Variant report

Variant	nsv1062039
Chromosome Location	chr22:29854861-29889201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:891)
CpG islands
(count:1161)
Chromatin interactive
region (count:55)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:891 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:29874677-29874753	K562	blood:	n/a	n/a
2	ATF1	chr22:29866399-29866713	K562	blood:	n/a	n/a
3	ATF1	chr22:29876859-29877274	K562	blood:	n/a	chr22:29877047-29877061
4	ATF2	chr22:29866249-29866840	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr22:29866348-29866798	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr22:29876824-29877313	H1-hESC	embryonic stem cell:	n/a	chr22:29877047-29877061
7	ATF3	chr22:29876895-29877255	K562	blood:	n/a	n/a
8	BACH1	chr22:29873953-29874359	K562	blood:	n/a	n/a
9	BACH1	chr22:29873931-29874298	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr22:29865736-29866729	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr22:29874505-29875008	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr22:29876282-29878043	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr22:29877630-29877960	K562	blood:	n/a	n/a
14	BATF	chr22:29872240-29872536	GM12878	blood:	n/a	n/a
15	BATF	chr22:29872228-29872571	GM12878	blood:	n/a	n/a
16	BHLHE40	chr22:29866494-29866668	GM12878	blood:	n/a	chr22:29866564-29866580
17	BHLHE40	chr22:29876615-29877342	K562	blood:	n/a	n/a
18	BHLHE40	chr22:29866439-29866628	K562	blood:	n/a	chr22:29866564-29866580
19	BHLHE40	chr22:29871734-29871824	GM12878	blood:	n/a	n/a
20	BHLHE40	chr22:29874650-29874757	K562	blood:	n/a	n/a
21	BRCA1	chr22:29876551-29877266	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr22:29866416-29866674	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr22:29866030-29866149	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr22:29866362-29866663	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr22:29876659-29877329	K562	blood:	n/a	n/a
26	CBX3	chr22:29876900-29877127	K562	blood:	n/a	n/a
27	CCNT2	chr22:29866404-29866693	K562	blood:	n/a	n/a
28	CCNT2	chr22:29876392-29876480	K562	blood:	n/a	n/a
29	CCNT2	chr22:29876839-29877354	K562	blood:	n/a	chr22:29877154-29877163
30	CCNT2	chr22:29877774-29877862	K562	blood:	n/a	chr22:29877810-29877819
31	CEBPB	chr22:29854561-29854870	A549	lung:	n/a	chr22:29854666-29854677
32	CEBPB	chr22:29861007-29861085	A549	lung:	n/a	chr22:29861062-29861073
33	CEBPB	chr22:29866422-29866622	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr22:29860381-29860566	HepG2	liver:	n/a	n/a
35	CEBPB	chr22:29854510-29854904	A549	lung:	n/a	chr22:29854666-29854677
36	CEBPB	chr22:29860981-29861232	IMR90	lung:	n/a	chr22:29861062-29861073
37	CEBPB	chr22:29860377-29860518	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr22:29854475-29854864	MCF-7	breast:	n/a	chr22:29854666-29854677
39	CEBPB	chr22:29860955-29861197	K562	blood:	n/a	chr22:29861062-29861073
40	CEBPB	chr22:29860994-29861400	HepG2	liver:	n/a	chr22:29861062-29861073
41	CEBPB	chr22:29854498-29854861	K562	blood:	n/a	chr22:29854666-29854677
42	CEBPB	chr22:29854535-29854863	HepG2	liver:	n/a	chr22:29854666-29854677
43	CEBPD	chr22:29868525-29868860	K562	blood:	n/a	n/a
44	CHD1	chr22:29866394-29866710	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr22:29866422-29866737	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr22:29877654-29877842	K562	blood:	n/a	n/a
47	CHD2	chr22:29876225-29876306	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr22:29876574-29877980	H1-hESC	embryonic stem cell:	n/a	chr22:29877153-29877163
49	CHD2	chr22:29866397-29866653	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr22:29876939-29877217	GM12878	blood:	n/a	chr22:29877153-29877163

(count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29876206-29876256	NT2-D1	testis:	n/a
2	chr22:29876534-29876584	AG10803	skin:	n/a
3	chr22:29876206-29876256	NT2-D1	testis:	n/a
4	chr22:29876534-29876584	AG10803	skin:	n/a
5	chr22:29876942-29876992	HRPEpiC	eye:	n/a
6	chr22:29876363-29876413	AG04450	lung:	fetal
7	chr22:29866414-29866464	HCPEpiC	choroid plexus:	n/a
8	chr22:29876363-29876413	Hepatocyte	liver:	n/a
9	chr22:29863270-29863320	HPAEpiC	pulmonary alveolar:	n/a
10	chr22:29876206-29876256	U87	brain:	n/a
11	chr22:29886713-29886763	HEK293	kidney:	embryo
12	chr22:29873338-29873388	BE2_C	brain:	n/a
13	chr22:29876363-29876413	HEEpiC	esophagus:	n/a
14	chr22:29873338-29873388	NB4	blood:	n/a
15	chr22:29886713-29886763	BJ	skin:	n/a
16	chr22:29876942-29876992	NT2-D1	testis:	n/a
17	chr22:29866414-29866464	BE2_C	brain:	n/a
18	chr22:29875947-29875997	AG09319	gingival:	n/a
19	chr22:29876942-29876992	HRCEpiC	kidney:	n/a
20	chr22:29886713-29886763	HCPEpiC	choroid plexus:	n/a
