Variant report

Variant	esv3327553
Chromosome Location	chr1:162038353-162040901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:302)
CpG islands
(count:550)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:302 , 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	chr1:162039324-162039399	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr1:162039248-162039363	HepG2	liver:	n/a	n/a
3	BRCA1	chr1:162039188-162039386	Hela-S3	cervix:	n/a	n/a
4	CCNT2	chr1:162039191-162039947	K562	blood:	n/a	chr1:162039309-162039318
5	CEBPB	chr1:162039650-162039816	HepG2	liver:	n/a	n/a
6	CEBPB	chr1:162039839-162040489	H1-hESC	embryonic stem cell:	n/a	chr1:162040283-162040294
7	CEBPB	chr1:162040165-162040382	K562	blood:	n/a	chr1:162040283-162040294
8	CEBPB	chr1:162040151-162040453	HepG2	liver:	n/a	chr1:162040283-162040294
9	CEBPB	chr1:162038919-162039051	K562	blood:	n/a	n/a
10	CEBPB	chr1:162039673-162039825	HepG2	liver:	n/a	n/a
11	CEBPB	chr1:162040143-162040549	ECC-1	luminal epithelium:	n/a	chr1:162040283-162040294
12	CEBPB	chr1:162040102-162040533	ECC-1	luminal epithelium:	n/a	chr1:162040283-162040294
13	CEBPB	chr1:162038828-162040482	Hela-S3	cervix:	n/a	chr1:162040283-162040294
14	CEBPB	chr1:162040100-162040431	MCF-7	breast:	n/a	chr1:162040283-162040294
15	CEBPB	chr1:162039948-162040357	IMR90	lung:	n/a	chr1:162040283-162040294
16	CEBPD	chr1:162039132-162039591	HepG2	liver:	n/a	n/a
17	CEBPD	chr1:162039148-162039630	HepG2	liver:	n/a	n/a
18	CHD1	chr1:162040449-162041123	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr1:162039785-162040219	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr1:162039140-162039342	HepG2	liver:	n/a	chr1:162039172-162039182
21	CHD2	chr1:162040725-162041031	HepG2	liver:	n/a	n/a
22	CHD2	chr1:162040868-162040926	GM12878	blood:	n/a	n/a
23	CHD2	chr1:162040212-162040342	HepG2	liver:	n/a	n/a
24	CHD2	chr1:162039967-162039974	HepG2	liver:	n/a	n/a
25	CHD2	chr1:162039030-162040916	Hela-S3	cervix:	n/a	chr1:162039172-162039182 chr1:162039452-162039462
26	CREB1	chr1:162039190-162039708	A549	lung:	n/a	n/a
27	CREB1	chr1:162039402-162039945	K562	blood:	n/a	n/a
28	CTBP2	chr1:162039155-162040949	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr1:162039640-162039790	GM12871	blood:	n/a	n/a
30	CTCF	chr1:162039620-162039770	GM12865	blood:	n/a	n/a
31	CTCF	chr1:162039692-162039802	NHEK	skin:	n/a	n/a
32	CTCF	chr1:162039664-162039813	GM12892	blood:	n/a	n/a
33	CTCF	chr1:162039705-162039809	GM19239	blood:	n/a	n/a
34	CTCF	chr1:162039691-162039814	Gliobla	brain:	n/a	n/a
35	CTCF	chr1:162039694-162039780	Fibrobl	skin:	n/a	n/a
36	CTCF	chr1:162039695-162039806	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr1:162039660-162039810	GM12872	blood:	n/a	n/a
38	CTCF	chr1:162039681-162039836	MCF-7	breast:	n/a	n/a
39	CTCF	chr1:162039740-162039890	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr1:162039620-162039770	GM12871	blood:	n/a	n/a
41	CTCF	chr1:162039701-162039791	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:162039680-162039830	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr1:162039680-162039830	HMEC	breast:	n/a	n/a
44	CTCF	chr1:162039683-162039825	A549	lung:	n/a	n/a
45	CTCF	chr1:162039730-162039793	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr1:162039580-162039730	GM12866	blood:	n/a	n/a
47	CTCF	chr1:162039641-162039861	MCF-7	breast:	n/a	n/a
48	CTCF	chr1:162040580-162040730	GM12867	blood:	n/a	n/a
49	CTCF	chr1:162039680-162039830	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr1:162039393-162039512	Spleen_OC	spleen:	n/a	chr1:162039450-162039463

