Variant report

Variant	nsv984527
Chromosome Location	chr22:30698358-30732712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1319)
CpG islands
(count:734)
Chromatin interactive
region (count:84)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1319 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:30723854-30724440	K562	blood:	n/a	n/a
2	ATF1	chr22:30704612-30704849	K562	blood:	n/a	n/a
3	ATF2	chr22:30704419-30705066	GM12878	blood:	n/a	n/a
4	ATF2	chr22:30710779-30711368	GM12878	blood:	n/a	n/a
5	ATF2	chr22:30705779-30706765	GM12878	blood:	n/a	n/a
6	ATF2	chr22:30704354-30704968	GM12878	blood:	n/a	n/a
7	ATF2	chr22:30710881-30711358	GM12878	blood:	n/a	n/a
8	BACH1	chr22:30722688-30722752	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr22:30704455-30704886	GM12878	blood:	n/a	n/a
10	BATF	chr22:30710843-30711219	GM12878	blood:	n/a	chr22:30711058-30711069
11	BATF	chr22:30710814-30711310	GM12878	blood:	n/a	chr22:30711058-30711069
12	BATF	chr22:30704450-30704838	GM12878	blood:	n/a	n/a
13	BATF	chr22:30706139-30706455	GM12878	blood:	n/a	n/a
14	BCL11A	chr22:30705929-30706512	GM12878	blood:	n/a	n/a
15	BCL11A	chr22:30706145-30706438	GM12878	blood:	n/a	n/a
16	BCL11A	chr22:30704520-30704803	GM12878	blood:	n/a	n/a
17	BCL11A	chr22:30704393-30704846	GM12878	blood:	n/a	n/a
18	BCL11A	chr22:30710891-30711177	GM12878	blood:	n/a	n/a
19	BCL11A	chr22:30710856-30711292	GM12878	blood:	n/a	n/a
20	BCL3	chr22:30704436-30704862	GM12878	blood:	n/a	n/a
21	BCL3	chr22:30710862-30711227	GM12878	blood:	n/a	n/a
22	BCL3	chr22:30723031-30723383	A549	lung:	n/a	n/a
23	BCLAF1	chr22:30705717-30706657	GM12878	blood:	n/a	n/a
24	BCLAF1	chr22:30710726-30711362	GM12878	blood:	n/a	n/a
25	BCLAF1	chr22:30701401-30701960	GM12878	blood:	n/a	n/a
26	BCLAF1	chr22:30705881-30706658	GM12878	blood:	n/a	n/a
27	BCLAF1	chr22:30710844-30711259	GM12878	blood:	n/a	n/a
28	BHLHE40	chr22:30710875-30711427	GM12878	blood:	n/a	chr22:30711184-30711197
29	BHLHE40	chr22:30712357-30712479	GM12878	blood:	n/a	n/a
30	BHLHE40	chr22:30721356-30721649	K562	blood:	n/a	chr22:30721537-30721550 chr22:30721540-30721549 chr22:30721539-30721548 chr22:30721539-30721548
31	BHLHE40	chr22:30710982-30711311	K562	blood:	n/a	chr22:30711184-30711197
32	BHLHE40	chr22:30722660-30722860	K562	blood:	n/a	n/a
33	BHLHE40	chr22:30722320-30723274	GM12878	blood:	n/a	chr22:30723102-30723118 chr22:30722920-30722936
34	BRCA1	chr22:30722666-30722767	GM12878	blood:	n/a	n/a
35	BRCA1	chr22:30723121-30723307	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr22:30702113-30702243	Hela-S3	cervix:	n/a	n/a
37	CBX3	chr22:30707997-30708706	HCT-116	colon:	n/a	n/a
38	CCNT2	chr22:30724080-30724254	K562	blood:	n/a	n/a
39	CCNT2	chr22:30722547-30723323	K562	blood:	n/a	chr22:30722972-30722981 chr22:30723083-30723092
40	CEBPB	chr22:30723929-30724341	K562	blood:	n/a	chr22:30724181-30724192
41	CEBPB	chr22:30712885-30713068	HepG2	liver:	n/a	n/a
42	CEBPB	chr22:30701958-30702309	K562	blood:	n/a	n/a
43	CEBPB	chr22:30724027-30724343	HepG2	liver:	n/a	chr22:30724181-30724192
44	CEBPB	chr22:30698148-30698446	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr22:30704361-30704901	GM12878	blood:	n/a	n/a
46	CEBPB	chr22:30724099-30724328	Hela-S3	cervix:	n/a	chr22:30724181-30724192
47	CEBPB	chr22:30702010-30702215	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr22:30715031-30715033	K562	blood:	n/a	n/a
49	CEBPB	chr22:30724015-30724323	IMR90	lung:	n/a	chr22:30724181-30724192
50	CEBPB	chr22:30708102-30708533	IMR90	lung:	n/a	chr22:30708222-30708234