21	chr22:29875784-29875834	HepG2	liver:	n/a
22	chr22:29876945-29876995	AG09309	skin:	n/a
23	chr22:29867475-29867525	HRPEpiC	eye:	n/a
24	chr22:29870275-29870325	NH-A	brain:	n/a
25	chr22:29867475-29867525	HNPCEpiC	eye:	n/a
26	chr22:29875578-29875628	ovcar-3	ovarian:	n/a
27	chr22:29866414-29866464	HAEpiC	amniotic membrane:	n/a
28	chr22:29875578-29875628	ECC-1	luminal epithelium:	n/a
29	chr22:29866414-29866464	NB4	blood:	n/a
30	chr22:29875784-29875834	HEK293	kidney:	embryo
31	chr22:29876206-29876256	T-47D	breast:	n/a
32	chr22:29876363-29876413	BE2_C	brain:	n/a
33	chr22:29886713-29886763	HCF	heart:	n/a
34	chr22:29865064-29865114	HNPCEpiC	eye:	n/a
35	chr22:29876363-29876413	HEK293	kidney:	embryo
36	chr22:29867475-29867525	AG09309	skin:	n/a
37	chr22:29865064-29865114	GM12878	blood:	n/a
38	chr22:29875784-29875834	HCPEpiC	choroid plexus:	n/a
39	chr22:29875578-29875628	HRCEpiC	kidney:	n/a
40	chr22:29886713-29886763	NHDF-neo	bronchial:	n/a
41	chr22:29876534-29876584	HCF	heart:	n/a
42	chr22:29866624-29866674	LNCaP	prostate:	n/a
43	chr22:29866414-29866464	AG09319	gingival:	n/a
44	chr22:29863270-29863320	Jurkat	blood:	n/a
45	chr22:29875784-29875834	AG04449	skin:	fetal
46	chr22:29863270-29863320	HAEpiC	amniotic membrane:	n/a
47	chr22:29873338-29873388	HCPEpiC	choroid plexus:	n/a
48	chr22:29870275-29870325	HMEC	breast:	n/a
49	chr22:29866414-29866464	MCF-7	breast:	n/a
50	chr22:29875991-29876041	MCF10A-Er-Src	breast:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:29783197..29785326-chr22:29874558..29877420,2	MCF-7	breast:
2	chr22:29858710..29861591-chr22:29861924..29864616,2	K562	blood:
3	chr22:29783147..29785605-chr22:29854207..29856370,2	MCF-7	breast:
4	chr22:29876809..29879806-chr22:29881526..29883122,2	K562	blood:
5	chr22:29877350..29878233-chr22:29913108..29913740,2	MCF-7	breast:
6	chr22:29861087..29864747-chr22:29865747..29867984,3	K562	blood:
7	chr22:29876809..29879806-chr22:29881526..29883122,2	K562	blood:
8	chr22:29878566..29879231-chr22:29913094..29913812,2	MCF-7	breast:
9	chr22:29856440..29859200-chr22:29892109..29894504,2	MCF-7	breast:
10	chr22:29866168..29866984-chr22:29877594..29878224,2	K562	blood:
11	chr22:29878444..29879004-chr22:29913024..29913767,2	MCF-7	breast:
12	chr22:29865572..29868086-chr22:29877991..29879531,2	K562	blood:
13	chr22:29852290..29855034-chr22:29863929..29866105,2	MCF-7	breast:
14	chr22:29877043..29879359-chr22:29911623..29914922,6	MCF-7	breast:
15	chr22:29702481..29704174-chr22:29874105..29876353,2	K562	blood:
16	chr22:29873982..29876378-chr22:29880807..29882421,2	MCF-7	breast:
17	chr22:29877386..29878406-chr22:29912849..29914254,52	MCF-7	breast:
18	chr22:29880175..29882219-chr22:29882325..29884408,2	MCF-7	breast:
19	chr22:29880175..29882219-chr22:29882325..29884408,2	MCF-7	breast:
20	chr22:29866152..29869730-chr22:29872379..29875672,4	MCF-7	breast:
21	chr22:29858816..29860851-chr22:29864972..29867318,2	MCF-7	breast:
22	chr22:29877072..29879814-chr22:29891846..29894236,2	MCF-7	breast:
23	chr22:29663630..29665723-chr22:29877193..29880137,2	K562	blood:
24	chr22:29873715..29877046-chr22:29940798..29944268,3	K562	blood:
25	chr22:29865572..29868086-chr22:29877991..29879531,2	K562	blood:
26	chr22:29865857..29867643-chr22:29876448..29878393,2	MCF-7	breast:
27	chr22:29861087..29864747-chr22:29865747..29867984,3	K562	blood:
28	chr22:29781864..29782673-chr22:29877575..29878342,2	MCF-7	breast:
29	chr22:29886134..29888747-chr22:29893821..29896111,2	K562	blood:
30	chr22:29863203..29869053-chr22:29871800..29876725,7	K562	blood:
31	chr22:29877857..29880129-chr22:29887823..29890747,2	MCF-7	breast:
32	chr22:29857259..29859794-chr22:29863672..29866457,2	K562	blood:
33	chr22:29877857..29880129-chr22:29887823..29890747,2	MCF-7	breast:
34	chr22:29781578..29782726-chr22:29877337..29878344,7	MCF-7	breast:
35	chr22:29877541..29878058-chr22:29914348..29915105,2	MCF-7	breast:
36	chr22:29852290..29855034-chr22:29863929..29866105,2	MCF-7	breast:
37	chr22:29877412..29878391-chr22:29912701..29914203,38	MCF-7	breast:
38	chr22:29865160..29867687-chr22:29913906..29916895,2	MCF-7	breast:
39	chr22:29855896..29858129-chr22:29860085..29862045,2	K562	blood:
40	chr22:29858710..29861591-chr22:29861924..29864616,2	K562	blood:
41	chr22:29858816..29860851-chr22:29864972..29867318,2	MCF-7	breast:
42	chr22:29866353..29868086-chr22:29877604..29879531,2	K562	blood:
43	chr22:29857796..29860960-chr22:29861526..29863568,3	K562	blood:
44	chr22:29855896..29858129-chr22:29860085..29862045,2	K562	blood:
45	chr22:29857796..29860960-chr22:29861526..29863568,3	K562	blood:
46	chr22:29780492..29782846-chr22:29865528..29867159,2	MCF-7	breast:
47	chr22:29782475..29785188-chr22:29878200..29879873,2	MCF-7	breast:
