Variant report

Variant	esv3342398
Chromosome Location	chr17:45770478-45773326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:335)
CpG islands
(count:610)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:45771813-45771981	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr17:45772402-45772927	H1-hESC	embryonic stem cell:	n/a	chr17:45772677-45772691
3	BACH1	chr17:45771106-45771195	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr17:45772464-45772829	GM12878	blood:	n/a	chr17:45772681-45772691 chr17:45772680-45772691
5	BHLHE40	chr17:45772262-45772643	HepG2	liver:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
6	BHLHE40	chr17:45771791-45772796	GM12878	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
7	BHLHE40	chr17:45772247-45773034	K562	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
8	CCNT2	chr17:45771717-45771887	K562	blood:	n/a	chr17:45771773-45771782 chr17:45771853-45771862 chr17:45771820-45771829
9	CCNT2	chr17:45772317-45772598	K562	blood:	n/a	n/a
10	CCNT2	chr17:45771048-45771338	K562	blood:	n/a	n/a
11	CEBPD	chr17:45771618-45772036	HepG2	liver:	n/a	n/a
12	CHD2	chr17:45771673-45771837	K562	blood:	n/a	n/a
13	CHD2	chr17:45770955-45771157	GM12878	blood:	n/a	n/a
14	CHD2	chr17:45771565-45771885	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr17:45771610-45771958	HepG2	liver:	n/a	n/a
16	CHD2	chr17:45771512-45771863	GM12878	blood:	n/a	n/a
17	CHD2	chr17:45771176-45771181	HepG2	liver:	n/a	n/a
18	CTBP2	chr17:45771527-45773901	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr17:45773060-45773210	HUVEC	blood vessel:	n/a	chr17:45773174-45773187
20	CTCF	chr17:45770754-45770842	MCF-7	breast:	n/a	n/a
21	CTCF	chr17:45770759-45770833	MCF-7	breast:	n/a	n/a
22	CTCF	chr17:45772531-45772536	GM19239	blood:	n/a	n/a
23	CTCF	chr17:45772260-45772410	AG04449	skin:	n/a	n/a
24	CTCF	chr17:45770783-45770808	GM10248	blood:	n/a	n/a
25	CTCF	chr17:45770340-45770490	HepG2	liver:	n/a	n/a
26	CTCF	chr17:45771620-45771770	Caco-2	colon:	n/a	chr17:45771635-45771648 chr17:45771632-45771650
27	CTCF	chr17:45771183-45771269	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr17:45770714-45770804	GM12878	blood:	n/a	n/a
29	CTCF	chr17:45770673-45770873	GM12878	blood:	n/a	n/a
30	CTCF	chr17:45772472-45772515	GM19239	blood:	n/a	chr17:45772490-45772503
31	CTCF	chr17:45772537-45772653	GM19239	blood:	n/a	n/a
32	CTCF	chr17:45770707-45770838	MCF-7	breast:	n/a	n/a
33	CTCF	chr17:45772312-45772424	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr17:45770752-45770812	GM19240	blood:	n/a	n/a
35	CTCF	chr17:45770745-45770836	GM19239	blood:	n/a	n/a
36	CTCF	chr17:45771100-45771250	GM12871	blood:	n/a	n/a
37	CTCF	chr17:45771084-45771194	GM12891	blood:	n/a	n/a
38	CTCF	chr17:45771780-45771930	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr17:45771129-45771220	GM19239	blood:	n/a	n/a
40	CTCF	chr17:45770732-45770821	MCF-7	breast:	n/a	n/a
41	CTCF	chr17:45771860-45772010	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr17:45772426-45772428	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr17:45770750-45770814	GM12892	blood:	n/a	n/a
44	CTCFL	chr17:45771131-45771289	K562	blood:	n/a	n/a
45	E2F6	chr17:45772270-45772601	K562	blood:	n/a	n/a
46	E2F6	chr17:45771408-45771521	K562	blood:	n/a	chr17:45771436-45771446
47	E2F6	chr17:45772259-45772682	K562	blood:	n/a	n/a
48	E2F6	chr17:45772369-45772511	K562	blood:	n/a	n/a
49	E2F6	chr17:45771041-45771357	K562	blood:	n/a	chr17:45771200-45771210 chr17:45771182-45771192
50	EBF1	chr17:45771418-45771623	GM12878	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:45771936-45771986	HUVEC	blood vessel:	n/a
2	chr17:45771936-45771986	MCF-7	breast:	n/a
3	chr17:45772523-45772573	HRCEpiC	kidney:	n/a
4	chr17:45771108-45771158	AG09319	gingival:	n/a
5	chr17:45772523-45772573	GM19239	blood:	n/a
6	chr17:45772800-45772850	HEK293	kidney:	embryo
7	chr17:45771108-45771158	K562	blood:	n/a
8	chr17:45772386-45772436	GM12892	blood:	n/a
9	chr17:45772386-45772436	H1-hESC	embryonic stem cell:	embryo
10	chr17:45771936-45771986	HEEpiC	esophagus:	n/a
