Variant report

Variant	esv3327023
Chromosome Location	chr1:226248854-226251702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:226250384-226250550	HepG2	liver:	n/a	chr1:226250522-226250537
2	ARID3A	chr1:226249576-226249828	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:226249679-226249931	K562	blood:	n/a	n/a
4	ARID3A	chr1:226251344-226252882	HepG2	liver:	n/a	chr1:226251729-226251745
5	ARID3A	chr1:226251302-226252938	K562	blood:	n/a	chr1:226251729-226251745
6	ATF2	chr1:226250837-226251535	GM12878	blood:	n/a	n/a
7	ATF2	chr1:226249279-226249753	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr1:226249432-226250210	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr1:226251303-226251404	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr1:226248969-226249540	K562	blood:	n/a	n/a
11	BCL3	chr1:226248997-226249732	A549	lung:	n/a	chr1:226249655-226249668 chr1:226249016-226249025
12	BCLAF1	chr1:226249142-226250288	K562	blood:	n/a	chr1:226249777-226249790 chr1:226249655-226249668 chr1:226249771-226249784 chr1:226249778-226249791 chr1:226250007-226250016
13	BCLAF1	chr1:226250361-226251203	K562	blood:	n/a	chr1:226250437-226250450 chr1:226250439-226250448 chr1:226250910-226250923 chr1:226250801-226250810 chr1:226250431-226250444 chr1:226250679-226250688 chr1:226250727-226250736 chr1:226250436-226250445
14	BCLAF1	chr1:226250328-226251678	GM12878	blood:	n/a	chr1:226250437-226250450 chr1:226250439-226250448 chr1:226250910-226250923 chr1:226250801-226250810 chr1:226250431-226250444 chr1:226250679-226250688 chr1:226250727-226250736 chr1:226250436-226250445 chr1:226251397-226251410
15	BHLHE40	chr1:226250478-226250744	K562	blood:	n/a	chr1:226250672-226250688
16	BHLHE40	chr1:226249718-226250240	K562	blood:	n/a	chr1:226250158-226250174
17	BHLHE40	chr1:226250974-226251229	K562	blood:	n/a	n/a
18	BHLHE40	chr1:226249907-226251686	GM12878	blood:	n/a	chr1:226250158-226250174 chr1:226250433-226250449 chr1:226250436-226250452 chr1:226250672-226250688
19	BRCA1	chr1:226251060-226251260	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr1:226249081-226249274	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr1:226250345-226250724	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr1:226249546-226249913	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr1:226249345-226250868	HCT-116	colon:	n/a	n/a
24	CBX3	chr1:226248850-226251279	K562	blood:	n/a	chr1:226251053-226251064
25	CCNT2	chr1:226249369-226251710	K562	blood:	n/a	chr1:226250029-226250038 chr1:226250871-226250880
26	CEBPB	chr1:226249282-226249946	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr1:226250378-226250941	Hela-S3	cervix:	n/a	n/a
28	CEBPD	chr1:226249457-226250304	K562	blood:	n/a	n/a
29	CEBPD	chr1:226249594-226250007	HepG2	liver:	n/a	n/a
30	CEBPD	chr1:226250304-226250549	HepG2	liver:	n/a	n/a
31	CEBPD	chr1:226249501-226250666	HepG2	liver:	n/a	n/a
32	CEBPD	chr1:226250319-226250720	K562	blood:	n/a	n/a
33	CEBPD	chr1:226249306-226250922	K562	blood:	n/a	n/a
34	CHD1	chr1:226249186-226249802	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr1:226248795-226252344	IMR90	lung:	n/a	chr1:226250205-226250215 chr1:226250686-226250696 chr1:226250156-226250166 chr1:226250759-226250769 chr1:226250029-226250039
36	CHD1	chr1:226249315-226249979	GM12878	blood:	n/a	n/a
37	CHD1	chr1:226250403-226253054	GM12878	blood:	n/a	chr1:226250686-226250696 chr1:226250759-226250769
38	CHD1	chr1:226250340-226253168	H1-hESC	embryonic stem cell:	n/a	chr1:226250686-226250696 chr1:226250759-226250769
39	CHD2	chr1:226249565-226251589	GM12878	blood:	n/a	chr1:226250205-226250215 chr1:226250686-226250696 chr1:226250156-226250166 chr1:226250759-226250769 chr1:226250029-226250039
40	CHD2	chr1:226251121-226251521	K562	blood:	n/a	n/a
41	CHD2	chr1:226249348-226250904	Hela-S3	cervix:	n/a	chr1:226250205-226250215 chr1:226250686-226250696 chr1:226250156-226250166 chr1:226250759-226250769 chr1:226250029-226250039
42	CHD2	chr1:226249404-226250531	H1-hESC	embryonic stem cell:	n/a	chr1:226250205-226250215 chr1:226250156-226250166 chr1:226250029-226250039