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:162039149-162039199	SKMC	muscle:	n/a
2	chr1:162039149-162039199	SKMC	muscle:	n/a
3	chr1:162039957-162040007	PrEC	prostate:	n/a
4	chr1:162039240-162039290	HMEC	breast:	n/a
5	chr1:162039502-162039552	ProgFib	skin:	n/a
6	chr1:162039957-162040007	HNPCEpiC	eye:	n/a
7	chr1:162039224-162039274	CMK	blood:	n/a
8	chr1:162039957-162040007	AG04450	lung:	fetal
9	chr1:162039761-162039811	NT2-D1	testis:	n/a
10	chr1:162039957-162040007	NH-A	brain:	n/a
11	chr1:162039959-162040009	HUVEC	blood vessel:	n/a
12	chr1:162039149-162039199	HMEC	breast:	n/a
13	chr1:162039957-162040007	U87	brain:	n/a
14	chr1:162039224-162039274	HMEC	breast:	n/a
15	chr1:162039959-162040009	ECC-1	luminal epithelium:	n/a
16	chr1:162039240-162039290	HIPEpiC	eye:	n/a
17	chr1:162039948-162039998	HRPEpiC	eye:	n/a
18	chr1:162039314-162039364	HCF	heart:	n/a
19	chr1:162039957-162040007	IMR90	lung:	fetal
20	chr1:162039502-162039552	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:162039761-162039811	ECC-1	luminal epithelium:	n/a
22	chr1:162039502-162039552	SK-N-SH_RA	brain:	n/a
23	chr1:162039948-162039998	BJ	skin:	n/a
24	chr1:162039149-162039199	PrEC	prostate:	n/a
25	chr1:162039314-162039364	BJ	skin:	n/a
26	chr1:162039948-162039998	GM19239	blood:	n/a
27	chr1:162039957-162040007	SAEC	small airway:	n/a
28	chr1:162039149-162039199	BJ	skin:	n/a
29	chr1:162039314-162039364	IMR90	lung:	fetal
30	chr1:162039502-162039552	BE2_C	brain:	n/a
31	chr1:162039948-162039998	SAEC	small airway:	n/a
32	chr1:162039948-162039998	PrEC	prostate:	n/a
33	chr1:162039314-162039364	SK-N-MC	brain:	n/a
34	chr1:162039761-162039811	IMR90	lung:	fetal
35	chr1:162039240-162039290	PrEC	prostate:	n/a
36	chr1:162039948-162039998	ProgFib	skin:	n/a
37	chr1:162039502-162039552	Hela-S3	cervix:	n/a
38	chr1:162039314-162039364	HPAEpiC	pulmonary alveolar:	n/a
39	chr1:162039948-162039998	HIPEpiC	eye:	n/a
40	chr1:162039224-162039274	HL-60	blood:	n/a
41	chr1:162039149-162039199	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:162039502-162039552	SK-N-SH	brain:	n/a
43	chr1:162039240-162039290	Jurkat	blood:	n/a
44	chr1:162039224-162039274	Hela-S3	cervix:	n/a
45	chr1:162039959-162040009	IMR90	lung:	fetal
46	chr1:162039240-162039290	Hepatocyte	liver:	n/a
47	chr1:162039314-162039364	Hela-S3	cervix:	n/a
48	chr1:162039502-162039552	NT2-D1	testis:	n/a
49	chr1:162039502-162039552	HepG2	liver:	n/a
50	chr1:162039761-162039811	AG10803	skin:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:162034513..162046128-chr1:162124602..162140186,38	MCF-7	breast:
2	chr1:162039943..162041995-chr1:162128877..162130460,2	MCF-7	breast:
3	chr1:162038846..162039677-chr3:169684574..169685199,2	Hela-S3	cervix:
4	chr1:162021135..162023804-chr1:162037158..162038666,2	K562	blood:
5	chr1:162038941..162039449-chr6:30523463..30524177,2	Hela-S3	cervix:
6	chr1:162037160..162039156-chr1:162230504..162232264,2	MCF-7	breast:
7	chr1:162030881..162032483-chr1:162039899..162041427,2	MCF-7	breast:
8	chr1:162040025..162041549-chr1:162136640..162139515,2	MCF-7	breast:

