495-45273545	GM06990	blood:	n/a
50	chr1:45274048-45274098	RPTEC	kidney:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45272804..45273405-chr19:39897695..39898336,2	Hela-S3	cervix:
2	chr1:45194189..45198394-chr1:45270401..45277394,13	MCF-7	breast:
3	chr1:45269727..45273120-chr1:45475175..45479286,6	K562	blood:
4	chr1:45272934..45277358-chr1:45964626..45967668,4	K562	blood:
5	chr1:45269464..45270109-chr15:65596747..65597319,2	Hela-S3	cervix:
6	chr1:45273605..45276582-chr1:45986789..45988627,2	K562	blood:
7	chr1:45240969..45242475-chr1:45269379..45271647,2	MCF-7	breast:
8	chr1:45271675..45274360-chr1:46048607..46050864,2	K562	blood:
9	chr1:45273315..45275597-chr1:45475668..45479411,4	K562	blood:
10	chr1:45273964..45275771-chr1:45451640..45453619,2	K562	blood:
11	chr1:45273104..45274002-chr10:74114318..74114867,2	Hela-S3	cervix:
12	chr1:45272218..45273207-chr12:109124644..109125507,2	Hela-S3	cervix:
13	chr1:45271619..45273419-chr1:46014827..46017277,2	K562	blood:
14	chr1:45248400..45253844-chr1:45268438..45273783,8	MCF-7	breast:
15	chr1:45270955..45271946-chr17:58041780..58042468,2	Hela-S3	cervix:
16	chr1:45186115..45188704-chr1:45270219..45273209,3	MCF-7	breast:
17	chr1:45185720..45187658-chr1:45273782..45275923,3	MCF-7	breast:
18	chr1:19534198..19536846-chr1:45271936..45273759,2	K562	blood:
19	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
20	chr1:45272569..45273134-chr2:8818787..8819623,2	Hela-S3	cervix:
21	chr1:45268954..45275189-chr1:45475024..45480055,7	K562	blood:
22	chr1:45273175..45273962-chr5:180229025..180229957,2	Hela-S3	cervix:
23	chr1:45271934..45274901-chr1:46048607..46050252,3	K562	blood:
24	chr1:45273529..45274080-chr11:64007889..64008593,2	Hela-S3	cervix:
25	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
26	chr1:2158623..2159165-chr1:45273083..45273727,2	Hela-S3	cervix:
27	chr1:45239942..45244585-chr1:45273690..45277023,5	MCF-7	breast:
28	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
29	chr1:45184399..45189674-chr1:45270870..45279135,15	MCF-7	breast:
30	chr1:45271433..45273539-chr1:45450490..45453055,2	K562	blood:
31	chr1:45190324..45200952-chr1:45272085..45288310,59	MCF-7	breast:
32	chr1:45272160..45275293-chr1:45804757..45807253,3	K562	blood:

No data

Variant related genes	Relation type
BTBD19	TF binding region
TCTEX1D4	TF binding region
PLK3	TF binding region
BTBD19	CpG island
TCTEX1D4	CpG island
PLK3	CpG island
ENSG00000131446	chromatin interactions
ENSG00000070785	chromatin interactions
ENSG00000126107	chromatin interactions
ENSG00000200913	chromatin interactions
ENSG00000264294	chromatin interactions
ENSG00000132763	chromatin interactions
ENSG00000235092	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000142959	chromatin interactions
ENSG00000117450	chromatin interactions
ENSG00000236624	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000198520	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000142945	chromatin interactions
ENSG00000117448	chromatin interactions
ENSG00000234093	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000127481	chromatin interactions
ENSG00000202031	chromatin interactions
ENSG00000126088	chromatin interactions
ENSG00000115738	chromatin interactions
ENSG00000132780	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000132781	chromatin interactions
ENSG00000267302	chromatin interactions
ENSG00000110880	chromatin interactions
ENSG00000132773	chromatin interactions
ENSG00000189050	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000207421	chromatin interactions

