Variant report

Variant	nsv460527
Chromosome Location	chr3:50028385-50153356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1180)
CpG islands
(count:1467)
Chromatin interactive
region (count:49)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:1180 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:50125919-50126486	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:50126030-50126356	K562	blood:	n/a	n/a
3	ATF2	chr3:50126134-50126573	GM12878	blood:	n/a	n/a
4	BACH1	chr3:50087921-50088056	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr3:50087964-50088134	K562	blood:	n/a	n/a
6	BCL3	chr3:50125898-50126550	A549	lung:	n/a	n/a
7	BCLAF1	chr3:50119709-50120135	GM12878	blood:	n/a	n/a
8	BHLHE40	chr3:50126147-50126482	K562	blood:	n/a	n/a
9	BHLHE40	chr3:50126839-50126979	GM12878	blood:	n/a	n/a
10	BHLHE40	chr3:50126009-50126467	GM12878	blood:	n/a	n/a
11	BRCA1	chr3:50035994-50036087	GM12878	blood:	n/a	n/a
12	BRCA1	chr3:50126105-50126680	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr3:50126762-50126940	GM12878	blood:	n/a	n/a
14	BRCA1	chr3:50126381-50126581	HepG2	liver:	n/a	n/a
15	CBX3	chr3:50125780-50126506	K562	blood:	n/a	n/a
16	CCNT2	chr3:50126326-50127019	K562	blood:	n/a	chr3:50126329-50126338
17	CEBPB	chr3:50089263-50089419	H1-hESC	embryonic stem cell:	n/a	chr3:50089334-50089345
18	CEBPB	chr3:50081882-50082240	IMR90	lung:	n/a	chr3:50082050-50082061
19	CEBPB	chr3:50081920-50082230	A549	lung:	n/a	chr3:50082050-50082061
20	CEBPB	chr3:50100866-50100920	K562	blood:	n/a	n/a
21	CEBPB	chr3:50100861-50101122	HepG2	liver:	n/a	chr3:50100980-50100991
22	CEBPB	chr3:50081970-50082227	ECC-1	luminal epithelium:	n/a	chr3:50082050-50082061
23	CEBPB	chr3:50112868-50113094	HepG2	liver:	n/a	chr3:50112980-50112997 chr3:50112983-50112994
24	CEBPB	chr3:50147575-50147633	HepG2	liver:	n/a	chr3:50147594-50147605
25	CEBPB	chr3:50081870-50082242	HepG2	liver:	n/a	chr3:50082050-50082061
26	CEBPB	chr3:50126024-50126507	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr3:50100894-50101011	A549	lung:	n/a	chr3:50100980-50100991
28	CEBPB	chr3:50081888-50082230	Hela-S3	cervix:	n/a	chr3:50082050-50082061
29	CEBPB	chr3:50092288-50092312	K562	blood:	n/a	n/a
30	CEBPB	chr3:50149929-50150097	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr3:50081904-50082231	H1-hESC	embryonic stem cell:	n/a	chr3:50082050-50082061
32	CEBPB	chr3:50089166-50089486	HepG2	liver:	n/a	chr3:50089334-50089345
33	CEBPB	chr3:50112841-50113143	A549	lung:	n/a	chr3:50112980-50112997 chr3:50112983-50112994
34	CEBPB	chr3:50149891-50150137	HepG2	liver:	n/a	n/a
35	CEBPB	chr3:50089241-50089494	K562	blood:	n/a	chr3:50089334-50089345
36	CEBPB	chr3:50081982-50082276	ECC-1	luminal epithelium:	n/a	chr3:50082050-50082061
37	CEBPB	chr3:50149859-50150148	IMR90	lung:	n/a	n/a
38	CEBPB	chr3:50089222-50089468	A549	lung:	n/a	chr3:50089334-50089345
39	CEBPB	chr3:50081873-50082243	K562	blood:	n/a	chr3:50082050-50082061
40	CEBPB	chr3:50116423-50116545	K562	blood:	n/a	n/a
41	CEBPD	chr3:50126196-50126587	HepG2	liver:	n/a	n/a
42	CHD1	chr3:50127227-50127284	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr3:50126062-50127612	GM12878	blood:	n/a	n/a
44	CHD1	chr3:50126246-50126883	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr3:50132993-50133255	GM12878	blood:	n/a	n/a
46	CHD1	chr3:50125809-50128121	IMR90	lung:	n/a	n/a
47	CHD2	chr3:50126117-50126998	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr3:50126169-50126429	HepG2	liver:	n/a	n/a
49	CHD2	chr3:50126134-50126785	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr3:50126120-50126989	GM12878	blood:	n/a	n/a

(count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50122624-50122674	RPTEC	kidney:	n/a
2	chr3:50140385-50140435	PrEC	prostate:	n/a
3	chr3:50126178-50126228	HRCEpiC	kidney:	n/a
4	chr3:50122624-50122674	RPTEC	kidney:	n/a
5	chr3:50140385-50140435	PrEC	prostate:	n/a
6	chr3:50126178-50126228	HRCEpiC	kidney:	n/a
7	chr3:50122624-50122674	CMK	blood:	n/a
8	chr3:50126276-50126326	LNCaP	prostate:	n/a
9	chr3:50126178-50126228	NB4	blood:	n/a
10	chr3:50127011-50127061	SK-N-SH_RA	brain:	n/a
11	chr3:50127982-50128032	AG09309	skin:	n/a
12	chr3:50126028-50126078	HEK293	kidney:	embryo
13	chr3:50127203-50127253	SK-N-SH	brain:	n/a
14	chr3:50122624-50122674	NHDF-neo	bronchial:	n/a
15	chr3:50140329-50140379	GM12878	blood:	n/a
16	chr3:50126253-50126303	HIPEpiC	eye:	n/a
17	chr3:50126028-50126078	RPTEC	kidney:	n/a
18	chr3:50126266-50126316	HAEpiC	amniotic membrane:	n/a
19	chr3:50122624-50122674	AG09309	skin:	n/a
20	chr3:50126100-50126150	GM12878	blood:	n/a
21	chr3:50140275-50140325	NT2-D1	testis:	n/a
22	chr3:50127203-50127253	HRPEpiC	eye:	n/a
