Variant report

Variant	nsv874003
Chromosome Location	chr2:48570509-48619869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:564)
CpG islands
(count:122)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:13)

(count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:48582705-48582882	K562	blood:	n/a	n/a
2	ARID3A	chr2:48574979-48575185	K562	blood:	n/a	n/a
3	ARID3A	chr2:48573086-48573910	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:48570947-48571931	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:48572216-48572796	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:48584022-48584395	K562	blood:	n/a	n/a
7	ARID3A	chr2:48574923-48575175	HepG2	liver:	n/a	n/a
8	BCL3	chr2:48570810-48571714	A549	lung:	n/a	n/a
9	BCLAF1	chr2:48580177-48580745	GM12878	blood:	n/a	n/a
10	BCLAF1	chr2:48574818-48575241	GM12878	blood:	n/a	n/a
11	BHLHE40	chr2:48584174-48584447	K562	blood:	n/a	n/a
12	BHLHE40	chr2:48584258-48584478	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:48589554-48589602	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:48572468-48572678	HepG2	liver:	n/a	n/a
15	BHLHE40	chr2:48574997-48575123	GM12878	blood:	n/a	n/a
16	BRCA1	chr2:48572431-48572575	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr2:48570905-48571653	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr2:48615791-48616010	HCT-116	colon:	n/a	n/a
19	CBX3	chr2:48615661-48616117	K562	blood:	n/a	n/a
20	CBX3	chr2:48574895-48575259	K562	blood:	n/a	n/a
21	CBX3	chr2:48574764-48575263	HCT-116	colon:	n/a	n/a
22	CBX3	chr2:48574799-48575377	K562	blood:	n/a	n/a
23	CBX3	chr2:48574779-48575275	HCT-116	colon:	n/a	n/a
24	CBX3	chr2:48617136-48617571	K562	blood:	n/a	n/a
25	CBX3	chr2:48615790-48616068	HCT-116	colon:	n/a	n/a
26	CBX3	chr2:48615712-48616079	K562	blood:	n/a	n/a
27	CCNT2	chr2:48583939-48584139	K562	blood:	n/a	n/a
28	CEBPB	chr2:48572377-48572646	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:48573099-48573647	Hela-S3	cervix:	n/a	chr2:48573236-48573247 chr2:48573234-48573245 chr2:48573236-48573247 chr2:48573234-48573247 chr2:48573234-48573247
30	CEBPB	chr2:48570993-48571791	A549	lung:	n/a	n/a
31	CEBPB	chr2:48572385-48572757	IMR90	lung:	n/a	n/a
32	CEBPB	chr2:48572366-48572575	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:48572348-48572727	A549	lung:	n/a	n/a
34	CEBPB	chr2:48601946-48602278	HepG2	liver:	n/a	n/a
35	CEBPB	chr2:48572336-48572694	HepG2	liver:	n/a	n/a
36	CEBPB	chr2:48606395-48606424	H1-hESC	embryonic stem cell:	n/a	chr2:48606402-48606413
37	CEBPB	chr2:48573081-48573667	IMR90	lung:	n/a	chr2:48573236-48573247 chr2:48573234-48573245 chr2:48573236-48573247 chr2:48573234-48573247 chr2:48573234-48573247
38	CEBPB	chr2:48574384-48574482	HepG2	liver:	n/a	n/a
39	CEBPB	chr2:48570855-48571744	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr2:48604722-48604995	IMR90	lung:	n/a	n/a
41	CEBPB	chr2:48588026-48588143	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr2:48573088-48573619	A549	lung:	n/a	chr2:48573236-48573247 chr2:48573234-48573245 chr2:48573236-48573247 chr2:48573234-48573247 chr2:48573234-48573247
43	CEBPB	chr2:48572367-48572729	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr2:48602063-48602289	A549	lung:	n/a	n/a
45	CEBPB	chr2:48606357-48606549	HepG2	liver:	n/a	chr2:48606402-48606413
46	CEBPB	chr2:48606238-48606553	K562	blood:	n/a	chr2:48606402-48606413
47	CEBPB	chr2:48603589-48603815	HepG2	liver:	n/a	chr2:48603695-48603706
48	CEBPB	chr2:48573068-48573590	HepG2	liver:	n/a	chr2:48573236-48573247 chr2:48573234-48573245 chr2:48573236-48573247 chr2:48573234-48573247 chr2:48573234-48573247
49	CEBPB	chr2:48572969-48573744	A549	lung:	n/a	chr2:48573236-48573247 chr2:48573234-48573245 chr2:48573236-48573247 chr2:48573234-48573247 chr2:48573234-48573247
50	CEBPB	chr2:48572192-48572830	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:48604775-48604825	Hepatocyte	liver:	n/a
2	chr2:48584360-48584410	HMEC	breast:	n/a
3	chr2:48584360-48584410	Caco-2	colon:	n/a
4	chr2:48604775-48604825	HCPEpiC	choroid plexus:	n/a
5	chr2:48584360-48584410	MCF10A-Er-Src	breast:	n/a
6	chr2:48584360-48584410	HCT-116	colon:	n/a
7	chr2:48604775-48604825	Hela-S3	cervix:	n/a
8	chr2:48584360-48584410	Jurkat	blood:	n/a
9	chr2:48584360-48584410	IMR90	lung:	fetal
