Variant report

Variant	esv3419760
Chromosome Location	chr17:43504769-43509567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:684)
CpG islands
(count:917)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:43505545-43505723	HepG2	liver:	n/a	n/a
2	ATF2	chr17:43505505-43505817	GM12878	blood:	n/a	n/a
3	ATF2	chr17:43505437-43505793	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr17:43505410-43505828	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr17:43505452-43505966	A549	lung:	n/a	n/a
6	BACH1	chr17:43505540-43505901	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr17:43507438-43507626	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL11A	chr17:43505693-43505961	GM12878	blood:	n/a	n/a
9	BCL3	chr17:43508827-43509340	A549	lung:	n/a	n/a
10	BCL3	chr17:43505337-43505968	A549	lung:	n/a	n/a
11	BCLAF1	chr17:43505361-43505891	GM12878	blood:	n/a	n/a
12	BCLAF1	chr17:43506145-43506576	GM12878	blood:	n/a	chr17:43506390-43506399
13	BHLHE40	chr17:43505422-43506550	GM12878	blood:	n/a	chr17:43505566-43505582
14	BHLHE40	chr17:43509109-43509121	K562	blood:	n/a	n/a
15	BHLHE40	chr17:43508791-43508854	GM12878	blood:	n/a	n/a
16	BHLHE40	chr17:43508170-43508437	GM12878	blood:	n/a	n/a
17	BHLHE40	chr17:43507133-43507176	HepG2	liver:	n/a	n/a
18	BHLHE40	chr17:43509443-43509511	K562	blood:	n/a	n/a
19	BHLHE40	chr17:43509085-43509248	GM12878	blood:	n/a	n/a
20	BHLHE40	chr17:43505451-43506032	K562	blood:	n/a	chr17:43505566-43505582
21	BHLHE40	chr17:43507476-43507509	HepG2	liver:	n/a	n/a
22	BRCA1	chr17:43505541-43505776	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr17:43505628-43505668	GM12878	blood:	n/a	n/a
24	CBX3	chr17:43507566-43507966	K562	blood:	n/a	n/a
25	CBX3	chr17:43505434-43505943	K562	blood:	n/a	n/a
26	CBX3	chr17:43507723-43507966	K562	blood:	n/a	n/a
27	CCNT2	chr17:43509012-43509212	K562	blood:	n/a	n/a
28	CEBPB	chr17:43507628-43508132	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr17:43505613-43505622	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr17:43506599-43506810	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr17:43505442-43506099	GM12878	blood:	n/a	n/a
32	CEBPD	chr17:43509033-43509257	HepG2	liver:	n/a	n/a
33	CHD1	chr17:43505647-43505846	GM12878	blood:	n/a	n/a
34	CHD1	chr17:43506706-43507006	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr17:43509521-43509556	GM12878	blood:	n/a	n/a
36	CHD2	chr17:43509143-43509268	GM12878	blood:	n/a	chr17:43509194-43509204
37	CHD2	chr17:43508577-43508916	GM12878	blood:	n/a	n/a
38	CHD2	chr17:43505508-43505906	GM12878	blood:	n/a	n/a
39	CHD2	chr17:43508191-43508332	GM12878	blood:	n/a	n/a
40	CHD2	chr17:43505526-43505768	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr17:43505650-43505669	K562	blood:	n/a	n/a
42	CHD2	chr17:43506800-43506828	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr17:43505420-43505830	A549	lung:	n/a	n/a
44	CREB1	chr17:43508782-43509221	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTBP2	chr17:43506848-43507745	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTBP2	chr17:43505430-43505782	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr17:43505040-43505190	HCM	heart:	n/a	n/a
48	CTCF	chr17:43508940-43509090	GM12868	blood:	n/a	n/a
49	CTCF	chr17:43504660-43504810	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr17:43509060-43509210	HepG2	liver:	n/a	n/a

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:43507018-43507068	AG09319	gingival:	n/a
2	chr17:43507875-43507925	IMR90	lung:	fetal
3	chr17:43507018-43507068	AG09319	gingival:	n/a
4	chr17:43507875-43507925	IMR90	lung:	fetal
5	chr17:43505638-43505688	AoSMC	blood vessel:	n/a
6	chr17:43506497-43506547	GM06990	blood:	n/a
7	chr17:43506497-43506547	GM12892	blood:	n/a
8	chr17:43506640-43506690	NB4	blood:	n/a
9	chr17:43506540-43506590	HPAEpiC	pulmonary alveolar:	n/a
10	chr17:43508428-43508478	HPAEpiC	pulmonary alveolar:	n/a
11	chr17:43506184-43506234	GM12891	blood:	n/a
12	chr17:43509267-43509317	AG09309	skin:	n/a
13	chr17:43509479-43509529	HNPCEpiC	eye:	n/a
14	chr17:43507153-43507203	HCT-116	colon:	n/a
15	chr17:43507875-43507925	GM06990	blood:	n/a
16	chr17:43506540-43506590	HepG2	liver:	n/a
17	chr17:43506728-43506778	NHBE	bronchial:	n/a
18	chr17:43506829-43506879	PANC-1	pancreas:	n/a
19	chr17:43507153-43507203	HCM	heart:	n/a
20	chr17:43506184-43506234	GM12878	blood:	n/a
21	chr17:43508428-43508478	SAEC	small airway:	n/a
22	chr17:43506640-43506690	HAEpiC	amniotic membrane:	n/a
23	chr17:43508428-43508478	HRE	kidney:	n/a
24	chr17:43506184-43506234	HNPCEpiC	eye:	n/a
25	chr17:43507018-43507068	Caco-2	colon:	n/a
26	chr17:43506540-43506590	SK-N-SH_RA	brain:	n/a
27	chr17:43506184-43506234	SK-N-SH_RA	brain:	n/a
28	chr17:43506497-43506547	GM19239	blood:	n/a
29	chr17:43509267-43509317	LNCaP	prostate:	n/a
30	chr17:43509267-43509317	NH-A	brain:	n/a
31	chr17:43507018-43507068	BJ	skin:	n/a
32	chr17:43507018-43507068	HPAEpiC	pulmonary alveolar:	n/a
33	chr17:43508428-43508478	GM12891	blood:	n/a
34	chr17:43507153-43507203	HRCEpiC	kidney:	n/a
35	chr17:43506640-43506690	HCF	heart:	n/a
36	chr17:43508428-43508478	GM12878	blood:	n/a
37	chr17:43506640-43506690	HEEpiC	esophagus:	n/a
38	chr17:43505962-43506012	HRCEpiC	kidney:	n/a