Extended variants
information (count: 224 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184655322	chr1:45269770-45269771	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
2	rs568756314	chr1:45269773-45269774	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs376147992	chr1:45269804-45269805	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs1804641	chr1:45269844-45269845	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs367763271	chr1:45269848-45269849	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs140688332	chr1:45269876-45269877	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs575447933	chr1:45269896-45269897	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs371226206	chr1:45269930-45269931	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs377155472	chr1:45269935-45269936	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs200752136	chr1:45269970-45269971	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs538403416	chr1:45269973-45269974	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs138312429	chr1:45270011-45270012	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs11211036	chr1:45270024-45270025	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs201492855	chr1:45270025-45270026	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs202241709	chr1:45270031-45270032	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs534449945	chr1:45270039-45270040	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs554530342	chr1:45270048-45270049	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs569648619	chr1:45270052-45270053	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs577481310	chr1:45270083-45270084	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs374959640	chr1:45270090-45270091	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs201237567	chr1:45270091-45270092	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs369110613	chr1:45270111-45270112	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs17884653	chr1:45270115-45270116	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs143263520	chr1:45270117-45270118	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs200234281	chr1:45270118-45270119	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs143522847	chr1:45270119-45270120	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs150620830	chr1:45270138-45270139	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs17855444	chr1:45270139-45270140	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs562966633	chr1:45270156-45270157	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs17880829	chr1:45270161-45270162	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs376386776	chr1:45270162-45270163	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs373520658	chr1:45270181-45270182	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs377444562	chr1:45270183-45270184	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs369061089	chr1:45270203-45270204	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs545210668	chr1:45270230-45270231	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs565240411	chr1:45270296-45270297	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs201385830	chr1:45270315-45270316	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs373034569	chr1:45270367-45270368	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs143496031	chr1:45270377-45270378	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs139294226	chr1:45270383-45270384	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs200960803	chr1:45270412-45270413	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs377380771	chr1:45270422-45270423	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs370806330	chr1:45270454-45270455	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs375165981	chr1:45270463-45270464	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs376810502	chr1:45270469-45270470	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs375220499	chr1:45270472-45270473	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs529969877	chr1:45270505-45270506	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs17881427	chr1:45270515-45270516	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs569792806	chr1:45270544-45270545	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs17880363	chr1:45270560-45270561	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

Chromatin state (count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45265600-45276600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:45266200-45270400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:45266600-45276400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:45266800-45272600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:45267200-45269800	Transcr. at gene 5' and 3'	NHEK	skin
6	chr1:45267200-45270200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:45267200-45270400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
8	chr1:45267400-45272800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
9	chr1:45267600-45269800	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr1:45267600-45269800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:45267600-45269800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:45267600-45269800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:45267600-45269800	Transcr. at gene 5' and 3'	HSMM	muscle
14	chr1:45267600-45270200	Transcr. at gene 5' and 3'	Esophagus	oesophagus
15	chr1:45267600-45270400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:45267600-45272800	Genic enhancers	Spleen	Spleen
17	chr1:45267800-45272000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:45268000-45269800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:45268000-45272400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:45268200-45269800	Enhancers	Fetal Brain Male	brain
21	chr1:45268200-45269800	Genic enhancers	Left Ventricle	heart
22	chr1:45268200-45270000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:45268200-45270000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr1:45268200-45271800	Weak transcription	Fetal Heart	heart
25	chr1:45268200-45271800	Weak transcription	Psoas Muscle	Psoas
26	chr1:45268200-45272200	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr1:45268200-45272200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:45268200-45272400	Genic enhancers	Pancreas	Pancrea
29	chr1:45268200-45272400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:45268200-45272400	Genic enhancers	Stomach Smooth Muscle	stomach
31	chr1:45268200-45272600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:45268200-45272600	Genic enhancers	Lung	lung
33	chr1:45268200-45274200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:45268400-45269800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:45268400-45269800	Genic enhancers	Duodenum Mucosa	Duodenum
36	chr1:45268400-45269800	Genic enhancers	Fetal Thymus	thymus
37	chr1:45268400-45270200	Genic enhancers	Brain Cingulate Gyrus	brain
38	chr1:45268400-45270400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr1:45268400-45270600	Strong transcription	Fetal Lung	lung
40	chr1:45268400-45271600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:45268400-45271800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:45268400-45271800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:45268400-45271800	Strong transcription	Aorta	Aorta
44	chr1:45268400-45271800	Strong transcription	Ovary	ovary
45	chr1:45268400-45271800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:45268400-45271800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:45268400-45272400	Strong transcription	Fetal Stomach	stomach
48	chr1:45268400-45272600	Genic enhancers	Right Ventricle	heart
49	chr1:45268400-45272800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:45268400-45272800	Genic enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links