Variant report

Variant	esv3386707
Chromosome Location	chr1:226249329-226251427
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	chr1:226249679-226249931	K562	blood:	n/a	n/a
2	ARID3A	chr1:226250384-226250550	HepG2	liver:	n/a	chr1:226250522-226250537
3	ARID3A	chr1:226251344-226252882	HepG2	liver:	n/a	chr1:226251729-226251745
4	ARID3A	chr1:226249576-226249828	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:226251302-226252938	K562	blood:	n/a	chr1:226251729-226251745
6	ATF2	chr1:226249279-226249753	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:226250837-226251535	GM12878	blood:	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	chr1:226250328-226251678	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
14	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
15	BHLHE40	chr1:226250478-226250744	K562	blood:	n/a	chr1:226250672-226250688
16	BHLHE40	chr1:226249907-226251686	GM12878	blood:	n/a	chr1:226250158-226250174 chr1:226250433-226250449 chr1:226250436-226250452 chr1:226250672-226250688
17	BHLHE40	chr1:226250974-226251229	K562	blood:	n/a	n/a
18	BHLHE40	chr1:226249718-226250240	K562	blood:	n/a	chr1:226250158-226250174
19	BRCA1	chr1:226250345-226250724	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr1:226249546-226249913	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr1:226251060-226251260	H1-hESC	embryonic stem cell:	n/a	n/a
22	CBX3	chr1:226249345-226250868	HCT-116	colon:	n/a	n/a
23	CBX3	chr1:226248850-226251279	K562	blood:	n/a	chr1:226251053-226251064
24	CCNT2	chr1:226249369-226251710	K562	blood:	n/a	chr1:226250029-226250038 chr1:226250871-226250880
25	CEBPB	chr1:226249282-226249946	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr1:226250378-226250941	Hela-S3	cervix:	n/a	n/a
27	CEBPD	chr1:226249594-226250007	HepG2	liver:	n/a	n/a
28	CEBPD	chr1:226250304-226250549	HepG2	liver:	n/a	n/a
29	CEBPD	chr1:226250319-226250720	K562	blood:	n/a	n/a
30	CEBPD	chr1:226249501-226250666	HepG2	liver:	n/a	n/a
31	CEBPD	chr1:226249306-226250922	K562	blood:	n/a	n/a
32	CEBPD	chr1:226249457-226250304	K562	blood:	n/a	n/a
33	CHD1	chr1:226249186-226249802	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr1:226249315-226249979	GM12878	blood:	n/a	n/a
35	CHD1	chr1:226250403-226253054	GM12878	blood:	n/a	chr1:226250686-226250696 chr1:226250759-226250769
36	CHD1	chr1:226250340-226253168	H1-hESC	embryonic stem cell:	n/a	chr1:226250686-226250696 chr1:226250759-226250769
37	CHD1	chr1:226248795-226252344	IMR90	lung:	n/a	chr1:226250205-226250215 chr1:226250686-226250696 chr1:226250156-226250166 chr1:226250759-226250769 chr1:226250029-226250039
38	CHD2	chr1:226249404-226250531	H1-hESC	embryonic stem cell:	n/a	chr1:226250205-226250215 chr1:226250156-226250166 chr1:226250029-226250039
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	chr1:226251238-226251286	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr1:226249696-226250529	HepG2	liver:	n/a	chr1:226250205-226250215 chr1:226250156-226250166 chr1:226250029-226250039
43	CHD2	chr1:226249206-226250906	K562	blood:	n/a	chr1:226250205-226250215 chr1:226250686-226250696 chr1:226250156-226250166 chr1:226250759-226250769 chr1:226250029-226250039
44	CHD2	chr1:226249348-226250904	Hela-S3	cervix:	n/a	chr1:226250205-226250215 chr1:226250686-226250696 chr1:226250156-226250166 chr1:226250759-226250769 chr1:226250029-226250039
45	CREB1	chr1:226249924-226250798	GM12878	blood:	n/a	n/a
46	CREB1	chr1:226249365-226250746	A549	lung:	n/a	n/a
47	CREB1	chr1:226249346-226250938	HepG2	liver:	n/a	n/a