23	chr3:50126174-50126224	H1-hESC	embryonic stem cell:	embryo
24	chr3:50126067-50126117	NT2-D1	testis:	n/a
25	chr3:50126253-50126303	BE2_C	brain:	n/a
26	chr3:50126028-50126078	GM12892	blood:	n/a
27	chr3:50140385-50140435	RPTEC	kidney:	n/a
28	chr3:50126028-50126078	HPAEpiC	pulmonary alveolar:	n/a
29	chr3:50126266-50126316	HRPEpiC	eye:	n/a
30	chr3:50126266-50126316	SAEC	small airway:	n/a
31	chr3:50140110-50140160	RPTEC	kidney:	n/a
32	chr3:50140275-50140325	ovcar-3	ovarian:	n/a
33	chr3:50126067-50126117	ProgFib	skin:	n/a
34	chr3:50126711-50126761	HCM	heart:	n/a
35	chr3:50127982-50128032	Jurkat	blood:	n/a
36	chr3:50127982-50128032	RPTEC	kidney:	n/a
37	chr3:50126228-50126278	HIPEpiC	eye:	n/a
38	chr3:50126434-50126484	HAEpiC	amniotic membrane:	n/a
39	chr3:50140246-50140296	NH-A	brain:	n/a
40	chr3:50140329-50140379	HRPEpiC	eye:	n/a
41	chr3:50140329-50140379	Caco-2	colon:	n/a
42	chr3:50140110-50140160	BJ	skin:	n/a
43	chr3:50126711-50126761	K562	blood:	n/a
44	chr3:50126178-50126228	BE2_C	brain:	n/a
45	chr3:50122624-50122674	K562	blood:	n/a
46	chr3:50126711-50126761	AG04450	lung:	fetal
47	chr3:50140275-50140325	HepG2	liver:	n/a
48	chr3:50126253-50126303	HRPEpiC	eye:	n/a
49	chr3:50126178-50126228	HRPEpiC	eye:	n/a
50	chr3:50126434-50126484	AG10803	skin:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50037509..50039299-chr3:50062748..50064702,2	MCF-7	breast:
2	chr3:50125097..50128236-chr3:50128554..50131975,3	MCF-7	breast:
3	chr3:50125762..50129022-chr3:50137938..50141076,4	K562	blood:
4	chr3:50126080..50126817-chr3:197025051..197025628,2	Hela-S3	cervix:
5	chr17:48943215..48944003-chr3:50126322..50126966,2	Hela-S3	cervix:
6	chr3:49966031..49968659-chr3:50125180..50127794,3	K562	blood:
7	chr3:50150154..50152874-chr3:50153182..50156279,3	K562	blood:
8	chr3:50150154..50152874-chr3:50153182..50156279,3	K562	blood:
9	chr3:50140494..50142592-chr3:50149296..50150915,2	K562	blood:
10	chr3:50126047..50129250-chr3:50131237..50134548,5	K562	blood:
11	chr3:49943520..49945282-chr3:50028077..50030089,2	K562	blood:
12	chr3:50035315..50037436-chr3:50045585..50047929,2	MCF-7	breast:
13	chr3:50027643..50030377-chr3:50031655..50033615,2	K562	blood:
14	chr3:50131320..50133089-chr3:50157321..50159844,2	K562	blood:
15	chr3:50122524..50125290-chr3:50125428..50127425,2	K562	blood:
16	chr3:49966762..49969614-chr3:50125142..50129125,3	K562	blood:
17	chr3:50103040..50106585-chr3:50126937..50129142,3	K562	blood:
18	chr3:50129704..50131638-chr3:50149642..50152823,3	K562	blood:
19	chr3:50125097..50128236-chr3:50128554..50131975,3	MCF-7	breast:
20	chr3:50144744..50147316-chr3:50219770..50222620,2	K562	blood:
21	chr3:50126047..50131036-chr3:50131245..50135023,6	K562	blood:
22	chr3:50125762..50129022-chr3:50137938..50141076,4	K562	blood:
23	chr3:50149717..50151316-chr3:50273425..50276151,2	MCF-7	breast:
24	chr3:50133405..50135088-chr3:50138221..50140267,2	K562	blood:
25	chr3:50130138..50132585-chr3:50151323..50154093,2	K562	blood:
26	chr1:114447360..114448137-chr3:50126334..50127160,2	NB4	blood:
27	chr3:50131279..50132784-chr3:50275487..50276987,2	MCF-7	breast:
28	chr3:50126575..50128257-chr3:50136862..50139788,2	MCF-7	breast:
29	chr3:50130138..50132585-chr3:50151323..50154093,2	K562	blood:
30	chr3:50060113..50061890-chr3:50064863..50067741,2	K562	blood:
31	chr3:50103040..50106585-chr3:50126937..50129142,3	K562	blood:
32	chr3:50127396..50129156-chr3:50141876..50143415,2	K562	blood:
33	chr3:50132011..50135142-chr3:50138027..50140510,3	K562	blood:
34	chr3:50029898..50031827-chr3:50035708..50038441,2	K562	blood:
35	chr3:50037509..50039299-chr3:50062748..50064702,2	MCF-7	breast:
36	chr3:50139935..50141821-chr3:50143256..50144852,2	MCF-7	breast:
37	chr3:50127396..50129156-chr3:50141876..50143415,2	K562	blood:
38	chr3:50129704..50131638-chr3:50149642..50152823,3	K562	blood:
39	chr3:50060113..50061890-chr3:50064863..50067741,2	K562	blood:
40	chr3:50139935..50141821-chr3:50143256..50144852,2	MCF-7	breast:
41	chr3:49976300..49979550-chr3:50125389..50128777,3	K562	blood:
42	chr3:50077079..50080417-chr3:50083246..50086481,3	K562	blood:
43	chr3:50057660..50059872-chr6:31709500..31711893,2	K562	blood:
44	chr3:49975788..49978611-chr3:50125447..50127862,2	MCF-7	breast:
45	chr3:50149445..50151714-chr3:50193369..50195764,2	MCF-7	breast:
46	chr3:50126575..50128257-chr3:50136862..50139788,2	MCF-7	breast:
47	chr3:49899384..49901506-chr3:50147689..50150023,2	K562	blood:
48	chr3:50140494..50142592-chr3:50149296..50150915,2	K562	blood:
49	chr3:50027643..50030377-chr3:50031655..50033615,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM5-3	chr3:50095161-50095280	NONHSAT089779
