Variant report

Variant	nsv556895
Chromosome Location	chr12:751949-761560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:906)
CpG islands
(count:305)
Chromatin interactive
region (count:21)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:906 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:754689-755011	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:755828-756036	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:754716-755060	K562	blood:	n/a	n/a
4	ATF2	chr12:751604-752174	GM12878	blood:	n/a	n/a
5	ATF3	chr12:751842-752074	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr12:751751-752142	GM12878	blood:	n/a	chr12:751828-751837
7	ATF3	chr12:754754-754995	K562	blood:	n/a	n/a
8	ATF3	chr12:751830-752092	K562	blood:	n/a	n/a
9	BACH1	chr12:754195-755306	K562	blood:	n/a	n/a
10	BACH1	chr12:754577-755073	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr12:751945-752753	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL11A	chr12:751833-752090	GM12878	blood:	n/a	n/a
13	BCL3	chr12:751585-752198	GM12878	blood:	n/a	n/a
14	BCL3	chr12:752331-752877	A549	lung:	n/a	n/a
15	BCLAF1	chr12:751697-753147	GM12878	blood:	n/a	n/a
16	BCLAF1	chr12:751703-752097	GM12878	blood:	n/a	n/a
17	BHLHE40	chr12:751793-753273	K562	blood:	n/a	chr12:751804-751820
18	BHLHE40	chr12:751566-752695	GM12878	blood:	n/a	chr12:751804-751820
19	BHLHE40	chr12:754710-755286	K562	blood:	n/a	n/a
20	BHLHE40	chr12:754660-755051	HepG2	liver:	n/a	n/a
21	BHLHE40	chr12:755724-756131	HepG2	liver:	n/a	n/a
22	CBX3	chr12:752477-753062	K562	blood:	n/a	n/a
23	CCNT2	chr12:754819-755135	K562	blood:	n/a	n/a
24	CCNT2	chr12:751817-752596	K562	blood:	n/a	n/a
25	CEBPB	chr12:752462-752951	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr12:754804-754917	K562	blood:	n/a	n/a
27	CEBPB	chr12:754688-754851	HepG2	liver:	n/a	n/a
28	CEBPB	chr12:752565-752727	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr12:755818-756101	HepG2	liver:	n/a	n/a
30	CEBPD	chr12:755761-756177	HepG2	liver:	n/a	n/a
31	CEBPD	chr12:757928-758322	K562	blood:	n/a	n/a
32	CHD1	chr12:752718-752817	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr12:751725-753716	GM12878	blood:	n/a	chr12:751750-751759
34	CHD2	chr12:752658-752777	K562	blood:	n/a	n/a
35	CHD2	chr12:752736-752790	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr12:752425-752426	K562	blood:	n/a	n/a
37	CHD2	chr12:755618-755943	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr12:751772-752855	GM12878	blood:	n/a	n/a
39	CHD2	chr12:751766-752686	Hela-S3	cervix:	n/a	n/a
40	CREB1	chr12:751723-752256	A549	lung:	n/a	n/a
41	CTCF	chr12:760180-760330	GM12864	blood:	n/a	n/a
42	CTCF	chr12:752240-752390	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr12:752240-752390	AG09319	gingival:	n/a	n/a
44	CTCF	chr12:752162-752493	IMR90	lung:	n/a	n/a
45	CTCF	chr12:752239-752519	GM10266	blood:	n/a	n/a
46	CTCF	chr12:752260-752410	RPTEC	kidney:	n/a	n/a
47	CTCF	chr12:752260-752410	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr12:752800-752950	GM06990	blood:	n/a	n/a
49	CTCF	chr12:752123-752573	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr12:752220-752370	HPAF	blood vessel:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:754911-754961	NH-A	brain:	n/a
2	chr12:752381-752431	HEEpiC	esophagus:	n/a
3	chr12:754911-754961	SKMC	muscle:	n/a
4	chr12:753199-753249	SK-N-MC	brain:	n/a
5	chr12:752381-752431	HUVEC	blood vessel:	n/a
6	chr12:752646-752696	AoSMC	blood vessel:	n/a
7	chr12:752646-752696	HRCEpiC	kidney:	n/a
8	chr12:752381-752431	AG04450	lung:	fetal
9	chr12:752381-752431	SK-N-SH_RA	brain:	n/a
10	chr12:752381-752431	PrEC	prostate:	n/a
11	chr12:752646-752696	K562	blood:	n/a
12	chr12:752381-752431	PANC-1	pancreas:	n/a
13	chr12:753199-753249	BE2_C	brain:	n/a
14	chr12:752290-752340	HIPEpiC	eye:	n/a
15	chr12:752290-752340	NH-A	brain:	n/a
16	chr12:752381-752431	PFSK-1	brain:	n/a
17	chr12:753199-753249	A549	lung:	n/a
18	chr12:753199-753249	AoSMC	blood vessel:	n/a
19	chr12:752290-752340	HCT-116	colon:	n/a
20	chr12:752646-752696	HCPEpiC	choroid plexus:	n/a
21	chr12:752646-752696	Caco-2	colon:	n/a
22	chr12:753199-753249	HCPEpiC	choroid plexus:	n/a
23	chr12:752290-752340	AG10803	skin:	n/a
24	chr12:752646-752696	AG04449	skin:	fetal
25	chr12:752381-752431	AG09309	skin:	n/a
26	chr12:752646-752696	AG10803	skin:	n/a
27	chr12:752381-752431	ECC-1	luminal epithelium:	n/a
28	chr12:753199-753249	SK-N-SH	brain:	n/a
29	chr12:752646-752696	Hepatocyte	liver:	n/a
30	chr12:752290-752340	AoSMC	blood vessel:	n/a
31	chr12:752646-752696	HEK293	kidney:	embryo
32	chr12:753199-753249	NB4	blood:	n/a
33	chr12:752381-752431	NT2-D1	testis:	n/a
34	chr12:753199-753249	HRCEpiC	kidney:	n/a
35	chr12:752646-752696	NT2-D1	testis:	n/a
36	chr12:752646-752696	SK-N-MC	brain:	n/a
37	chr12:754911-754961	RPTEC	kidney:	n/a
38	chr12:752381-752431	HRCEpiC	kidney:	n/a
39	chr12:752290-752340	SKMC	muscle:	n/a
40	chr12:752646-752696	HAEpiC	amniotic membrane:	n/a
41	chr12:754911-754961	GM06990	blood:	n/a
42	chr12:752646-752696	U87	brain:	n/a
43	chr12:753199-753249	LNCaP	prostate:	n/a