11	chr17:45772386-45772436	HCF	heart:	n/a
12	chr17:45771570-45771620	HPAEpiC	pulmonary alveolar:	n/a
13	chr17:45771570-45771620	HAEpiC	amniotic membrane:	n/a
14	chr17:45771108-45771158	SK-N-SH	brain:	n/a
15	chr17:45772333-45772383	HRCEpiC	kidney:	n/a
16	chr17:45771570-45771620	SKMC	muscle:	n/a
17	chr17:45772473-45772523	HCF	heart:	n/a
18	chr17:45772523-45772573	SAEC	small airway:	n/a
19	chr17:45772473-45772523	LNCaP	prostate:	n/a
20	chr17:45772386-45772436	Hela-S3	cervix:	n/a
21	chr17:45771108-45771158	T-47D	breast:	n/a
22	chr17:45772523-45772573	Caco-2	colon:	n/a
23	chr17:45771108-45771158	SK-N-MC	brain:	n/a
24	chr17:45771108-45771158	NH-A	brain:	n/a
25	chr17:45772386-45772436	HIPEpiC	eye:	n/a
26	chr17:45772629-45772679	HepG2	liver:	n/a
27	chr17:45772333-45772383	PFSK-1	brain:	n/a
28	chr17:45772800-45772850	NHDF-neo	bronchial:	n/a
29	chr17:45772467-45772517	HIPEpiC	eye:	n/a
30	chr17:45772800-45772850	GM06990	blood:	n/a
31	chr17:45771936-45771986	AoSMC	blood vessel:	n/a
32	chr17:45772523-45772573	ECC-1	luminal epithelium:	n/a
33	chr17:45772473-45772523	AG09319	gingival:	n/a
34	chr17:45771570-45771620	NHBE	bronchial:	n/a
35	chr17:45771570-45771620	Jurkat	blood:	n/a
36	chr17:45771108-45771158	GM12891	blood:	n/a
37	chr17:45772800-45772850	PrEC	prostate:	n/a
38	chr17:45771936-45771986	Hepatocyte	liver:	n/a
39	chr17:45772523-45772573	AG09319	gingival:	n/a
40	chr17:45772523-45772573	BE2_C	brain:	n/a
41	chr17:45772386-45772436	LNCaP	prostate:	n/a
42	chr17:45771570-45771620	NH-A	brain:	n/a
43	chr17:45772523-45772573	H1-hESC	embryonic stem cell:	embryo
44	chr17:45772523-45772573	K562	blood:	n/a
45	chr17:45772523-45772573	RPTEC	kidney:	n/a
46	chr17:45772386-45772436	SK-N-MC	brain:	n/a
47	chr17:45772629-45772679	Hepatocyte	liver:	n/a
48	chr17:45772629-45772679	BJ	skin:	n/a
49	chr17:45772467-45772517	Jurkat	blood:	n/a
50	chr17:45772467-45772517	U87	brain:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45750793..45752075-chr17:45770216..45771134,22	MCF-7	breast:
2	chr17:45773054..45774558-chr17:45795596..45798236,2	K562	blood:
3	chr17:45739146..45741935-chr17:45773163..45775798,2	K562	blood:
4	chr17:45759177..45766275-chr17:45767435..45773662,12	K562	blood:
5	chr17:45770570..45771073-chr17:49021534..49022059,2	MCF-7	breast:
6	chr17:45770024..45772308-chr17:49229388..49231446,2	MCF-7	breast:
7	chr17:45769138..45771658-chr17:46124750..46126805,2	MCF-7	breast:
8	chr17:45770607..45771146-chr17:49025306..49026180,2	MCF-7	breast:
9	chr17:45724693..45730044-chr17:45766323..45778247,15	K562	blood:
10	chr17:45769360..45771428-chr17:45820876..45822784,2	K562	blood:
11	chr17:45750780..45752037-chr17:45770257..45771137,11	MCF-7	breast:
12	chr17:45773167..45774951-chr17:45788821..45791623,2	K562	blood:
13	chr17:45771011..45773166-chr17:45884072..45886713,2	MCF-7	breast:
14	chr17:45769286..45774957-chr17:48935664..48947128,23	MCF-7	breast:
15	chr17:45748954..45758231-chr17:45766475..45774270,24	MCF-7	breast:
16	chr17:45751758..45755455-chr17:45769353..45774872,5	MCF-7	breast:
17	chr17:45768574..45772572-chr17:48939145..48944059,6	MCF-7	breast:
18	chr17:45770755..45772966-chr17:48944233..48946026,2	MCF-7	breast:
19	chr17:45744847..45747701-chr17:45770377..45772396,2	MCF-7	breast:
20	chr17:7854842..7855345-chr17:45770546..45771148,2	MCF-7	breast:
21	chr17:45759280..45761453-chr17:45769227..45771829,2	MCF-7	breast:
22	chr17:45769943..45772007-chr17:45907461..45910429,3	K562	blood:
23	chr17:45725833..45728916-chr17:45770004..45772680,3	MCF-7	breast:
24	chr17:45725675..45729413-chr17:45768882..45774493,5	K562	blood:
25	chr17:45750680..45752011-chr17:45770212..45771248,37	MCF-7	breast:

No data

Variant related genes	Relation type
TBKBP1	TF binding region
TBKBP1	CpG island
ENSG00000141232	chromatin interactions
ENSG00000263766	chromatin interactions
ENSG00000006025	chromatin interactions
ENSG00000159111	chromatin interactions
ENSG00000263412	chromatin interactions
ENSG00000239672	chromatin interactions
ENSG00000243678	chromatin interactions