2	lnc-RBM5-3	chr3:50091449-50091828	NONHSAT089779
3	lnc-RBM5-1	chr3:50124168-50124422	expReg_chr3_4587_+
4	lnc-MON1A-1	chr3:50137036-50138421	NONHSAT089783
5	lnc-MON1A-1	chr3:50137035-50138421	LUST

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RBM5	hsa-miR-186-5p	chr3:50138855-50138876
2	RBM6	hsa-miR-16-5p	chr3:50114630-50114649
3	RBM5	hsa-miR-320b	chr3:50138138-50138159
4	RBM6	hsa-miR-16-5p	chr3:50114642-50114649
5	RBM5	hsa-miR-320b	chr3:50139330-50139350
6	RBM5	hsa-miR-320b	chr3:50139378-50139399

Variant related genes	Relation type
RBM6	TF binding region
RBM5	TF binding region
RBM6	CpG island
RBM5	CpG island
ENSG00000164076	chromatin interactions
ENSG00000164077	chromatin interactions
ENSG00000004534	chromatin interactions
ENSG00000264706	chromatin interactions
ENSG00000003756	chromatin interactions
ENSG00000141232	chromatin interactions
ENSG00000235016	chromatin interactions
ENSG00000227375	chromatin interactions
ENSG00000134262	chromatin interactions
ENSG00000075711	chromatin interactions
ENSG00000001617	chromatin interactions
ENSG00000114353	chromatin interactions
ENSG00000204410	chromatin interactions
ENSG00000118655	chromatin interactions

Extended variants
information (count: 4177 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:4177 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4688758	chr3:50028385-50028386	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528131384	chr3:50028427-50028428	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560336662	chr3:50028457-50028458	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186488451	chr3:50028464-50028465	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191494501	chr3:50028553-50028554	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567512621	chr3:50028568-50028569	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373505001	chr3:50028569-50028570	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373252851	chr3:50028599-50028600	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376177203	chr3:50028656-50028657	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535407667	chr3:50028657-50028658	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557326702	chr3:50028665-50028666	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375311542	chr3:50028690-50028691	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144054144	chr3:50028705-50028706	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114803149	chr3:50028728-50028729	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547871605	chr3:50028737-50028738	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566491266	chr3:50028803-50028804	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557938871	chr3:50028808-50028809	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146447906	chr3:50028826-50028827	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140837719	chr3:50028878-50028879	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553355813	chr3:50028967-50028968	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574771108	chr3:50029034-50029035	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144598984	chr3:50029114-50029115	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563682895	chr3:50029115-50029116	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531059922	chr3:50029142-50029143	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545994293	chr3:50029166-50029167	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182442290	chr3:50029239-50029240	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138310398	chr3:50029351-50029352	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370135343	chr3:50029380-50029381	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529683604	chr3:50029386-50029387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2624831	chr3:50029744-50029745	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546405486	chr3:50029837-50029838	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185100464	chr3:50029855-50029856	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370249843	chr3:50029925-50029926	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148284581	chr3:50030077-50030078	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs570830099	chr3:50030091-50030092	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550547859	chr3:50030101-50030102	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569220758	chr3:50030320-50030321	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539734180	chr3:50030336-50030337	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558017084	