Variant report

Variant	nsv3593
Chromosome Location	chr22:30705980-30751122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1325)
CpG islands
(count:855)
Chromatin interactive
region (count:105)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1325 , 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	ATF2	chr22:30710881-30711358	GM12878	blood:	n/a	n/a
3	ATF2	chr22:30705779-30706765	GM12878	blood:	n/a	n/a
4	ATF2	chr22:30710779-30711368	GM12878	blood:	n/a	n/a
5	BACH1	chr22:30722688-30722752	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr22:30743585-30743866	GM12878	blood:	n/a	n/a
7	BATF	chr22:30744817-30745212	GM12878	blood:	n/a	chr22:30745019-30745030
8	BATF	chr22:30744904-30745117	GM12878	blood:	n/a	chr22:30745019-30745030
9	BATF	chr22:30710843-30711219	GM12878	blood:	n/a	chr22:30711058-30711069
10	BATF	chr22:30743561-30743817	GM12878	blood:	n/a	n/a
11	BATF	chr22:30710814-30711310	GM12878	blood:	n/a	chr22:30711058-30711069
12	BATF	chr22:30706139-30706455	GM12878	blood:	n/a	n/a
13	BCL11A	chr22:30706145-30706438	GM12878	blood:	n/a	n/a
14	BCL11A	chr22:30710891-30711177	GM12878	blood:	n/a	n/a
15	BCL11A	chr22:30705929-30706512	GM12878	blood:	n/a	n/a
16	BCL11A	chr22:30710856-30711292	GM12878	blood:	n/a	n/a
17	BCL3	chr22:30710862-30711227	GM12878	blood:	n/a	n/a
18	BCL3	chr22:30723031-30723383	A549	lung:	n/a	n/a
19	BCLAF1	chr22:30710726-30711362	GM12878	blood:	n/a	n/a
20	BCLAF1	chr22:30710844-30711259	GM12878	blood:	n/a	n/a
21	BCLAF1	chr22:30705881-30706658	GM12878	blood:	n/a	n/a
22	BCLAF1	chr22:30705717-30706657	GM12878	blood:	n/a	n/a
23	BHLHE40	chr22:30721356-30721649	K562	blood:	n/a	chr22:30721537-30721550 chr22:30721540-30721549 chr22:30721539-30721548 chr22:30721539-30721548
24	BHLHE40	chr22:30722660-30722860	K562	blood:	n/a	n/a
25	BHLHE40	chr22:30710875-30711427	GM12878	blood:	n/a	chr22:30711184-30711197
26	BHLHE40	chr22:30712357-30712479	GM12878	blood:	n/a	n/a
27	BHLHE40	chr22:30710982-30711311	K562	blood:	n/a	chr22:30711184-30711197
28	BHLHE40	chr22:30722320-30723274	GM12878	blood:	n/a	chr22:30723102-30723118 chr22:30722920-30722936
29	BRCA1	chr22:30723121-30723307	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr22:30722666-30722767	GM12878	blood:	n/a	n/a
31	CBX3	chr22:30707997-30708706	HCT-116	colon:	n/a	n/a
32	CCNT2	chr22:30724080-30724254	K562	blood:	n/a	n/a
33	CCNT2	chr22:30722547-30723323	K562	blood:	n/a	chr22:30722972-30722981 chr22:30723083-30723092
34	CEBPB	chr22:30712842-30713557	IMR90	lung:	n/a	n/a
35	CEBPB	chr22:30705739-30706921	GM12878	blood:	n/a	n/a
36	CEBPB	chr22:30747390-30747610	A549	lung:	n/a	chr22:30747484-30747495
37	CEBPB	chr22:30723951-30724319	H1-hESC	embryonic stem cell:	n/a	chr22:30724181-30724192
38	CEBPB	chr22:30724099-30724328	Hela-S3	cervix:	n/a	chr22:30724181-30724192
39	CEBPB	chr22:30706259-30706757	IMR90	lung:	n/a	n/a
40	CEBPB	chr22:30715031-30715033	K562	blood:	n/a	n/a
41	CEBPB	chr22:30732817-30733014	HepG2	liver:	n/a	n/a
42	CEBPB	chr22:30724009-30724382	K562	blood:	n/a	chr22:30724181-30724192
43	CEBPB	chr22:30747368-30747632	IMR90	lung:	n/a	chr22:30747484-30747495
44	CEBPB	chr22:30708102-30708533	IMR90	lung:	n/a	chr22:30708222-30708234
45	CEBPB	chr22:30724015-30724323	IMR90	lung:	n/a	chr22:30724181-30724192
46	CEBPB	chr22:30706293-30706742	MCF-7	breast:	n/a	n/a
47	CEBPB	chr22:30747368-30747644	HepG2	liver:	n/a	chr22:30747484-30747495
48	CEBPB	chr22:30712869-30713569	HepG2	liver:	n/a	n/a
49	CEBPB	chr22:30724027-30724343	HepG2	liver:	n/a	chr22:30724181-30724192
50	CEBPB	chr22:30712885-30713068	HepG2	liver:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30723217-30723267	HAEpiC	amniotic membrane:	n/a
2	chr22:30723217-30723267	HAEpiC	amniotic membrane:	n/a
3	chr22:30722865-30722915	NT2-D1	testis:	n/a
4	chr22:30721636-30721686	NB4	blood:	n/a
5	chr22:30749857-30749907	Hepatocyte	liver:	n/a
6	chr22:30721543-30721593	NT2-D1	testis:	n/a
7	chr22:30723212-30723262	HRCEpiC	kidney:	n/a
8	chr22:30721543-30721593	T-47D	breast:	n/a
9	chr22:30736610-30736660	AG09319	gingival:	n/a
10	chr22:30728510-30728560	GM12891	blood:	n/a
11	chr22:30723363-30723413	SKMC	muscle:	n/a
12	chr22:30736610-30736660	HL-60	blood:	n/a
13	chr22:30721543-30721593	HMEC	breast:	n/a
14	chr22:30720496-30720546	HCF	heart:	n/a
15	chr22:30722594-30722644	Caco-2	colon:	n/a
16	chr22:30725357-30725407	CMK	blood:	n/a
17	chr22:30728510-30728560	AG09319	gingival:	n/a
18	chr22:30728510-30728560	HepG2	liver:	n/a
19	chr22:30728510-30728560	HCT-116	colon:	n/a