43	CHD2	chr1:226251238-226251286	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr1:226249696-226250529	HepG2	liver:	n/a	chr1:226250205-226250215 chr1:226250156-226250166 chr1:226250029-226250039
45	CHD2	chr1:226249206-226250906	K562	blood:	n/a	chr1:226250205-226250215 chr1:226250686-226250696 chr1:226250156-226250166 chr1:226250759-226250769 chr1:226250029-226250039
46	CREB1	chr1:226249365-226250746	A549	lung:	n/a	n/a
47	CREB1	chr1:226249924-226250798	GM12878	blood:	n/a	n/a
48	CREB1	chr1:226249377-226250550	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr1:226249346-226250938	HepG2	liver:	n/a	n/a
50	CREB1	chr1:226249067-226250858	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226249852-226249902	GM06990	blood:	n/a
2	chr1:226249852-226249902	GM06990	blood:	n/a
3	chr1:226249811-226249861	GM19239	blood:	n/a
4	chr1:226251291-226251341	PFSK-1	brain:	n/a
5	chr1:226249811-226249861	Hepatocyte	liver:	n/a
6	chr1:226249852-226249902	MCF-7	breast:	n/a
7	chr1:226250384-226250434	HepG2	liver:	n/a
8	chr1:226249703-226249753	HRE	kidney:	n/a
9	chr1:226250431-226250481	HEK293	kidney:	embryo
10	chr1:226251291-226251341	NB4	blood:	n/a
11	chr1:226249809-226249859	AG04450	lung:	fetal
12	chr1:226251003-226251053	A549	lung:	n/a
13	chr1:226251291-226251341	BE2_C	brain:	n/a
14	chr1:226249703-226249753	A549	lung:	n/a
15	chr1:226249811-226249861	HCF	heart:	n/a
16	chr1:226249816-226249866	PANC-1	pancreas:	n/a
17	chr1:226251291-226251341	PANC-1	pancreas:	n/a
18	chr1:226250361-226250411	HCF	heart:	n/a
19	chr1:226250384-226250434	MCF-7	breast:	n/a
20	chr1:226251224-226251274	HMEC	breast:	n/a
21	chr1:226249809-226249859	AG10803	skin:	n/a
22	chr1:226250361-226250411	NH-A	brain:	n/a
23	chr1:226250384-226250434	HEK293	kidney:	embryo
24	chr1:226251003-226251053	MCF-7	breast:	n/a
25	chr1:226249408-226249458	HRCEpiC	kidney:	n/a
26	chr1:226249811-226249861	HRCEpiC	kidney:	n/a
27	chr1:226249408-226249458	GM19239	blood:	n/a
28	chr1:226251003-226251053	AG04449	skin:	fetal
29	chr1:226249816-226249866	MCF10A-Er-Src	breast:	n/a
30	chr1:226250361-226250411	HCM	heart:	n/a
31	chr1:226251291-226251341	ECC-1	luminal epithelium:	n/a
32	chr1:226250443-226250493	GM19239	blood:	n/a
33	chr1:226249809-226249859	Hela-S3	cervix:	n/a
34	chr1:226249809-226249859	NH-A	brain:	n/a
35	chr1:226250437-226250487	AG04450	lung:	fetal
36	chr1:226249703-226249753	HEEpiC	esophagus:	n/a
37	chr1:226249408-226249458	AG04450	lung:	fetal
38	chr1:226250841-226250891	AG09319	gingival:	n/a
39	chr1:226249809-226249859	LNCaP	prostate:	n/a
40	chr1:226250437-226250487	GM12892	blood:	n/a
41	chr1:226251003-226251053	HEEpiC	esophagus:	n/a
42	chr1:226249811-226249861	AoSMC	blood vessel:	n/a
43	chr1:226249811-226249861	ovcar-3	ovarian:	n/a
44	chr1:226249811-226249861	Hela-S3	cervix:	n/a
45	chr1:226249408-226249458	HAEpiC	amniotic membrane:	n/a
46	chr1:226249408-226249458	GM12891	blood:	n/a
47	chr1:226251291-226251341	SAEC	small airway:	n/a
48	chr1:226249703-226249753	GM19239	blood:	n/a
49	chr1:226250361-226250411	ovcar-3	ovarian:	n/a
50	chr1:226251224-226251274	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:225964211..225968767-chr1:226248453..226252378,4	K562	blood:
2	chr1:226249843..226250705-chr7:100026281..100026883,3	NB4	blood:
3	chr1:226249721..226252045-chr1:226495735..226498532,3	K562	blood:
4	chr1:226250063..226250819-chr1:226271085..226271750,2	MCF-7	breast:
5	chr1:226251379..226253297-chr1:226374542..226377353,2	K562	blood:
6	chr1:226184876..226191468-chr1:226247585..226254254,12	MCF-7	breast:
7	chr1:226250046..226250889-chr6:26322132..26323073,2	NB4	blood:
8	chr1:226249387..226250153-chr17:27046599..27047373,2	Hela-S3	cervix:
9	chr1:226250229..226250841-chr22:41681736..41682584,2	Hela-S3	cervix:
10	chr1:226249823..226250541-chr10:120937882..120938711,2	HCT-116	colon:
11	chr1:225838732..225840997-chr1:226248323..226251215,2	MCF-7	breast:
12	chr1:226250042..226250975-chr7:123197373..123197919,2	Hela-S3	cervix:
