Variant report

Variant	nsv539548
Chromosome Location	chr8:35655964-36210907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1363)
CpG islands
(count:733)
Chromatin interactive
region (count:31)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1363 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:35998754-35999027	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:35998781-35999050	K562	blood:	n/a	n/a
3	ATF1	chr8:35694479-35694576	K562	blood:	n/a	n/a
4	ATF2	chr8:35718465-35718780	GM12878	blood:	n/a	n/a
5	ATF2	chr8:35718359-35718833	GM12878	blood:	n/a	n/a
6	BACH1	chr8:35973723-35973757	K562	blood:	n/a	n/a
7	BACH1	chr8:35874478-35874818	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr8:36126038-36126313	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr8:35801904-35802359	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr8:35817981-35818072	K562	blood:	n/a	n/a
11	BACH1	chr8:36139222-36139571	K562	blood:	n/a	n/a
12	BACH1	chr8:36139227-36139586	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr8:35767333-35767578	GM12878	blood:	n/a	n/a
14	BATF	chr8:35718379-35718751	GM12878	blood:	n/a	chr8:35718642-35718652
15	BATF	chr8:35718466-35718742	GM12878	blood:	n/a	chr8:35718642-35718652
16	BATF	chr8:35952817-35953061	GM12878	blood:	n/a	chr8:35952957-35952968
17	BCL11A	chr8:35755403-35755668	GM12878	blood:	n/a	n/a
18	BCL11A	chr8:35718409-35718777	GM12878	blood:	n/a	n/a
19	BCL11A	chr8:35718438-35718749	GM12878	blood:	n/a	n/a
20	BHLHE40	chr8:36127900-36128094	HepG2	liver:	n/a	n/a
21	BHLHE40	chr8:35768471-35768657	GM12878	blood:	n/a	n/a
22	BHLHE40	chr8:35755372-35755653	GM12878	blood:	n/a	n/a
23	BRCA1	chr8:35725959-35725973	GM12878	blood:	n/a	n/a
24	BRCA1	chr8:35916503-35916505	GM12878	blood:	n/a	n/a
25	CBX3	chr8:35817194-35817452	K562	blood:	n/a	n/a
26	CEBPB	chr8:36157752-36157805	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr8:35893934-35894005	H1-hESC	embryonic stem cell:	n/a	chr8:35893965-35893982 chr8:35893968-35893981 chr8:35893968-35893981
28	CEBPB	chr8:35716391-35716548	HepG2	liver:	n/a	n/a
29	CEBPB	chr8:36005039-36005743	A549	lung:	n/a	chr8:36005181-36005192
30	CEBPB	chr8:35832368-35832711	HepG2	liver:	n/a	n/a
31	CEBPB	chr8:35914872-35915081	HepG2	liver:	n/a	chr8:35914963-35914974 chr8:35914965-35914976 chr8:35914965-35914974
32	CEBPB	chr8:36005035-36005623	HepG2	liver:	n/a	chr8:36005181-36005192
33	CEBPB	chr8:35998793-35999054	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr8:35998814-35999027	K562	blood:	n/a	n/a
35	CEBPB	chr8:35910037-35910101	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr8:35832375-35832682	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr8:36202344-36202662	H1-hESC	embryonic stem cell:	n/a	chr8:36202485-36202494 chr8:36202483-36202496 chr8:36202484-36202495 chr8:36202483-36202494 chr8:36202485-36202494 chr8:36202485-36202494 chr8:36202485-36202494
38	CEBPB	chr8:36202455-36202655	HepG2	liver:	n/a	chr8:36202485-36202494 chr8:36202483-36202496 chr8:36202484-36202495 chr8:36202483-36202494 chr8:36202485-36202494 chr8:36202485-36202494 chr8:36202485-36202494
39	CEBPB	chr8:35875286-35875292	K562	blood:	n/a	n/a
40	CEBPB	chr8:36128116-36128362	HepG2	liver:	n/a	chr8:36128212-36128223 chr8:36128213-36128224 chr8:36128212-36128225
41	CEBPB	chr8:35802637-35802717	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr8:35832380-35832725	IMR90	lung:	n/a	n/a
43	CEBPB	chr8:36081963-36082234	HepG2	liver:	n/a	chr8:36082096-36082107
44	CEBPB	chr8:35963198-35963200	A549	lung:	n/a	n/a
45	CEBPB	chr8:35974568-35974770	HepG2	liver:	n/a	chr8:35974699-35974710
46	CEBPB	chr8:36005010-36005627	IMR90	lung:	n/a	chr8:36005181-36005192
47	CEBPB	chr8:36199377-36199577	K562	blood:	n/a	chr8:36199406-36199419 chr8:36199406-36199419
48	CEBPB	chr8:36005074-36005292	K562	blood:	n/a	chr8:36005181-36005192
49	CEBPB	chr8:36082033-36082248	A549	lung:	n/a	chr8:36082096-36082107
50	CEBPB	chr8:36062368-36062394	A549	lung:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:35731494-35731544	Hepatocyte	liver:	n/a
2	chr8:35731494-35731544	Hepatocyte	liver:	n/a
3	chr8:35685207-35685257	SK-N-SH	brain:	n/a
4	chr8:35731494-35731544	HRPEpiC	eye:	n/a
5	chr8:35979325-35979375	HCM	heart:	n/a
6	chr8:35762637-35762687	A549	lung:	n/a
7	chr8:35979325-35979375	SKMC	muscle:	n/a
8	chr8:35979325-35979375	HPAEpiC	pulmonary alveolar:	n/a
9	chr8:35913614-35913664	ECC-1	luminal epithelium:	n/a
10	chr8:35979033-35979083	NT2-D1	testis:	n/a
11	chr8:35731609-35731659	RPTEC	kidney:	n/a
12	chr8:35803167-35803217	SK-N-SH_RA	brain:	n/a
13	chr8:35979033-35979083	HEEpiC	esophagus:	n/a
14	chr8:35979338-35979388	ovcar-3	ovarian:	n/a
15	chr8:35979033-35979083	Hela-S3	cervix:	n/a
16	chr8:35744638-35744688	SK-N-SH_RA	brain:	n/a