20	chr22:30722865-30722915	HCPEpiC	choroid plexus:	n/a
21	chr22:30722331-30722381	NT2-D1	testis:	n/a
22	chr22:30723212-30723262	NT2-D1	testis:	n/a
23	chr22:30736610-30736660	SK-N-MC	brain:	n/a
24	chr22:30736610-30736660	RPTEC	kidney:	n/a
25	chr22:30720496-30720546	A549	lung:	n/a
26	chr22:30721636-30721686	HRCEpiC	kidney:	n/a
27	chr22:30749857-30749907	PANC-1	pancreas:	n/a
28	chr22:30721636-30721686	AG09309	skin:	n/a
29	chr22:30722594-30722644	BE2_C	brain:	n/a
30	chr22:30722331-30722381	PANC-1	pancreas:	n/a
31	chr22:30722865-30722915	AG09319	gingival:	n/a
32	chr22:30722331-30722381	RPTEC	kidney:	n/a
33	chr22:30720496-30720546	SK-N-MC	brain:	n/a
34	chr22:30721636-30721686	NT2-D1	testis:	n/a
35	chr22:30725357-30725407	AG10803	skin:	n/a
36	chr22:30723212-30723262	A549	lung:	n/a
37	chr22:30723363-30723413	H1-hESC	embryonic stem cell:	embryo
38	chr22:30722594-30722644	GM12892	blood:	n/a
39	chr22:30723125-30723175	AG09309	skin:	n/a
40	chr22:30728510-30728560	NHBE	bronchial:	n/a
41	chr22:30722865-30722915	HRE	kidney:	n/a
42	chr22:30722594-30722644	AG04449	skin:	fetal
43	chr22:30728510-30728560	SK-N-SH_RA	brain:	n/a
44	chr22:30720496-30720546	HepG2	liver:	n/a
45	chr22:30723217-30723267	PFSK-1	brain:	n/a
46	chr22:30722331-30722381	SK-N-MC	brain:	n/a
47	chr22:30722865-30722915	ProgFib	skin:	n/a
48	chr22:30722594-30722644	SAEC	small airway:	n/a
49	chr22:30749857-30749907	HEEpiC	esophagus:	n/a
50	chr22:30721636-30721686	AoSMC	blood vessel:	n/a

(count:105 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
2	chr22:30745032..30748539-chr22:30782671..30786348,3	MCF-7	breast:
3	chr22:30729301..30730817-chr22:30750203..30752944,2	K562	blood:
4	chr22:30746190..30749063-chr22:30751031..30752671,2	K562	blood:
5	chr22:30710168..30712716-chr22:30726036..30728244,2	MCF-7	breast:
6	chr22:30733302..30736055-chr22:30750553..30752956,2	K562	blood:
7	chr22:30733497..30738627-chr22:30739549..30742352,7	K562	blood:
8	chr22:30682564..30684281-chr22:30744844..30747333,2	MCF-7	breast:
9	chr22:30730281..30734311-chr22:30742898..30745201,3	MCF-7	breast:
10	chr22:30684944..30687538-chr22:30739118..30741799,2	MCF-7	breast:
11	chr22:30716894..30719257-chr22:30719729..30722601,2	MCF-7	breast:
12	chr22:30736285..30738437-chr22:30751447..30754136,2	K562	blood:
13	chr22:30707446..30709068-chr22:30751443..30753192,2	MCF-7	breast:
14	chr22:30720496..30722809-chr22:30723809..30726893,3	MCF-7	breast:
15	chr22:30732348..30737677-chr22:30750921..30755238,7	MCF-7	breast:
16	chr22:30715105..30720415-chr22:30721123..30724883,5	MCF-7	breast:
17	chr22:30678847..30680505-chr22:30720237..30722502,2	MCF-7	breast:
18	chr22:30706784..30711096-chr22:30720189..30724317,4	K562	blood:
19	chr22:30721434..30723843-chr22:30737479..30740425,2	K562	blood:
20	chr22:30742977..30744840-chr22:30750667..30752552,2	K562	blood:
21	chr22:30720936..30724991-chr22:30750350..30754449,10	MCF-7	breast:
22	chr22:30730281..30734311-chr22:30742898..30745201,3	MCF-7	breast:
23	chr22:30712771..30715254-chr22:30752580..30754854,2	MCF-7	breast:
24	chr22:30679226..30682000-chr22:30723679..30728534,4	K562	blood:
25	chr22:30711964..30715013-chr22:30717133..30720994,3	K562	blood:
26	chr22:30715065..30719307-chr22:30719404..30722412,5	K562	blood:
27	chr22:30641352..30643505-chr22:30721621..30724253,3	MCF-7	breast:
28	chr22:30721941..30724645-chr22:30725200..30726744,2	K562	blood:
29	chr22:30743396..30745762-chr22:30751227..30753350,3	MCF-7	breast:
30	chr22:30733497..30736082-chr22:30739249..30742350,4	K562	blood:
31	chr22:30715065..30718690-chr22:30719404..30722127,4	K562	blood:
32	chr22:30704378..30708150-chr22:30709982..30712337,3	MCF-7	breast:
33	chr22:30734936..30741101-chr22:30743730..30750150,7	K562	blood:
34	chr22:30710430..30716803-chr22:30717996..30724228,10	MCF-7	breast:
35	chr22:30742935..30744847-chr22:30751446..30753348,3	MCF-7	breast:
36	chr22:30736285..30738543-chr22:30751447..30754136,3	K562	blood:
37	chr22:30740000..30742543-chr22:30750600..30752817,3	MCF-7	breast:
38	chr22:30656777..30659153-chr22:30723216..30725905,2	MCF-7	breast:
39	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
40	chr22:30740000..30742543-chr22:30750600..30752817,3	MCF-7	breast:
41	chr22:30702121..30703718-chr22:30704175..30706917,2	K562	blood:
42	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
43	chr22:30704378..30708150-chr22:30709982..30712337,3	MCF-7	breast:
44	chr22:30722829..30724775-chr22:30819297..30822266,2	MCF-7	breast:
45	chr22:30732348..30737677-chr22:30750921..30755238,7	MCF-7	breast:
46	chr22:30743157..30744840-chr22:30750667..30752921,2	K562	blood:
47	chr22:30722006..30724246-chr22:30752442..30754508,2	K562	blood:
48	chr22:30672847..30675715-chr22:30716721..30718257,2	MCF-7	breast:
49	chr22:30728274..30730328-chr22:30731097..30733421,3	MCF-7	breast:
50	chr22:30721434..30723843-chr22:30737479..30740425,2	K562	blood:

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
CCDC157	TF binding region
SF3A1	TF binding region
TBC1D10A	TF binding region
CCDC157	CpG island
SF3A1	CpG island
TBC1D10A	CpG island
ENSG00000187860	chromatin interactions
ENSG00000099999	chromatin interactions
ENSG00000239282	chromatin interactions
ENSG00000248751	chromatin interactions
ENSG00000099992	chromatin interactions
ENSG00000128342	chromatin interactions
ENSG00000268812	chromatin interactions
ENSG00000099995	chromatin interactions
ENSG00000242114	chromatin interactions

Extended variants
information (count: 1648 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1648 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540595394	chr22:30705981-30705982	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs546891400	chr22:30706003-30706004	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs560428821	chr22:30706004-30706005	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs185340672	chr22:30706058-30706059	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542817396	chr22:30706072-30706073	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561321990	chr22:30706178-30706179	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531873905	chr22:30706179-30706180	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs149221928	chr22:30706204-30706205	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs566639381	chr22:30706248-30706249	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs561953103	chr22:30706308-30706309	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs532574457	chr22:30706325-30706326	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs190148737	chr22:30706414-30706415	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs5997607	chr22:30706454-30706455	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs74576360	chr22:30706472-30706473	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs140139946	chr22:30706532-30706533	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs114665044	chr22:30706581-30706582	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537177044	chr22:30706589-30706590	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs555787376	chr22:30706610-30706611	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs558389819	chr22:30706627-30706628	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs368523838	chr22:30706640-30706641	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs576836279	chr22:30706653-30706654	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs534325202	chr22:30706666-30706667	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs552505509	chr22:30706681-30706682	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572454258	chr22:30706700-30706701	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs372158312	chr22:30706804-30706805	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs182833708	chr22:30706825-30706826	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs542905080	chr22:30706826-30706827	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs376844730	chr22:30706831-30706832	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs368779950	chr22:30706871-30706872	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs561563977	chr22:30706888-30706889	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs146954559	chr22:30706953-30706954	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs138046647	chr22:30706958-30706959	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs565253101	chr22:30706980-30706981	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs187730283	chr22:30706988-30706989	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs9620969	chr22:30706995-30706996	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs193235721	chr22:30707027-30707028	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs559772689	chr22:30707044-30707045	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs541746000	chr22:30707071-30707072	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs548164283	chr22:30707083-30707084	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs569904870	