48	chr22:29866353..29868086-chr22:29877604..29879531,2	K562	blood:
49	chr22:29792519..29794058-chr22:29864789..29867115,2	MCF-7	breast:
50	chr22:29859668..29861171-chr22:29911922..29914850,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP1B1-1	chr22:29868295-29868435	NONHSAT084700
2	lnc-AP1B1-1	chr22:29873999-29874133	NONHSAT084704
3	lnc-AP1B1-1	chr22:29868295-29868435	ENSG00000225465.6
4	lnc-AP1B1-1	chr22:29876241-29876321	NONHSAT084703
5	lnc-AP1B1-1	chr22:29864108-29864312	NONHSAT084707
6	lnc-THOC5-1	chr22:29867930-29868438	ENSG00000224381.1
7	lnc-AP1B1-1	chr22:29873999-29874164	ENSG00000225465.6
8	lnc-THOC5-1	chr22:29873999-29874059	ENSG00000224381.1
9	lnc-AP1B1-1	chr22:29864122-29864148	NONHSAT084706
10	lnc-AP1B1-1	chr22:29873999-29874115	NONHSAT084700

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	NEFH	hsa-miR-106b-5p	chr22:29887200-29887219

Variant related genes	Relation type
RFPL1S	TF binding region
NEFH	TF binding region
RFPL1S	CpG island
NEFH	CpG island
ENSG00000100263	chromatin interactions
ENSG00000225465	chromatin interactions
ENSG00000100280	chromatin interactions
ENSG00000100296	chromatin interactions
ENSG00000182944	chromatin interactions
ENSG00000100285	chromatin interactions
ENSG00000185340	chromatin interactions

Extended variants
information (count: 1512 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1512 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373100702	chr22:29854867-29854868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs372007914	chr22:29854868-29854869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187035806	chr22:29854874-29854875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7289240	chr22:29854959-29854960	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs557410078	chr22:29854961-29854962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575665543	chr22:29854997-29854998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539933829	chr22:29855033-29855034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557963758	chr22:29855034-29855035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573042364	chr22:29855050-29855051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540032897	chr22:29855208-29855209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562050403	chr22:29855252-29855253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201192057	chr22:29855275-29855276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs202119247	chr22:29855282-29855283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566286024	chr22:29855285-29855286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529104518	chr22:29855292-29855293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573614007	chr22:29855293-29855294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs9306464	chr22:29855327-29855328	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191720621	chr22:29855357-29855358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557361058	chr22:29855358-29855359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182774218	chr22:29855363-29855364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551499491	chr22:29855408-29855409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559968699	chr22:29855443-29855444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201120393	chr22:29855459-29855460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs34942280	chr22:29855466-29855467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546892016	chr22:29855479-29855480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs13053758	chr22:29855489-29855490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs536618025	chr22:29855490-29855491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551257225	chr22:29855496-29855497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371945693	chr22:29855497-29855498	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569317120	chr22:29855500-29855501	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539448028	chr22:29855515-29855516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200667167	chr22:29855520-29855521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556804403	chr22:29855531-29855532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573631284	chr22:29855553-29855554	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573241877	chr22:29855584-29855585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142981398	chr22:29855646-29855647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555165474	chr22:29855664-29855665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192796007	chr22:29855687-29855688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542464226	