No data

Variant related genes	Relation type
NOS1AP	TF binding region
NOS1AP	CpG island
ENSG00000204590	chromatin interactions
ENSG00000008952	chromatin interactions
ENSG00000266144	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201020537	chr1:162038361-162038362	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs184938313	chr1:162038394-162038395	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs578017466	chr1:162038487-162038488	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs145712534	chr1:162038526-162038527	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs574527815	chr1:162038548-162038549	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs533730449	chr1:162038582-162038583	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537597882	chr1:162038641-162038642	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs79687329	chr1:162038663-162038664	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs553590176	chr1:162038669-162038670	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs147739892	chr1:162038683-162038684	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs541673516	chr1:162038685-162038686	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs561666303	chr1:162038693-162038694	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs571970658	chr1:162038730-162038731	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs188630053	chr1:162038748-162038749	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs12090585	chr1:162038776-162038777	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs114289042	chr1:162038814-162038815	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs142575325	chr1:162038874-162038875	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs563132626	chr1:162038974-162038975	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs563834663	chr1:162038988-162038989	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs529514554	chr1:162039022-162039023	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs143325384	chr1:162039029-162039030	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs566260926	chr1:162039069-162039070	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs576225501	chr1:162039075-162039076	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs181109863	chr1:162039078-162039079	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs80174072	chr1:162039079-162039080	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs148226692	chr1:162039097-162039098	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs571654519	chr1:162039117-162039118	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs537109486	chr1:162039140-162039141	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs557037985	chr1:162039163-162039164	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs575801140	chr1:162039175-162039176	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs535628858	chr1:162039176-162039177	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs367883195	chr1:162039182-162039183	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs373769686	chr1:162039183-162039184	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs575416235	chr1:162039193-162039194	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs187114485	chr1:162039212-162039213	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs572227756	chr1:162039261-162039262	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs112108062	chr1:162039274-162039275	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs12044487	chr1:162039394-162039395	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs577578215	chr1:162039421-162039422	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs543496983	chr1:162039427-162039428	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs563394728	chr1:162039482-162039483	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs529476763	chr1:162039536-162039537	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs543228757	chr1:162039554-162039555	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs559942819	chr1:162039584-162039585	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs528769988	chr1:162039695-162039696	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs552059515	chr1:162039714-162039715	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs571503407	chr1:162039798-162039799	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs75619952	chr1:162039816-162039817	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs550624214	chr1:162039907-162039908	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567404645	chr1:162039988-162039989	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:516 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:162032600-162038600	Weak transcription	Right Ventricle	heart
2	chr1:162033000-162038400	Weak transcription	Aorta	Aorta
3	chr1:162033200-162038800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:162033600-162038800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:162033800-162038800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:162034000-162038400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:162034000-162038600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:162035200-162038600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:162035200-162038600	Enhancers	HepG2	liver
10	chr1:162035200-162039000	Weak transcription	Left Ventricle	heart
11	chr1:162035400-162038400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:162035400-162038600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:162035600-162038600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:162036000-162038400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:162036000-162038400	Weak transcription	K562	blood
16	chr1:162036000-162038600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:162036000-162038800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:162036000-162038800	Weak transcription	Right Atrium	heart
19	chr1:162037200-162038600	Enhancers	Hela-S3	cervix
20	chr1:162037200-162039200	Enhancers	Fetal Heart	heart
21	chr1:162037600-162039000	Enhancers	Fetal Intestine Small	intestine
22	chr1:162038000-162038400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:162038200-162038400	Flanking Active TSS	Fetal Kidney	kidney
24	chr1:162038200-162038600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:162038200-162038600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr1:162038200-162039000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr1:162038400-162038600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:162038400-162038600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:162038400-162038600	Enhancers	K562	blood
30	chr1:162038400-162038800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr1:162038400-162038800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:162038400-162038800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr1:162038400-162038800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
34	chr1:162038400-162038800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:162038400-162038800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:162038400-162038800	Enhancers	Liver	Liver
37	chr1:162038400-162038800	Enhancers	Fetal Intestine Large	intestine
38	chr1:162038400-162038800	Enhancers	Fetal Kidney	kidney
39	chr1:162038400-162038800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr1:162038400-162039000	Enhancers	Aorta	Aorta
41	chr1:162038600-162038800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:162038600-162038800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:162038600-162038800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr1:162038600-162038800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
45	chr1:162038600-162038800	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
46	chr1:162038600-162038800	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
47	chr1:162038600-162038800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:162038600-162038800	Enhancers	Adipose Nuclei	Adipose
49	chr1:162038600-162038800	Enhancers	Brain Angular Gyrus	brain
50	chr1:162038600-162038800	Enhancers	Brain Anterior Caudate	brain

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