13	chr1:225614646..225616665-chr1:226249352..226251446,2	K562	blood:
14	chr1:226247090..226249451-chr1:226292552..226294249,2	K562	blood:
15	chr1:226250436..226250975-chr3:171528336..171529225,2	Hela-S3	cervix:
16	chr1:226053730..226055639-chr1:226248303..226251048,2	MCF-7	breast:
17	chr1:226249432..226250174-chr19:50083021..50083902,2	Hela-S3	cervix:
18	chr1:226178791..226193771-chr1:226246813..226256535,111	K562	blood:
19	chr1:45284133..45286762-chr1:226249402..226251655,2	K562	blood:
20	chr1:226248851..226254336-chr1:226269112..226274282,12	MCF-7	breast:
21	chr1:144533790..144534425-chr1:226249029..226249552,2	Hela-S3	cervix:
22	chr1:226248937..226249745-chr3:135914572..135915298,2	Hela-S3	cervix:
23	chr1:226213068..226214895-chr1:226247410..226249127,2	K562	blood:
24	chr1:226186529..226187341-chr1:226250082..226250899,2	MCF-7	breast:
25	chr1:226249205..226249806-chr7:16685776..16686578,2	Hela-S3	cervix:
26	chr1:226249766..226250543-chr6:26216732..26217538,2	Hela-S3	cervix:
27	chr1:225839962..225842492-chr1:226249684..226252539,2	MCF-7	breast:
28	chr1:226186794..226187828-chr1:226250346..226251520,3	NB4	blood:
29	chr1:226249482..226250105-chr11:67777477..67778223,2	Hela-S3	cervix:
30	chr1:226250249..226250799-chr3:27525824..27526444,2	Hela-S3	cervix:
31	chr1:226249163..226250085-chr19:59010196..59010725,2	Hela-S3	cervix:
32	chr1:226183087..226192322-chr1:226243551..226254243,95	K562	blood:
33	chr1:226248544..226249126-chr1:226270839..226271352,2	Hela-S3	cervix:
34	chr1:226203662..226205459-chr1:226246341..226248870,2	MCF-7	breast:
35	chr1:226247784..226253760-chr1:226305545..226317702,29	MCF-7	breast:
36	chr1:226248789..226253333-chr1:226269675..226273948,8	MCF-7	breast:
37	chr1:225964614..225966521-chr1:226248789..226250672,2	K562	blood:
38	chr1:226249145..226251355-chr5:138634621..138637026,2	MCF-7	breast:
39	chr1:226247680..226258196-chr1:226306136..226315725,36	MCF-7	breast:
40	chr1:226183029..226192481-chr1:226247725..226253108,31	MCF-7	breast:
41	chr1:8938569..8939207-chr1:226250020..226250720,2	HCT-116	colon:
42	chr1:226250333..226250903-chr15:45490663..45491581,2	Hela-S3	cervix:
43	chr1:226250265..226250927-chr4:99916726..99917637,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf55-1	chr1:226245769-226249546	NONHSAT009869
2	lnc-C1orf55-2	chr1:226249649-226249836	NONHSAT009870
3	lnc-C1orf55-1	chr1:226249458-226249581	NONHSAT009868
4	lnc-C1orf55-1	chr1:226249458-226249577	ENSG00000272562.1
5	lnc-C1orf55-2	chr1:226250042-226250212	NONHSAT009870

Variant related genes	Relation type
H3F3A	TF binding region
ENSG00000272562	TF binding region
H3F3A	CpG island
ENSG00000272562	CpG island
ENSG00000074800	chromatin interactions
ENSG00000154380	chromatin interactions
ENSG00000183814	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000083807	chromatin interactions
ENSG00000199545	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000142546	chromatin interactions
ENSG00000136261	chromatin interactions
ENSG00000100401	chromatin interactions
ENSG00000198242	chromatin interactions
ENSG00000220875	chromatin interactions
ENSG00000075651	chromatin interactions
ENSG00000165672	chromatin interactions
ENSG00000174579	chromatin interactions
ENSG00000230679	chromatin interactions
ENSG00000128609	chromatin interactions
ENSG00000164024	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000143742	chromatin interactions
ENSG00000143815	chromatin interactions
ENSG00000143751	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000259932	chromatin interactions
ENSG00000223570	chromatin interactions
ENSG00000225518	chromatin interactions
ENSG00000033867	chromatin interactions
ENSG00000196187	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000270598	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000146834	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566399922	chr1:226248866-226248867	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
2	rs564242491	chr1:226248869-226248870	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