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30723217-30723267	HepG2	liver:	n/a
2	chr22:30721636-30721686	ProgFib	skin:	n/a
3	chr22:30723217-30723267	HepG2	liver:	n/a
4	chr22:30721636-30721686	ProgFib	skin:	n/a
5	chr22:30723125-30723175	A549	lung:	n/a
6	chr22:30723212-30723262	HRCEpiC	kidney:	n/a
7	chr22:30720496-30720546	ovcar-3	ovarian:	n/a
8	chr22:30722331-30722381	A549	lung:	n/a
9	chr22:30722594-30722644	HepG2	liver:	n/a
10	chr22:30722594-30722644	NB4	blood:	n/a
11	chr22:30721636-30721686	HCM	heart:	n/a
12	chr22:30723125-30723175	AG09309	skin:	n/a
13	chr22:30728510-30728560	PrEC	prostate:	n/a
14	chr22:30722331-30722381	HEEpiC	esophagus:	n/a
15	chr22:30722594-30722644	AG10803	skin:	n/a
16	chr22:30722331-30722381	GM06990	blood:	n/a
17	chr22:30721543-30721593	AoSMC	blood vessel:	n/a
18	chr22:30723125-30723175	HCT-116	colon:	n/a
19	chr22:30723363-30723413	SK-N-MC	brain:	n/a
20	chr22:30728510-30728560	SKMC	muscle:	n/a
21	chr22:30723125-30723175	HPAEpiC	pulmonary alveolar:	n/a
22	chr22:30723363-30723413	AG04449	skin:	fetal
23	chr22:30722865-30722915	HCT-116	colon:	n/a
24	chr22:30721543-30721593	AG09309	skin:	n/a
25	chr22:30722594-30722644	PFSK-1	brain:	n/a
26	chr22:30722331-30722381	RPTEC	kidney:	n/a
27	chr22:30723212-30723262	Hela-S3	cervix:	n/a
28	chr22:30721636-30721686	SK-N-SH	brain:	n/a
29	chr22:30725357-30725407	BE2_C	brain:	n/a
30	chr22:30723217-30723267	HCM	heart:	n/a
31	chr22:30723212-30723262	NB4	blood:	n/a
32	chr22:30723217-30723267	Hela-S3	cervix:	n/a
33	chr22:30722594-30722644	SK-N-MC	brain:	n/a
34	chr22:30723212-30723262	PANC-1	pancreas:	n/a
35	chr22:30723212-30723262	ECC-1	luminal epithelium:	n/a
36	chr22:30723217-30723267	CMK	blood:	n/a
37	chr22:30720496-30720546	SAEC	small airway:	n/a
38	chr22:30723125-30723175	MCF10A-Er-Src	breast:	n/a
39	chr22:30723212-30723262	SK-N-SH	brain:	n/a
40	chr22:30723212-30723262	U87	brain:	n/a
41	chr22:30721636-30721686	GM12878	blood:	n/a
42	chr22:30723217-30723267	Caco-2	colon:	n/a
43	chr22:30725357-30725407	GM12892	blood:	n/a
44	chr22:30723212-30723262	H1-hESC	embryonic stem cell:	embryo
45	chr22:30722594-30722644	HIPEpiC	eye:	n/a
46	chr22:30721543-30721593	HRPEpiC	eye:	n/a
47	chr22:30720496-30720546	LNCaP	prostate:	n/a
48	chr22:30721636-30721686	HPAEpiC	pulmonary alveolar:	n/a
49	chr22:30723217-30723267	HPAEpiC	pulmonary alveolar:	n/a
50	chr22:30723217-30723267	Hepatocyte	liver:	n/a