10	chr2:48584360-48584410	NB4	blood:	n/a
11	chr2:48584360-48584410	HCPEpiC	choroid plexus:	n/a
12	chr2:48604775-48604825	HCF	heart:	n/a
13	chr2:48604775-48604825	NHBE	bronchial:	n/a
14	chr2:48584360-48584410	HPAEpiC	pulmonary alveolar:	n/a
15	chr2:48584360-48584410	HAEpiC	amniotic membrane:	n/a
16	chr2:48584360-48584410	BJ	skin:	n/a
17	chr2:48584360-48584410	PANC-1	pancreas:	n/a
18	chr2:48604775-48604825	HRPEpiC	eye:	n/a
19	chr2:48604775-48604825	HAEpiC	amniotic membrane:	n/a
20	chr2:48584360-48584410	GM12892	blood:	n/a
21	chr2:48604775-48604825	HUVEC	blood vessel:	n/a
22	chr2:48584360-48584410	HUVEC	blood vessel:	n/a
23	chr2:48584360-48584410	NHDF-neo	bronchial:	n/a
24	chr2:48604775-48604825	SAEC	small airway:	n/a
25	chr2:48604775-48604825	HCT-116	colon:	n/a
26	chr2:48604775-48604825	H1-hESC	embryonic stem cell:	embryo
27	chr2:48604775-48604825	ECC-1	luminal epithelium:	n/a
28	chr2:48604775-48604825	Jurkat	blood:	n/a
29	chr2:48584360-48584410	SK-N-MC	brain:	n/a
30	chr2:48604775-48604825	HNPCEpiC	eye:	n/a
31	chr2:48604775-48604825	SK-N-SH_RA	brain:	n/a
32	chr2:48604775-48604825	AG04449	skin:	fetal
33	chr2:48584360-48584410	HRE	kidney:	n/a
34	chr2:48604775-48604825	NB4	blood:	n/a
35	chr2:48584360-48584410	HepG2	liver:	n/a
36	chr2:48584360-48584410	SK-N-SH	brain:	n/a
37	chr2:48584360-48584410	Hepatocyte	liver:	n/a
38	chr2:48604775-48604825	HRCEpiC	kidney:	n/a
39	chr2:48584360-48584410	AoSMC	blood vessel:	n/a
40	chr2:48604775-48604825	RPTEC	kidney:	n/a
41	chr2:48584360-48584410	HIPEpiC	eye:	n/a
42	chr2:48584360-48584410	AG10803	skin:	n/a
43	chr2:48584360-48584410	GM06990	blood:	n/a
44	chr2:48604775-48604825	HPAEpiC	pulmonary alveolar:	n/a
45	chr2:48584360-48584410	HEEpiC	esophagus:	n/a
46	chr2:48604775-48604825	PANC-1	pancreas:	n/a
47	chr2:48604775-48604825	SKMC	muscle:	n/a
48	chr2:48584360-48584410	ECC-1	luminal epithelium:	n/a
49	chr2:48604775-48604825	IMR90	lung:	fetal
50	chr2:48604775-48604825	GM12878	blood:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48568069..48570400-chr2:48600787..48602390,2	K562	blood:
2	chr2:48568928..48571039-chr2:48579815..48581773,2	MCF-7	breast:
3	chr2:48541369..48544104-chr2:48569607..48573166,3	MCF-7	breast:
4	chr2:48578562..48582388-chr2:48582784..48586939,6	K562	blood:
5	chr2:48583541..48585248-chr2:48599640..48601828,2	MCF-7	breast:
6	chr2:48578681..48582388-chr2:48582784..48586647,4	K562	blood:
7	chr2:48566382..48569170-chr2:48571400..48573761,2	K562	blood:
8	chr2:48592285..48594588-chr2:48601399..48603499,2	MCF-7	breast:
9	chr2:48568928..48571039-chr2:48579815..48581773,2	MCF-7	breast:
10	chr2:48578562..48582388-chr2:48582784..48586939,6	K562	blood:
11	chr2:48598202..48600856-chr2:48603158..48604738,2	K562	blood:
12	chr2:48338352..48340381-chr2:48619344..48622319,2	K562	blood:
13	chr2:48337775..48340265-chr2:48597214..48600170,2	MCF-7	breast:
14	chr2:48337910..48340125-chr2:48569442..48571000,2	MCF-7	breast:
15	chr2:48589573..48591686-chr2:48594924..48597026,2	K562	blood:
16	chr2:48598202..48600856-chr2:48603158..48604738,2	K562	blood:
17	chr2:48604176..48606531-chr2:48606806..48608312,2	K562	blood:
18	chr2:48592285..48594588-chr2:48601399..48603499,2	MCF-7	breast:
19	chr2:48601929..48604341-chr2:48608996..48611918,2	MCF-7	breast:
20	chr2:48578681..48582388-chr2:48582784..48586647,4	K562	blood:
21	chr2:48583541..48585248-chr2:48599640..48601828,2	MCF-7	breast:
22	chr2:48589573..48591686-chr2:48594924..48597026,2	K562	blood:
23	chr2:48617829..48620871-chr2:48622412..48626412,3	K562	blood:
24	chr2:48618125..48619641-chr2:48666426..48668080,2	K562	blood:
25	chr2:48601929..48604341-chr2:48608996..48611918,2	MCF-7	breast:
26	chr2:48568770..48570498-chr2:48574091..48575734,2	MCF-7	breast:
27	chr2:48604176..48606531-chr2:48606806..48608312,2	K562	blood:

No data

(count:13 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	FOXN2	hsa-miR-186-5p	chr2:48605973-48605979
2	FOXN2	hsa-miR-183-5p	chr2:48603740-48603746
3	FOXN2	hsa-miR-183-5p	chr2:48605994-48606000
4	FOXN2	hsa-miR-186-5p	chr2:48604712-48604733
5	FOXN2	hsa-miR-186-5p	chr2:48603298-48603319
6	FOXN2	hsa-miR-183-5p	chr2:48605980-48606001
7	FOXN2	hsa-miR-32-5p	chr2:48602583-48602604
8	FOXN2	hsa-miR-32-5p	chr2:48605322-48605342