44	chr12:753199-753249	HUVEC	blood vessel:	n/a
45	chr12:752646-752696	AG04450	lung:	fetal
46	chr12:752290-752340	HCM	heart:	n/a
47	chr12:754911-754961	Jurkat	blood:	n/a
48	chr12:754911-754961	Hela-S3	cervix:	n/a
49	chr12:752290-752340	NHDF-neo	bronchial:	n/a
50	chr12:754911-754961	SK-N-SH_RA	brain:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:751953..754697-chr12:859970..862221,2	K562	blood:
2	chr12:746884..750259-chr12:756842..758934,3	K562	blood:
3	chr12:752026..753781-chr12:759419..761760,2	MCF-7	breast:
4	chr12:698993..700663-chr12:750297..752796,2	K562	blood:
5	chr12:754920..757056-chr12:790543..792765,2	K562	blood:
6	chr12:749727..757562-chr12:858273..868886,17	MCF-7	breast:
7	chr12:699726..702254-chr12:752995..755811,3	K562	blood:
8	chr12:750256..753677-chr12:768929..774136,4	MCF-7	breast:
9	chr12:699726..702254-chr12:752995..755811,2	K562	blood:
10	chr12:738549..743434-chr12:750658..753859,6	MCF-7	breast:
11	chr12:757767..759905-chr12:765159..766802,2	K562	blood:
12	chr12:752081..752621-chr15:68569750..68570655,2	HCT-116	colon:
13	chr12:508524..511172-chr12:751040..752702,2	MCF-7	breast:
14	chr12:756195..759652-chr12:773829..776440,3	MCF-7	breast:
15	chr12:761403..765074-chr12:770703..774398,3	MCF-7	breast:
16	chr12:753066..755991-chr20:52956460..52959168,2	MCF-7	breast:
17	chr12:748631..750707-chr12:754970..756942,2	MCF-7	breast:
18	chr12:739608..744885-chr12:750259..753818,8	MCF-7	breast:
19	chr12:751220..755551-chr12:860416..865761,8	K562	blood:
20	chr12:749128..755954-chr12:858463..864495,7	MCF-7	breast:
21	chr12:751801..754339-chr12:772154..775493,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B4GALNT3-2	chr12:753125-754636	NONHSAT025360
2	lnc-B4GALNT3-2	chr12:752147-752883	ENSG00000177406.4
3	lnc-B4GALNT3-2	chr12:753125-753516	NONHSAT025358
4	lnc-B4GALNT3-2	chr12:753125-755044	ENSG00000177406.4
5	lnc-B4GALNT3-2	chr12:753125-754581	ENSG00000177406.4
6	lnc-B4GALNT3-2	chr12:753125-753268	ENSG00000177406.4
7	lnc-KDM5A-5	chr12:752677-752851	NONHSAT025347
8	lnc-B4GALNT3-2	chr12:752514-753003	NONHSAT025360

No data

Variant related genes	Relation type
NINJ2	TF binding region
ENSG00000177406	TF binding region
NINJ2	CpG island
ENSG00000177406	CpG island
ENSG00000060237	chromatin interactions
ENSG00000260657	chromatin interactions
ENSG00000120647	chromatin interactions
ENSG00000255825	chromatin interactions
ENSG00000177406	chromatin interactions
ENSG00000169018	chromatin interactions
ENSG00000171840	chromatin interactions

Extended variants
information (count: 343 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2369393	chr12:751949-751950	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111932820	chr12:751964-751965	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs552681084	chr12:751981-751982	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs570514422	chr12:751984-751985	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs544074093	chr12:752086-752087	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs541269975	chr12:752092-752093	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs534820476	chr12:752127-752128	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs527733162	chr12:752181-752182	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
9	rs368283046	chr12:752202-752203	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs568031297	chr12:752205-752206	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs535396970	chr12:752209-752210	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs556519954	chr12:752218-752219	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs575232800	chr12:752252-752253	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs558243295	chr12:752273-752274	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs575408963	chr12:752319-752320	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
16	rs6489690	chr12:752327-752328	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs55800929	chr12:752360-752361	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs115303052	chr12:752395-752396	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs560022147	chr12:752415-752416	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs149445485	chr12:752420-752421	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
21	rs528752721	chr12:752438-752439	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
22	rs542591870	chr12:752450-752451	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
23	rs563524916	chr12:752459-752460	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
24	rs530538390	chr12:752472-752473	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
25	rs368511391	chr12:752477-752478	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
26	rs371838855	chr12:752520-752521	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
27	rs552343109	chr12:752533-752534	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
28	rs570948284	chr12:752553-752554	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
29	rs374940811	chr12:752555-752556	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