3	rs528154532	chr1:226248901-226248902	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs546664448	chr1:226248907-226248908	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs561657086	chr1:226248910-226248911	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs529212540	chr1:226248939-226248940	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
7	rs550847569	chr1:226248960-226248961	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
8	rs141507178	chr1:226249049-226249050	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
9	rs150803163	chr1:226249102-226249103	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
10	rs551269875	chr1:226249137-226249138	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
11	rs3834103	chr1:226249151-226249152	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
12	rs376001449	chr1:226249160-226249161	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
13	rs570973183	chr1:226249165-226249166	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
14	rs534987310	chr1:226249175-226249176	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
15	rs141278739	chr1:226249215-226249216	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
16	rs149512104	chr1:226249250-226249251	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
17	rs554998847	chr1:226249277-226249278	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
18	rs552961685	chr1:226249310-226249311	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
19	rs374418461	chr1:226249330-226249331	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
20	rs116271913	chr1:226249422-226249423	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
21	rs78034836	chr1:226249436-226249437	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
22	rs143986147	chr1:226249466-226249467	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
23	rs116702928	chr1:226249470-226249471	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
24	rs546407919	chr1:226249473-226249474	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
25	rs567456107	chr1:226249507-226249508	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
26	rs558064907	chr1:226249542-226249543	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
27	rs573014798	chr1:226249578-226249579	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
28	rs540289118	chr1:226249627-226249628	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs561670620	chr1:226249668-226249669	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
30	rs528863488	chr1:226249688-226249689	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
31	rs544192069	chr1:226249734-226249735	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
32	rs144758249	chr1:226249752-226249753	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
33	rs533054125	chr1:226249756-226249757	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
34	rs551594425	chr1:226249784-226249785	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
35	rs558621262	chr1:226249792-226249793	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
36	rs566509837	chr1:226249799-226249800	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
37	rs528570455	chr1:226249807-226249808	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
38	rs546664064	chr1:226249808-226249809	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
39	rs568130605	chr1:226249833-226249834	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
40	rs117658647	chr1:226249848-226249849	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
41	rs557057466	chr1:226249854-226249855	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
42	rs375345652	chr1:226249901-226249902	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
43	rs534720133	chr1:226249964-226249965	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
44	rs569582538	chr1:226249976-226249977	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
45	rs539733599	chr1:226250018-226250019	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