9	FOXN2	hsa-miR-186-5p	chr2:48605960-48605980
10	FOXN2	hsa-miR-186-5p	chr2:48602603-48602624
11	FOXN2	hsa-miR-183-5p	chr2:48603727-48603747
12	FOXN2	hsa-miR-186-5p	chr2:48602617-48602624
13	FOXN2	hsa-miR-32-5p	chr2:48605335-48605342

Variant related genes	Relation type
RNU4-49P	TF binding region
RNU4-49P	CpG island
ENSG00000251889	chromatin interactions
ENSG00000162869	chromatin interactions
ENSG00000170802	chromatin interactions
ENSG00000272663	chromatin interactions

Extended variants
information (count: 2094 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2094 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12999977	chr2:48570509-48570510	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs184169940	chr2:48570515-48570516	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs151215911	chr2:48570522-48570523	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569273754	chr2:48570559-48570560	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539431636	chr2:48570562-48570563	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551877280	chr2:48570588-48570589	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs140410741	chr2:48570612-48570613	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs534827935	chr2:48570647-48570648	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs111959035	chr2:48570669-48570670	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553161213	chr2:48570674-48570675	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs574786539	chr2:48570738-48570739	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs28396134	chr2:48570744-48570745	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs552822562	chr2:48570747-48570748	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs189011776	chr2:48570765-48570766	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs557279555	chr2:48570799-48570800	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570999180	chr2:48570880-48570881	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575224337	chr2:48570895-48570896	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs577934106	chr2:48570899-48570900	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs546040457	chr2:48570900-48570901	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs61501475	chr2:48570901-48570902	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs397974986	chr2:48570913-48570914	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs182248266	chr2:48570969-48570970	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544995160	chr2:48570995-48570996	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564226019	chr2:48571011-48571012	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs535220348	chr2:48571013-48571014	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs553197255	chr2:48571039-48571040	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs144182998	chr2:48571076-48571077	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs146552897	chr2:48571079-48571080	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs556346949	chr2:48571081-48571082	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs185493566	chr2:48571089-48571090	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs190742765	chr2:48571106-48571107	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs180839563	chr2:48571138-48571139	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs111846185	chr2:48571174-48571175	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs551451764	chr2:48571179-48571180	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs371441788	chr2:48571183-48571184	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs185354834	chr2:48571211-48571212	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs190062358	chr2:48571212-48571213	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556909360	chr2:48571222-48571223	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs145057948	chr2:48571232-48571233	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs138849224	chr2:48571259-48571260	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs557245749	chr2:48571283-48571284	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs569025852	chr2:48571303-48571304	