39	chr17:43506540-43506590	GM19239	blood:	n/a
40	chr17:43505962-43506012	HUVEC	blood vessel:	n/a
41	chr17:43507875-43507925	SK-N-MC	brain:	n/a
42	chr17:43506728-43506778	HepG2	liver:	n/a
43	chr17:43507875-43507925	AG09309	skin:	n/a
44	chr17:43506728-43506778	A549	lung:	n/a
45	chr17:43505962-43506012	BE2_C	brain:	n/a
46	chr17:43506829-43506879	HNPCEpiC	eye:	n/a
47	chr17:43505962-43506012	NB4	blood:	n/a
48	chr17:43507153-43507203	PANC-1	pancreas:	n/a
49	chr17:43506640-43506690	HEK293	kidney:	embryo
50	chr17:43506728-43506778	Hela-S3	cervix:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:43226961..43229916-chr17:43504221..43507340,3	K562	blood:
2	chr17:43209603..43212111-chr17:43507781..43510715,2	MCF-7	breast:
3	chr17:43502180..43505047-chr17:43970966..43974065,3	MCF-7	breast:
4	chr17:43506157..43512040-chr17:43512446..43519071,9	MCF-7	breast:
5	chr17:43505183..43505689-chr17:43909214..43910110,2	K562	blood:
6	chr17:43508394..43510622-chr17:43970082..43971846,2	MCF-7	breast:
7	chr17:43297580..43300347-chr17:43502925..43505246,3	K562	blood:
8	chr17:43505687..43507265-chr17:43508214..43510504,2	MCF-7	breast:
9	chr17:43501401..43503182-chr17:43508338..43510884,3	MCF-7	breast:
10	chr17:43507001..43509385-chr17:43510815..43513693,2	K562	blood:
11	chr17:43507648..43509676-chr17:43511432..43515176,4	K562	blood:
12	chr17:43501715..43503974-chr17:43507657..43510348,3	MCF-7	breast:
13	chr17:43392748..43395786-chr17:43508112..43511111,3	MCF-7	breast:
14	chr17:43491389..43493065-chr17:43507690..43509408,2	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGAP27	TF binding region
ARHGAP27	CpG island
ENSG00000264589	chromatin interactions
ENSG00000184922	chromatin interactions
ENSG00000186868	chromatin interactions
ENSG00000159314	chromatin interactions
ENSG00000225190	chromatin interactions
ENSG00000006062	chromatin interactions
ENSG00000181513	chromatin interactions
ENSG00000267121	chromatin interactions
ENSG00000161714	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548035492	chr17:43504778-43504779	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs532350970	chr17:43504787-43504788	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs547575238	chr17:43504788-43504789	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs565797534	chr17:43504807-43504808	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs144907448	chr17:43504827-43504828	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs7214034	chr17:43504831-43504832	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34325863	chr17:43504889-43504890	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs566227089	chr17:43504903-43504904	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs569667711	chr17:43504935-43504936	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs553926908	chr17:43504937-43504938	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs572459348	chr17:43504968-43504969	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs370325446	chr17:43505007-43505008	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs181697369	chr17:43505040-43505041	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs556860508	chr17:43505072-43505073	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs372588734	chr17:43505088-43505089	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs536697575	chr17:43505145-43505146	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs368459100	chr17:43505258-43505259	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs538856388	chr17:43505271-43505272	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs34533259	chr17:43505303-43505304	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572284342	chr17:43505328-43505329	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs542747944	chr17:43505343-43505344	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535553034	chr17:43505367-43505368	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs561216522	chr17:43505392-43505393	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs73984397	chr17:43505495-43505496	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536359439	chr17:43505607-43505608	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs531237966	chr17:43505652-43505653	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs148005021	chr17:43505668-43505669	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs532415899	chr17:43505708-43505709	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs547632705	chr17:43505738-43505739	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs559613834	chr17:43505743-43505744	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs555169415	chr17:43505745-43505746	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs115146232	chr17:43505779-43505780	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs557162671	chr17:43505854-43505855	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs548304294	chr17:43505857-43505858	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569648751	chr17:43505866-43505867	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs187010144	chr17:43505902-43505903	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551846628	