chr22:30707092-30707093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs536866889	chr22:30707158-30707159	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs183993919	chr22:30707215-30707216	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs570216712	chr22:30707234-30707235	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs534410893	chr22:30707316-30707317	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs552591132	chr22:30707328-30707329	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs567703078	chr22:30707433-30707434	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs564626464	chr22:30707547-30707548	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs187981037	chr22:30707605-30707606	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs35775588	chr22:30707617-30707618	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs533556581	chr22:30707653-30707654	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 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:2350 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30686200-30720000	Weak transcription	Fetal Brain Male	brain
2	chr22:30686800-30707200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:30687400-30706800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr22:30691000-30706800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:30695400-30706800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:30697400-30712200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:30698800-30707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:30699200-30706200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr22:30699600-30706200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr22:30699600-30715600	Weak transcription	Fetal Brain Female	brain
11	chr22:30699800-30710000	Weak transcription	HepG2	liver
12	chr22:30699800-30711600	Enhancers	Stomach Mucosa	stomach
13	chr22:30700000-30710000	Enhancers	HMEC	breast
14	chr22:30700200-30712000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr22:30700200-30712600	Enhancers	Primary hematopoietic stem cells	blood
16	chr22:30700400-30706200	Weak transcription	Brain Germinal Matrix	brain
17	chr22:30700400-30710000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:30700400-30714400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr22:30700600-30711200	Enhancers	Placenta	Placenta
20	chr22:30701000-30706800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:30701400-30709200	Enhancers	Fetal Kidney	kidney
22	chr22:30701800-30706000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr22:30702000-30706200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr22:30702000-30706600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr22:30702000-30706600	Enhancers	Colonic Mucosa	Colon
26	chr22:30702000-30707400	Enhancers	NHEK	skin
27	chr22:30702200-30706000	Weak transcription	HSMMtube	muscle
28	chr22:30702200-30706400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr22:30702200-30706400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr22:30702200-30707000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr22:30702400-30706000	Enhancers	Rectal Smooth Muscle	rectum
32	chr22:30702400-30706200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:30702400-30706200	Enhancers	Duodenum Mucosa	Duodenum
34	chr22:30702400-30706200	Weak transcription	Hela-S3	cervix
35	chr22:30702400-30706600	Enhancers	Adipose Nuclei	Adipose
36	chr22:30702400-30707200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:30702600-30706000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr22:30702600-30706800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr22:30702600-30706800	Weak transcription	Fetal Intestine Large	intestine
40	chr22:30702800-30709200	Enhancers	Right Atrium	heart
41	chr22:30702800-30709400	Enhancers	Pancreas	Pancrea
42	chr22:30702800-30710200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr22:30702800-30712400	Enhancers	Left Ventricle	heart
44	chr22:30702800-30713000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr22:30702800-30713200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:30702800-30714800	Enhancers	Spleen	Spleen
47	chr22:30703000-30706000	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr22:30703000-30706800	Weak transcription	A549	lung
49	chr22:30703000-30709800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr22:30703200-30709400	Enhancers	Esophagus	oesophagus

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