chr3:50030414-50030415	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534875973	chr3:50030464-50030465	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538004595	chr3:50030480-50030481	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189562961	chr3:50030484-50030485	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs140393390	chr3:50030496-50030497	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529089803	chr3:50030505-50030506	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183430687	chr3:50030510-50030511	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs574832210	chr3:50030523-50030524	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556348893	chr3:50030529-50030530	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs386660857	chr3:50030547-50030548	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs80089229	chr3:50030548-50030549	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs75584811	chr3:50030579-50030580	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164919	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:3204 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49978800-50041000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:49992200-50037000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:49995400-50033200	Weak transcription	Fetal Brain Male	brain
4	chr3:49998000-50078200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:49998400-50029600	Weak transcription	Fetal Heart	heart
6	chr3:49998400-50078600	Weak transcription	K562	blood
7	chr3:49999800-50028400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:50002200-50057000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:50003000-50033400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:50004400-50044200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:50005000-50031400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:50005000-50036800	Weak transcription	Small Intestine	intestine
13	chr3:50005200-50033400	Weak transcription	Esophagus	oesophagus
14	chr3:50005200-50046400	Weak transcription	Psoas Muscle	Psoas
15	chr3:50005200-50050600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:50005400-50036800	Weak transcription	Brain Anterior Caudate	brain
17	chr3:50006000-50064000	Weak transcription	Stomach Mucosa	stomach
18	chr3:50006200-50040800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:50008600-50050400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:50010800-50087000	Weak transcription	NHLF	lung
21	chr3:50011000-50031800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:50011000-50036600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr3:50011000-50036800	Weak transcription	Brain Angular Gyrus	brain
24	chr3:50011000-50037000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:50011000-50041000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:50011000-50046400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:50011000-50046400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:50011000-50048400	Weak transcription	A549	lung
29	chr3:50011000-50051000	Weak transcription	Pancreas	Pancrea
30	chr3:50011000-50078400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr3:50011000-50091600	Weak transcription	Colonic Mucosa	Colon
32	chr3:50011400-50035800	Weak transcription	Lung	lung
33	chr3:50012400-50049000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr3:50014800-50035800	Weak transcription	NHDF-Ad	bronchial
35	chr3:50015200-50031800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr3:50015200-50092000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:50015400-50046400	Weak transcription	Fetal Kidney	kidney
38	chr3:50015800-50033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:50015800-50041000	Weak transcription	HSMMtube	muscle
40	chr3:50016000-50040800	Weak transcription	Brain Substantia Nigra	brain
41	chr3:50016600-50036800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:50016800-50037200	Weak transcription	Hela-S3	cervix
43	chr3:50017800-50035800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:50018800-50029400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr3:50018800-50043600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:50019000-50028800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr3:50021000-50029800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:50021000-50031800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr3:50021600-50029600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:50021800-50028600	Strong transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links