chr17:43505927-43505928	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs571622274	chr17:43506014-43506015	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs538976590	chr17:43506072-43506073	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs112427891	chr17:43506075-43506076	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs575777266	chr17:43506094-43506095	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs554028916	chr17:43506096-43506097	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs141699132	chr17:43506141-43506142	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs536444565	chr17:43506163-43506164	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs7215693	chr17:43506312-43506313	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs555052106	chr17:43506413-43506414	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs190999286	chr17:43506437-43506438	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs372756224	chr17:43506441-43506442	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs565252510	chr17:43506524-43506525	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs577285975	chr17:43506536-43506537	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	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
Neuroticism	17667963	CNVD
Prostate cancer	19156837	CNVD
Williams-beuren syndrome	18553513	CNVD
Mental retardation	17847001	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
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22817714	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:726 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:43488800-43505400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr17:43489600-43505400	Weak transcription	Brain Hippocampus Middle	brain
3	chr17:43490200-43505600	Weak transcription	Thymus	Thymus
4	chr17:43496600-43505800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:43502400-43508000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr17:43503000-43504800	Weak transcription	Primary B cells from cord blood	blood
7	chr17:43503000-43505400	Weak transcription	Fetal Thymus	thymus
8	chr17:43503000-43505400	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr17:43503000-43505400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr17:43503000-43506800	Weak transcription	Gastric	stomach
11	chr17:43503200-43505000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr17:43503200-43505400	Enhancers	Fetal Intestine Large	intestine
13	chr17:43503200-43505400	Weak transcription	Left Ventricle	heart
14	chr17:43503200-43505600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:43503200-43505600	Weak transcription	Right Atrium	heart
16	chr17:43503400-43504800	Weak transcription	GM12878-XiMat	blood
17	chr17:43503400-43505600	Weak transcription	Liver	Liver
18	chr17:43503600-43504800	Weak transcription	Stomach Mucosa	stomach
19	chr17:43503600-43505400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr17:43503600-43505400	Weak transcription	Pancreas	Pancrea
21	chr17:43503600-43505600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr17:43503800-43505000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr17:43503800-43505000	Weak transcription	Placenta	Placenta
24	chr17:43503800-43505400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:43503800-43505400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr17:43503800-43505400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:43503800-43505400	Weak transcription	Right Ventricle	heart
28	chr17:43503800-43505600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:43504000-43504800	Genic enhancers	Esophagus	oesophagus
30	chr17:43504000-43504800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr17:43504000-43505000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr17:43504000-43505200	Weak transcription	Spleen	Spleen
33	chr17:43504000-43505400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr17:43504000-43505600	Weak transcription	A549	lung
35	chr17:43504000-43505600	Weak transcription	Hela-S3	cervix
36	chr17:43504000-43505600	Weak transcription	K562	blood
37	chr17:43504000-43505600	Weak transcription	NHEK	skin
38	chr17:43504200-43504800	Weak transcription	Fetal Intestine Small	intestine
39	chr17:43504200-43505000	Weak transcription	Adipose Nuclei	Adipose
40	chr17:43504200-43505000	Weak transcription	Colonic Mucosa	Colon
41	chr17:43504200-43505000	Strong transcription	Lung	lung
42	chr17:43504200-43505200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
43	chr17:43504200-43505200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr17:43504200-43505200	Genic enhancers	Monocytes-CD14+_RO01746	blood
45	chr17:43504200-43505400	Genic enhancers	Primary monocytes fromperipheralblood	blood
46	chr17:43504200-43505400	Weak transcription	HMEC	breast
47	chr17:43504400-43505600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr17:43504400-43505600	Weak transcription	Brain Anterior Caudate	brain
49	chr17:43504600-43505200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:43504600-43505200	Flanking Bivalent TSS/Enh	HepG2	liver

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