30	rs546376014	chr12:752586-752587	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
31	rs567944002	chr12:752597-752598	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
32	rs535362244	chr12:752685-752686	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
33	rs556843846	chr12:752764-752765	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs183548501	chr12:752784-752785	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs138463720	chr12:752834-752835	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs539438681	chr12:752849-752850	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs540269609	chr12:752863-752864	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs557531826	chr12:752911-752912	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs186357898	chr12:752912-752913	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs77113878	chr12:752934-752935	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs553595765	chr12:752938-752939	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs575133407	chr12:752971-752972	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs565242421	chr12:752997-752998	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
44	rs9669247	chr12:752998-752999	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	mRNA abundance
45	rs190910469	chr12:753022-753023	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs532693162	chr12:753045-753046	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs144865121	chr12:753064-753065	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs564349490	chr12:753086-753087	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs528546835	chr12:753155-753156	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
50	rs546727479	chr12:753161-753162	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:742400-752200	Weak transcription	Brain Substantia Nigra	brain
2	chr12:747400-752200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:747400-754000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:749400-752200	Weak transcription	HUVEC	blood vessel
5	chr12:749400-752400	Weak transcription	HSMMtube	muscle
6	chr12:750200-753200	Weak transcription	HepG2	liver
7	chr12:750400-752200	Weak transcription	NHEK	skin
8	chr12:750800-752200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:751200-752000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr12:751200-752200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:751200-752400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:751200-752400	Active TSS	Brain Hippocampus Middle	brain
13	chr12:751200-752400	Active TSS	Stomach Smooth Muscle	stomach
14	chr12:751200-752600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:751200-752600	Active TSS	Brain Anterior Caudate	brain
16	chr12:751200-752800	Active TSS	Brain Germinal Matrix	brain
17	chr12:751400-752000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr12:751400-752200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:751400-752200	Weak transcription	Spleen	Spleen
20	chr12:751400-752200	Weak transcription	K562	blood
21	chr12:751400-752400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr12:751400-752400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:751400-752400	Active TSS	Brain Cingulate Gyrus	brain
24	chr12:751400-752400	Active TSS	Fetal Muscle Leg	muscle
25	chr12:751400-752600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:751400-752600	Active TSS	Duodenum Mucosa	Duodenum
27	chr12:751400-752600	Active TSS	Fetal Intestine Small	intestine
28	chr12:751400-752600	Active TSS	Fetal Lung	lung
29	chr12:751400-752600	Active TSS	Fetal Stomach	stomach
30	chr12:751400-752600	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr12:751400-752800	Active TSS	Brain Angular Gyrus	brain
32	chr12:751400-753200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr12:751600-752000	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr12:751600-752000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:751600-752000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:751600-752200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:751600-752200	Weak transcription	Primary T cells from cord blood	blood
38	chr12:751600-752200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:751600-752200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:751600-752200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:751600-752200	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr12:751600-752400	Active TSS	H1 Cell Line	embryonic stem cell
43	chr12:751600-752400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:751600-752400	Active TSS	Adipose Nuclei	Adipose
45	chr12:751600-752400	Active TSS	Colonic Mucosa	Colon
46	chr12:751600-752400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr12:751600-752400	Active TSS	Placenta Amnion	Placenta Amnion
48	chr12:751600-752400	Active TSS	Rectal Smooth Muscle	rectum
49	chr12:751600-752400	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr12:751600-752400	Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links