ENSG00000141294	chromatin interactions
ENSG00000011052	chromatin interactions
ENSG00000229980	chromatin interactions
ENSG00000082641	chromatin interactions
ENSG00000264558	chromatin interactions
ENSG00000108424	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558467128	chr17:45770506-45770507	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs16942912	chr17:45770554-45770555	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs550278481	chr17:45770580-45770581	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs554619246	chr17:45770609-45770610	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs138229203	chr17:45770615-45770616	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs543374661	chr17:45770690-45770691	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs563680837	chr17:45770691-45770692	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs532691457	chr17:45770730-45770731	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs150994708	chr17:45770828-45770829	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs186957737	chr17:45770936-45770937	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs573176250	chr17:45770962-45770963	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs528650134	chr17:45770966-45770967	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs547535147	chr17:45770989-45770990	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs567322758	chr17:45771015-45771016	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs199562742	chr17:45771016-45771017	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs55748555	chr17:45771032-45771033	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs8075566	chr17:45771037-45771038	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs549790156	chr17:45771048-45771049	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs193253474	chr17:45771297-45771298	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs538533923	chr17:45771322-45771323	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs558784114	chr17:45771391-45771392	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs565761112	chr17:45771576-45771577	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs534466620	chr17:45771579-45771580	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs554656024	chr17:45771647-45771648	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs574582906	chr17:45771750-45771751	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs149555730	chr17:45771774-45771775	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs557057558	chr17:45771777-45771778	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs577500687	chr17:45771780-45771781	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs568585624	chr17:45771787-45771788	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs559967426	chr17:45771798-45771799	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs373146669	chr17:45771799-45771800	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs542401331	chr17:45771815-45771816	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs62074054	chr17:45771816-45771817	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs529807505	chr17:45771838-45771839	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs67919208	chr17:45771873-45771874	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs569532089	chr17:45771880-45771881	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs62074055	chr17:45771933-45771934	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs185386744	chr17:45771936-45771937	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs565928370	chr17:45771947-45771948	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs534549119	chr17:45771951-45771952	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs531909324	chr17:45772090-45772091	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs531012931	chr17:45772109-45772110	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs552312999	chr17:45772110-45772111	