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs375986723	chr2:48571402-48571403	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs62137005	chr2:48571416-48571417	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs148980736	chr2:48571417-48571418	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs143780547	chr2:48571421-48571422	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs34312175	chr2:48571422-48571423	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs111426362	chr2:48571436-48571437	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs116829769	chr2:48571445-48571446	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs558022513	chr2:48571527-48571528	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1957 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48543600-48570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:48544400-48570800	Weak transcription	HMEC	breast
3	chr2:48548600-48570600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:48552400-48570600	Weak transcription	Aorta	Aorta
5	chr2:48553400-48574400	Weak transcription	Lung	lung
6	chr2:48553800-48570800	Weak transcription	Thymus	Thymus
7	chr2:48554400-48570600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:48555400-48570600	Weak transcription	NHLF	lung
9	chr2:48556800-48570600	Weak transcription	Fetal Thymus	thymus
10	chr2:48556800-48571600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:48557000-48573200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:48557000-48573400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:48558400-48571400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:48558800-48571200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:48559000-48570600	Weak transcription	Left Ventricle	heart
16	chr2:48559000-48570600	Weak transcription	Spleen	Spleen
17	chr2:48559800-48570600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:48559800-48570600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:48559800-48573400	Weak transcription	Fetal Kidney	kidney
20	chr2:48559800-48573400	Weak transcription	Right Atrium	heart
21	chr2:48560600-48573600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:48561000-48571200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:48561600-48571400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:48561800-48571000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:48562000-48573400	Weak transcription	Psoas Muscle	Psoas
26	chr2:48562000-48573400	Weak transcription	K562	blood
27	chr2:48562200-48571000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:48564800-48574400	Weak transcription	Fetal Stomach	stomach
29	chr2:48565200-48570600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:48565200-48570800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:48565800-48570600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:48565800-48571800	Weak transcription	Fetal Intestine Small	intestine
33	chr2:48566000-48570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:48566200-48570600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:48566600-48573600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:48566800-48570600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr2:48566800-48571000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:48567000-48570600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:48567200-48571400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr2:48567400-48571000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:48567400-48571000	Enhancers	Brain Substantia Nigra	brain
42	chr2:48567600-48570800	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:48567800-48570600	Weak transcription	Small Intestine	intestine
44	chr2:48568000-48570800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr2:48568200-48570600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:48568200-48570800	Enhancers	HepG2	liver
47	chr2:48568400-48570800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:48568800-48571000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:48569000-48570600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr2:48569000-48570600	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links