17	chr8:35979338-35979388	SK-N-SH	brain:	n/a
18	chr8:35803167-35803217	Hepatocyte	liver:	n/a
19	chr8:35979033-35979083	NHDF-neo	bronchial:	n/a
20	chr8:35744638-35744688	MCF10A-Er-Src	breast:	n/a
21	chr8:35979325-35979375	BE2_C	brain:	n/a
22	chr8:35979179-35979229	SK-N-SH	brain:	n/a
23	chr8:35979179-35979229	AG04450	lung:	fetal
24	chr8:35685207-35685257	A549	lung:	n/a
25	chr8:35744638-35744688	PFSK-1	brain:	n/a
26	chr8:35979338-35979388	K562	blood:	n/a
27	chr8:35979033-35979083	SAEC	small airway:	n/a
28	chr8:35762637-35762687	GM19239	blood:	n/a
29	chr8:35979179-35979229	PANC-1	pancreas:	n/a
30	chr8:35979108-35979158	T-47D	breast:	n/a
31	chr8:35685207-35685257	HCF	heart:	n/a
32	chr8:35803167-35803217	HIPEpiC	eye:	n/a
33	chr8:35744638-35744688	Hepatocyte	liver:	n/a
34	chr8:35685207-35685257	MCF10A-Er-Src	breast:	n/a
35	chr8:35979108-35979158	HNPCEpiC	eye:	n/a
36	chr8:35803167-35803217	HRCEpiC	kidney:	n/a
37	chr8:35913614-35913664	GM12891	blood:	n/a
38	chr8:35979179-35979229	RPTEC	kidney:	n/a
39	chr8:35979338-35979388	SK-N-MC	brain:	n/a
40	chr8:35731609-35731659	SAEC	small airway:	n/a
41	chr8:35744638-35744688	BE2_C	brain:	n/a
42	chr8:35762637-35762687	HMEC	breast:	n/a
43	chr8:35979033-35979083	ovcar-3	ovarian:	n/a
44	chr8:35979179-35979229	HRCEpiC	kidney:	n/a
45	chr8:35762637-35762687	NHBE	bronchial:	n/a
46	chr8:35979179-35979229	HEK293	kidney:	embryo
47	chr8:35685207-35685257	PFSK-1	brain:	n/a
48	chr8:35731494-35731544	K562	blood:	n/a
49	chr8:35913614-35913664	NHBE	bronchial:	n/a
50	chr8:35731609-35731659	ECC-1	luminal epithelium:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:35993182..35994756-chr8:35996509..35999089,2	K562	blood:
2	chr3:73159093..73162068-chr8:35678068..35679569,2	MCF-7	breast:
3	chr17:41399296..41402359-chr8:35678068..35681088,3	MCF-7	breast:
4	chr8:35744346..35744912-chr8:35998590..35999359,2	MCF-7	breast:
5	chr8:35998628..35999297-chr8:36630776..36631627,3	MCF-7	breast:
6	chr8:33663430..33663957-chr8:35744542..35745198,2	MCF-7	breast:
7	chr17:41380631..41382205-chr8:35678068..35679588,2	MCF-7	breast:
8	chr8:36184128..36185820-chr8:36198877..36200625,2	K562	blood:
9	chr8:35296451..35297364-chr8:35998554..35999313,2	MCF-7	breast:
10	chr8:35018612..35019300-chr8:35998668..35999178,2	MCF-7	breast:
11	chr8:35009829..35010450-chr8:35998446..35999665,3	MCF-7	breast:
12	chr8:35899435..35901974-chr8:35902766..35905726,2	K562	blood:
13	chr17:41398363..41402584-chr8:35679569..35681089,3	K562	blood:
14	chr8:35787657..35788212-chr8:35806131..35807030,2	MCF-7	breast:
15	chr17:41401117..41402640-chr8:35678068..35679569,2	K562	blood:
16	chr8:36036347..36039298-chr8:36039472..36041633,2	MCF-7	breast:
17	chr3:73158515..73160568-chr8:35679569..35681069,2	K562	blood:
18	chr17:41463858..41466219-chr8:35678069..35679569,3	K562	blood:
19	chr17:41464397..41466335-chr8:35678069..35679588,3	K562	blood:
20	chr8:35009843..35010391-chr8:35998408..35998917,2	MCF-7	breast:
21	chr8:35993182..35994756-chr8:35996509..35999089,2	K562	blood:
22	chr8:35452680..35453282-chr8:35998615..35999410,2	MCF-7	breast:
23	chr8:36173773..36176086-chr8:36196865..36199430,2	MCF-7	breast:
24	chr13:35589705..35590705-chr8:36059332..36059852,2	MCF-7	breast:
25	chr8:35899435..35901974-chr8:35902766..35905726,2	K562	blood:
26	chr17:41400768..41402617-chr8:35678068..35679569,3	K562	blood:
27	chr8:35787657..35788212-chr8:35806131..35807030,2	MCF-7	breast:
28	chr8:36036347..36039298-chr8:36039472..36041633,2	MCF-7	breast:
29	chr8:35744346..35744912-chr8:35998590..35999359,2	MCF-7	breast:
30	chr8:36173773..36176086-chr8:36196865..36199430,2	MCF-7	breast:
31	chr8:36184128..36185820-chr8:36198877..36200625,2	K562	blood:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC5D-2	chr8:35757901-35758022	ENSG00000253452
2	lnc-UNC5D-2	chr8:35750072-35750201	ENSG00000253452
3	lnc-RP11-419C23.1.1-4	chr8:35861838-35862110	ENSG00000253524
4	lnc-UNC5D-2	chr8:35757901-35758022	ENSG00000253452
5	lnc-UNC5D-2	chr8:35750072-35750201	ENSG00000253452
6	lnc-RP11-419C23.1.1-8	chr8:36178665-36178922	NONHSAT126017
7	lnc-UNC5D-2	chr8:35720025-35720138	ENSG00000253452
8	lnc-RP11-419C23.1.1-8	chr8:36178557-36178598	NONHSAT126017
9	lnc-UNC5D-2	chr8:35783552-35783638	ENSG00000253452
10	lnc-RP11-419C23.1.1-4	chr8:35892385-35892466	ENSG00000253524
11	lnc-RP11-419C23.1.1-11	chr8:36083091-36083154	NONHSAT126011
12	lnc-RP11-419C23.1.1-4	chr8:35951496-35951543	ENSG00000253524
13	lnc-UNC5D-2	chr8:35720027-35720138	ENSG00000253452
14	lnc-RP11-419C23.1.1-9	chr8:36137009-36137214	NONHSAT126015
15	lnc-UNC5D-6	chr8:36136478-36137001	NONHSAT126014
16	lnc-UNC5D-5	chr8:36124003-36124282	NONHSAT126012
17	lnc-RP11-419C23.1.1-4	chr8:35861834-35862110	ENSG00000253524
18	lnc-UNC5D-2	chr8:35787238-35787275	ENSG00000253452