46	rs553288244	chr1:226250047-226250048	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
47	rs573427764	chr1:226250122-226250123	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
48	rs184029346	chr1:226250147-226250148	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
49	rs551461288	chr1:226250241-226250242	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
50	rs555465458	chr1:226250311-226250312	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226229800-226249400	Weak transcription	Spleen	Spleen
2	chr1:226230000-226249200	Weak transcription	Aorta	Aorta
3	chr1:226231200-226249200	Weak transcription	Pancreas	Pancrea
4	chr1:226232000-226249200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:226232200-226249400	Weak transcription	Gastric	stomach
6	chr1:226235200-226249200	Weak transcription	Small Intestine	intestine
7	chr1:226235400-226249200	Weak transcription	Esophagus	oesophagus
8	chr1:226238600-226249000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:226241000-226249200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:226242400-226249200	Weak transcription	Lung	lung
11	chr1:226242800-226249000	Weak transcription	Ovary	ovary
12	chr1:226242800-226249200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:226244000-226249400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:226246000-226249000	Weak transcription	Right Ventricle	heart
15	chr1:226246800-226249000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:226247600-226249200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:226247800-226249000	Enhancers	Psoas Muscle	Psoas
18	chr1:226248000-226249000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:226248000-226249000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:226248000-226249000	Enhancers	Fetal Muscle Leg	muscle
21	chr1:226248200-226249000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:226248200-226249000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:226248200-226249000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:226248200-226249000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:226248200-226249000	Enhancers	Colon Smooth Muscle	Colon
26	chr1:226248200-226249000	Enhancers	Placenta	Placenta
27	chr1:226248200-226249000	Enhancers	Fetal Stomach	stomach
28	chr1:226248200-226249000	Enhancers	Stomach Mucosa	stomach
29	chr1:226248200-226249200	Enhancers	Primary B cells from peripheral blood	blood
30	chr1:226248200-226249200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:226248200-226249200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr1:226248200-226249200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:226248200-226249400	Flanking Active TSS	Fetal Heart	heart
34	chr1:226248200-226249600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr1:226248200-226249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:226248200-226249600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr1:226248200-226253400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr1:226248400-226249000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:226248400-226249000	Weak transcription	Left Ventricle	heart
40	chr1:226248400-226249200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr1:226248600-226249000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:226248600-226249000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:226248600-226249000	Enhancers	Brain Angular Gyrus	brain
44	chr1:226248600-226249000	Enhancers	Brain Hippocampus Middle	brain
45	chr1:226248600-226249000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr1:226248600-226249000	Enhancers	Fetal Brain Male	brain
47	chr1:226248600-226249000	Flanking Active TSS	Fetal Brain Female	brain
48	chr1:226248600-226249000	Enhancers	HMEC	breast
49	chr1:226248600-226249200	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr1:226248600-226249200	Flanking Active TSS	HepG2	liver

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