(count:84 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:30732348..30737677-chr22:30750921..30755238,7	MCF-7	breast:
2	chr22:30715105..30720415-chr22:30721123..30724883,5	MCF-7	breast:
3	chr22:30723840..30727994-chr22:30728827..30733130,4	K562	blood:
4	chr22:30679226..30682000-chr22:30723679..30728534,4	K562	blood:
5	chr22:30710168..30712716-chr22:30726036..30728244,2	MCF-7	breast:
6	chr22:30692473..30695111-chr22:30722676..30724964,2	K562	blood:
7	chr22:30692849..30696422-chr22:30721996..30724187,4	MCF-7	breast:
8	chr22:30721780..30724167-chr22:30728041..30729954,3	MCF-7	breast:
9	chr22:30730281..30734311-chr22:30742898..30745201,3	MCF-7	breast:
10	chr22:30722829..30724775-chr22:30819297..30822266,2	MCF-7	breast:
11	chr22:30705519..30709851-chr22:30719624..30722955,4	MCF-7	breast:
12	chr22:30712323..30715013-chr22:30718534..30720994,2	K562	blood:
13	chr22:30702121..30703718-chr22:30704175..30706917,2	K562	blood:
14	chr22:30678847..30680505-chr22:30720237..30722502,2	MCF-7	breast:
15	chr22:30716894..30719257-chr22:30719729..30722601,2	MCF-7	breast:
16	chr22:30722860..30724693-chr22:30742029..30744821,2	K562	blood:
17	chr22:30692354..30698688-chr22:30699927..30704803,9	K562	blood:
18	chr22:30729301..30730817-chr22:30750203..30752944,2	K562	blood:
19	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
20	chr22:30679955..30682000-chr22:30725118..30726971,2	K562	blood:
21	chr22:30699910..30702358-chr22:30713888..30716292,3	MCF-7	breast:
22	chr22:30723840..30727994-chr22:30728827..30733130,4	K562	blood:
23	chr22:30701046..30703997-chr22:30721368..30724437,4	K562	blood:
24	chr22:30642799..30644915-chr22:30699451..30702374,2	MCF-7	breast:
25	chr22:30707446..30709068-chr22:30751443..30753192,2	MCF-7	breast:
26	chr22:30692354..30698688-chr22:30699927..30704803,9	K562	blood:
27	chr22:30710168..30712716-chr22:30726036..30728244,2	MCF-7	breast:
28	chr22:30732544..30735281-chr22:30742253..30745088,2	MCF-7	breast:
29	chr22:30719395..30724233-chr22:30750032..30754717,7	MCF-7	breast:
30	chr22:30704378..30708150-chr22:30709982..30712337,3	MCF-7	breast:
31	chr22:30692603..30694692-chr22:30708843..30711257,2	K562	blood:
32	chr22:30684159..30687302-chr22:30706702..30709797,3	MCF-7	breast:
33	chr22:30716894..30719257-chr22:30719729..30722601,2	MCF-7	breast:
34	chr22:30686895..30687732-chr22:30707081..30707981,2	MCF-7	breast:
35	chr22:30697815..30699936-chr22:30705927..30707445,2	K562	blood:
36	chr22:30698074..30701830-chr22:30707671..30711358,4	K562	blood:
37	chr22:30721434..30723843-chr22:30737479..30740425,2	K562	blood:
38	chr10:48572754..48573533-chr22:30701774..30702770,2	NB4	blood:
39	chr22:30720496..30722809-chr22:30723809..30726893,3	MCF-7	breast:
40	chr22:30712771..30715254-chr22:30752580..30754854,2	MCF-7	breast:
41	chr22:30647129..30650015-chr22:30704235..30707328,3	MCF-7	breast:
42	chr22:30715065..30718690-chr22:30719404..30722127,4	K562	blood:
43	chr22:30672847..30675715-chr22:30716721..30718257,2	MCF-7	breast:
44	chr22:30641352..30643505-chr22:30721621..30724253,3	MCF-7	breast:
45	chr22:30656777..30659153-chr22:30723216..30725905,2	MCF-7	breast:
46	chr22:30689707..30691265-chr22:30696967..30699657,2	K562	blood:
47	chr22:30701188..30702736-chr22:30752373..30753948,2	MCF-7	breast:
48	chr22:30701046..30703997-chr22:30721368..30724437,4	K562	blood:
49	chr22:30728274..30730328-chr22:30731097..30733421,3	MCF-7	breast:
50	chr22:30715065..30719307-chr22:30719404..30722412,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC157-2	chr22:30699374-30699462	NONHSAT084768
2	lnc-CCDC157-2	chr22:30698563-30698719	NONHSAT084768

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SF3A1	hsa-miR-193b-3p	chr22:30728223-30728246

Variant related genes	Relation type
ENSG00000248751	TF binding region
TBC1D10A	TF binding region
ENSG00000248751	CpG island
TBC1D10A	CpG island
ENSG00000239282	chromatin interactions
ENSG00000099992	chromatin interactions
ENSG00000099999	chromatin interactions
ENSG00000128342	chromatin interactions
ENSG00000248751	chromatin interactions
ENSG00000099995	chromatin interactions
ENSG00000268812	chromatin interactions
ENSG00000187860	chromatin interactions
ENSG00000242114	chromatin interactions