19	lnc-UNC5D-2	chr8:35801762-35801920	ENSG00000253452
20	lnc-RP11-419C23.1.1-12	chr8:35978916-35979201	NONHSAT126010
21	lnc-UNC5D-2	chr8:35828131-35828183	ENSG00000253452
22	lnc-UNC5D-2	chr8:35788183-35788228	ENSG00000253452
23	lnc-UNC5D-2	chr8:35719641-35719668	ENSG00000253452
24	lnc-RP11-419C23.1.1-4	chr8:35951496-35951527	ENSG00000253524
25	lnc-RP11-419C23.1.1-4	chr8:35952530-35952564	ENSG00000253524
26	lnc-RP11-419C23.1.1-11	chr8:36088465-36088673	NONHSAT126011

No data

Variant related genes	Relation type
RNU6-533P	TF binding region
ENSG00000254309	TF binding region
ENSG00000253504	TF binding region
ENSG00000253685	TF binding region
MTND6P19	TF binding region
ENSG00000253610	TF binding region
ENSG00000254320	TF binding region
ENSG00000253452	TF binding region
ENSG00000253524	TF binding region
RN7SKP201	TF binding region
RNU6-533P	CpG island
ENSG00000254309	CpG island
ENSG00000253504	CpG island
ENSG00000253685	CpG island
MTND6P19	CpG island
ENSG00000253610	CpG island
ENSG00000254320	CpG island
ENSG00000253452	CpG island
ENSG00000253524	CpG island
RN7SKP201	CpG island
ENSG00000236383	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000188825	chromatin interactions

Extended variants
information (count: 9113 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:9113 , 50 per page) page: 1 2 3 4 5 6 7 ... 183

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146711147	chr8:35656037-35656038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541029862	chr8:35656064-35656065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117152925	chr8:35656148-35656149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557627633	chr8:35656174-35656175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530067357	chr8:35656208-35656209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs55865683	chr8:35656275-35656276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201026255	chr8:35656290-35656291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370786237	chr8:35656300-35656301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548263837	chr8:35656302-35656303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16884454	chr8:35656315-35656316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1436616	chr8:35656434-35656435	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs531010046	chr8:35656438-35656439	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs72637525	chr8:35656452-35656453	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs17273031	chr8:35656529-35656530	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs571017563	chr8:35656531-35656532	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs535344341	chr8:35656541-35656542	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs531257672	chr8:35656545-35656546	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs140337350	chr8:35656579-35656580	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs568045953	chr8:35656601-35656602	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs535483179	chr8:35656619-35656620	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs144123463	chr8:35656724-35656725	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs575410711	chr8:35656747-35656748	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs539214049	chr8:35656762-35656763	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs371589883	chr8:35656777-35656778	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs557946529	chr8:35656780-35656781	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs573024465	chr8:35656790-35656791	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs540501823	chr8:35656815-35656816	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs561683910	chr8:35656818-35656819	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs574486489	chr8:35656842-35656843	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs374914222	chr8:35656850-35656851	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs562905392	chr8:35656892-35656893	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs554693926	chr8:35656987-35656988	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs530296497	chr8:35657010-35657011	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs79355045	chr8:35657081-35657082	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs146511581	chr8:35657142-35657143	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs62504081	chr8:35657163-35657164	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564725092	chr8:35657183-35657184	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs186330901	chr8:35657257-35657258	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs191631461	chr8:35657297-35657298	