chr22:29855729-29855730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544139902	chr22:29855805-29855806	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559487758	chr22:29855815-29855816	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs115535810	chr22:29855834-29855835	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73405097	chr22:29855836-29855837	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544660278	chr22:29855854-29855855	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560058023	chr22:29855856-29855857	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527414282	chr22:29855874-29855875	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549014015	chr22:29855901-29855902	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562279006	chr22:29855928-29855929	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564505824	chr22:29855934-29855935	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529503737	chr22:29855937-29855938	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:953 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29836000-29859400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr22:29836200-29863200	Weak transcription	Fetal Brain Female	brain
3	chr22:29836600-29866000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr22:29844200-29856000	Weak transcription	Brain Angular Gyrus	brain
5	chr22:29845000-29856000	Weak transcription	Fetal Stomach	stomach
6	chr22:29847400-29864800	Weak transcription	Brain Germinal Matrix	brain
7	chr22:29850600-29855400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:29850600-29856200	Weak transcription	Fetal Intestine Small	intestine
9	chr22:29850600-29867200	Weak transcription	Ovary	ovary
10	chr22:29852600-29859600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:29852600-29859800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:29852800-29860000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr22:29853000-29856000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:29853200-29866200	Weak transcription	Right Atrium	heart
15	chr22:29853400-29855600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:29853400-29855800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29853400-29860000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:29853400-29860000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:29853600-29855800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:29855400-29856200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:29855600-29856400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:29855800-29856200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:29855800-29856200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr22:29855800-29856400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:29856000-29856200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:29856000-29856200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr22:29856000-29856200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr22:29856000-29856200	Enhancers	Brain Angular Gyrus	brain
29	chr22:29856200-29857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:29856200-29865600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr22:29857400-29857600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr22:29857600-29859400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:29857800-29858000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:29859400-29859600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:29859400-29859800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr22:29859400-29860000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:29859400-29860600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:29859600-29860200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr22:29859600-29860600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr22:29859600-29860600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr22:29859600-29865600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr22:29859800-29860000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr22:29859800-29860600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr22:29859800-29860600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr22:29860000-29860200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr22:29860000-29860200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr22:29860000-29860400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr22:29860000-29862600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr22:29860000-29865400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:29860600-29863400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links