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs537133157	chr17:45772247-45772248	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs56069116	chr17:45772255-45772256	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs550402591	chr17:45772265-45772266	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs143253970	chr17:45772347-45772348	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs189102159	chr17:45772382-45772383	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs112221866	chr17:45772406-45772407	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs563048395	chr17:45772409-45772410	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45758200-45770600	Weak transcription	Fetal Brain Male	brain
2	chr17:45762600-45770600	Weak transcription	Aorta	Aorta
3	chr17:45763400-45770800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:45764800-45770600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:45765000-45770600	Weak transcription	HMEC	breast
6	chr17:45765200-45770600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr17:45765400-45770600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr17:45765400-45770600	Weak transcription	Fetal Brain Female	brain
9	chr17:45767800-45770600	Weak transcription	HSMMtube	muscle
10	chr17:45768800-45770600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:45769400-45770600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:45769400-45770600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr17:45769400-45770800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:45769600-45770600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr17:45769600-45770600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr17:45769600-45770600	Enhancers	Fetal Muscle Trunk	muscle
17	chr17:45769600-45770600	Enhancers	HUVEC	blood vessel
18	chr17:45769600-45770800	Enhancers	Psoas Muscle	Psoas
19	chr17:45769600-45771000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:45769800-45770600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr17:45769800-45770600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr17:45769800-45770600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:45769800-45770600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr17:45769800-45770600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:45769800-45770600	Enhancers	Brain Anterior Caudate	brain
26	chr17:45769800-45770600	Enhancers	Right Atrium	heart
27	chr17:45769800-45770600	Enhancers	Right Ventricle	heart
28	chr17:45769800-45770600	Enhancers	K562	blood
29	chr17:45769800-45770800	Bivalent Enhancer	Fetal Thymus	thymus
30	chr17:45769800-45771000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr17:45769800-45771000	Enhancers	Spleen	Spleen
32	chr17:45769800-45771200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr17:45770000-45770600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:45770000-45770600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr17:45770000-45770600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr17:45770000-45770600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr17:45770000-45770600	Enhancers	Brain Hippocampus Middle	brain
38	chr17:45770000-45770600	Enhancers	Colonic Mucosa	Colon
39	chr17:45770000-45770600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr17:45770000-45770600	Enhancers	Fetal Stomach	stomach
41	chr17:45770000-45770600	Enhancers	Pancreas	Pancrea
42	chr17:45770000-45770600	Enhancers	Rectal Smooth Muscle	rectum
43	chr17:45770000-45770600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
44	chr17:45770000-45770800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:45770000-45770800	Enhancers	Ovary	ovary
46	chr17:45770000-45771000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr17:45770000-45771000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr17:45770000-45771000	Bivalent Enhancer	Placenta	Placenta
49	chr17:45770000-45771200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr17:45770000-45771200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links