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs568817504	chr8:35657368-35657369	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs181617946	chr8:35657449-35657450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186752850	chr8:35657486-35657487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550602739	chr8:35657513-35657514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370727176	chr8:35657539-35657540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150079030	chr8:35657645-35657646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539539739	chr8:35657677-35657678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557594341	chr8:35657698-35657699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570981598	chr8:35657786-35657787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538311661	chr8:35657819-35657820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75899696	chr8:35657827-35657828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21785460	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Renal cell carcinoma	21215367	CNVD
Chordoma	21215367	CNVD
Acute myeloid leukemia	19651600	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:955 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35641000-35656000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:35656000-35656200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:35656200-35656600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:35656400-35657400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:35656600-35657200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:35657200-35664400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:35661400-35662000	Enhancers	Stomach Mucosa	stomach
8	chr8:35662000-35666400	Weak transcription	Stomach Mucosa	stomach
9	chr8:35664200-35664600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:35664400-35664600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:35666400-35666800	Enhancers	Fetal Muscle Trunk	muscle
12	chr8:35666400-35667000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:35666400-35667000	Enhancers	Stomach Mucosa	stomach
14	chr8:35666600-35667000	Enhancers	Pancreas	Pancrea
15	chr8:35672400-35672600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:35672800-35674000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:35674000-35674400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:35681800-35682000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:35682000-35682200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:35682800-35683200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:35682800-35684600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:35682800-35686200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:35683200-35683600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:35683400-35684600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:35683400-35686000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:35683600-35685600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:35683800-35685800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:35683800-35685800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr8:35683800-35686200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:35683800-35686200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:35684000-35684600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:35684000-35684600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:35685800-35686800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:35686200-35686800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:35686800-35687400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr8:35699000-35699400	ZNF genes & repeats	Pancreas	Pancrea
37	chr8:35699000-35699600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:35699200-35699600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:35699400-35699600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:35699600-35700000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:35700000-35700400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:35700400-35701400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:35712000-35712400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:35712200-35712800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:35716600-35716800	ZNF genes & repeats	Psoas Muscle	Psoas
46	chr8:35716600-35717800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr8:35717200-35717800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:35717800-35718200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:35717800-35719200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:35718200-35719800	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links