Extended variants
information (count: 1150 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1150 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141036134	chr22:30698414-30698415	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs150252692	chr22:30698415-30698416	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs188655440	chr22:30698424-30698425	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs373620652	chr22:30698439-30698440	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs536583616	chr22:30698444-30698445	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs181393113	chr22:30698500-30698501	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs73881433	chr22:30698528-30698529	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs367757602	chr22:30698566-30698567	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs371494768	chr22:30698577-30698578	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs139001205	chr22:30698603-30698604	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs558424282	chr22:30698643-30698644	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs368907399	chr22:30698648-30698649	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs576872575	chr22:30698666-30698667	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
14	rs571333904	chr22:30698718-30698719	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
15	rs140727484	chr22:30698745-30698746	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs540865057	chr22:30698798-30698799	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs552975494	chr22:30698809-30698810	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs185241705	chr22:30698813-30698814	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs145201414	chr22:30698823-30698824	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs538711677	chr22:30698904-30698905	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs561270734	chr22:30698907-30698908	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs189960573	chr22:30698969-30698970	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs544005267	chr22:30699005-30699006	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs180947313	chr22:30699050-30699051	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs532678273	chr22:30699085-30699086	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs5763939	chr22:30699086-30699087	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs149470547	chr22:30699087-30699088	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs1079227	chr22:30699128-30699129	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs548566389	chr22:30699175-30699176	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs34197772	chr22:30699182-30699183	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs569973006	chr22:30699198-30699199	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs536899493	chr22:30699200-30699201	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs552393564	chr22:30699212-30699213	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs143942869	chr22:30699230-30699231	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs148227110	chr22:30699257-30699258	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs562926051	chr22:30699278-30699279	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs141241294	chr22:30699283-30699284	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs72032113	chr22:30699286-30699287	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs535096708	chr22:30699287-30699288	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs201974523	chr22:30699291-30699292	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs187240645	chr22:30699295-30699296	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs377522077	chr22:30699296-30699297	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs3067179	chr22:30699298-30699299	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs200819864	chr22:30699299-30699300	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs12157860	chr22:30699303-30699304	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs71763570	chr22:30699315-30699316	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs545848194	chr22:30699317-30699318	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs564025493	chr22:30699328-30699329	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs3067181	chr22:30699330-30699331	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs113970119	chr22:30699331-30699332	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	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
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
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2252 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30686000-30700000	Weak transcription	Fetal Kidney	kidney
2	chr22:30686200-30720000	Weak transcription	Fetal Brain Male	brain
3	chr22:30686400-30701800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr22:30686600-30700600	Genic enhancers	Fetal Thymus	thymus
5	chr22:30686800-30701800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:30686800-30707200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:30687000-30699600	Strong transcription	Fetal Brain Female	brain
8	chr22:30687400-30701200	Weak transcription	K562	blood
9	chr22:30687400-30706800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:30687600-30699000	Weak transcription	HepG2	liver
11	chr22:30687600-30699800	Genic enhancers	Esophagus	oesophagus
12	chr22:30687600-30701400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:30688200-30698400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:30688200-30698600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:30688200-30699200	Strong transcription	Aorta	Aorta
16	chr22:30688200-30700600	Strong transcription	Fetal Stomach	stomach
17	chr22:30690200-30699000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr22:30690200-30700200	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr22:30690400-30700800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr22:30690800-30699800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr22:30690800-30701600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:30691000-30706800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:30692800-30700600	Genic enhancers	Placenta	Placenta
24	chr22:30693200-30701000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:30693400-30701800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr22:30694400-30700200	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr22:30694800-30700600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:30695200-30700400	Genic enhancers	Spleen	Spleen
29	chr22:30695400-30701000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:30695400-30706800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:30696200-30699200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
32	chr22:30696400-30700400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:30696400-30700400	Genic enhancers	Adipose Nuclei	Adipose
34	chr22:30696400-30701000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr22:30696400-30701200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:30696400-30703200	Enhancers	Brain Hippocampus Middle	brain
37	chr22:30696400-30703200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr22:30696600-30698600	Genic enhancers	Colon Smooth Muscle	Colon
39	chr22:30696600-30700400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr22:30696600-30700800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr22:30696600-30701000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:30696600-30701000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr22:30696600-30702400	Enhancers	Right Atrium	heart
44	chr22:30696800-30699800	Genic enhancers	Fetal Muscle Leg	muscle
45	chr22:30696800-30700400	Strong transcription	Brain Germinal Matrix	brain
46	chr22:30696800-30700800	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr22:30697000-30699600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr22:30697000-30699600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr22:30697000-30699800	Genic enhancers	Stomach Mucosa	stomach
50	chr22:30697000-30703600	Enhancers	Brain Substantia Nigra	brain

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