48	CREB1	chr1:226249067-226250858	K562	blood:	n/a	n/a
49	CREB1	chr1:226249296-226250750	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr1:226249377-226250550	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226250361-226250411	SK-N-SH	brain:	n/a
2	chr1:226250361-226250411	SK-N-SH	brain:	n/a
3	chr1:226249809-226249859	MCF-7	breast:	n/a
4	chr1:226250437-226250487	GM12891	blood:	n/a
5	chr1:226251291-226251341	AG10803	skin:	n/a
6	chr1:226251224-226251274	GM06990	blood:	n/a
7	chr1:226251291-226251341	GM12878	blood:	n/a
8	chr1:226250437-226250487	SK-N-MC	brain:	n/a
9	chr1:226249809-226249859	PrEC	prostate:	n/a
10	chr1:226249809-226249859	A549	lung:	n/a
11	chr1:226249852-226249902	HL-60	blood:	n/a
12	chr1:226250361-226250411	HEEpiC	esophagus:	n/a
13	chr1:226250841-226250891	HRE	kidney:	n/a
14	chr1:226249811-226249861	Hepatocyte	liver:	n/a
15	chr1:226251224-226251274	SK-N-SH	brain:	n/a
16	chr1:226249811-226249861	CMK	blood:	n/a
17	chr1:226251224-226251274	LNCaP	prostate:	n/a
18	chr1:226250361-226250411	U87	brain:	n/a
19	chr1:226251003-226251053	AG10803	skin:	n/a
20	chr1:226250437-226250487	GM12892	blood:	n/a
21	chr1:226249703-226249753	ProgFib	skin:	n/a
22	chr1:226250437-226250487	HUVEC	blood vessel:	n/a
23	chr1:226250431-226250481	HNPCEpiC	eye:	n/a
24	chr1:226250361-226250411	HNPCEpiC	eye:	n/a
25	chr1:226250384-226250434	RPTEC	kidney:	n/a
26	chr1:226249816-226249866	NHDF-neo	bronchial:	n/a
27	chr1:226251224-226251274	HL-60	blood:	n/a
28	chr1:226249816-226249866	NB4	blood:	n/a
29	chr1:226250431-226250481	HPAEpiC	pulmonary alveolar:	n/a
30	chr1:226249811-226249861	HEEpiC	esophagus:	n/a
31	chr1:226250361-226250411	T-47D	breast:	n/a
32	chr1:226251224-226251274	A549	lung:	n/a
33	chr1:226249703-226249753	HepG2	liver:	n/a
34	chr1:226250384-226250434	Jurkat	blood:	n/a
35	chr1:226250443-226250493	AG04449	skin:	fetal
36	chr1:226251003-226251053	Hepatocyte	liver:	n/a
37	chr1:226249809-226249859	BJ	skin:	n/a
38	chr1:226250431-226250481	T-47D	breast:	n/a
39	chr1:226250431-226250481	HEEpiC	esophagus:	n/a
40	chr1:226249852-226249902	HRE	kidney:	n/a
41	chr1:226249408-226249458	AG10803	skin:	n/a
42	chr1:226249809-226249859	ovcar-3	ovarian:	n/a
43	chr1:226250443-226250493	BE2_C	brain:	n/a
44	chr1:226251003-226251053	ovcar-3	ovarian:	n/a
45	chr1:226251291-226251341	GM12892	blood:	n/a
46	chr1:226250361-226250411	GM06990	blood:	n/a
47	chr1:226250431-226250481	GM12891	blood:	n/a
48	chr1:226249809-226249859	NHBE	bronchial:	n/a
49	chr1:226250431-226250481	LNCaP	prostate:	n/a
50	chr1:226251003-226251053	GM12878	blood:	n/a

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

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	chr1:226249458-226249577	ENSG00000272562.1
4	lnc-C1orf55-2	chr1:226250042-226250212	NONHSAT009870
5	lnc-C1orf55-1	chr1:226249458-226249581	NONHSAT009868

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

Extended variants
information (count: 79 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	rs573761150	chr1:226250328-226250329	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
34	rs537005321	chr1:226250361-226250362	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
35	rs557036108	chr1:226250441-226250442	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
36	rs576896874	chr1:226250448-226250449	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
37	rs544221967	chr1:226250449-226250450	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
38	rs562336695	chr1:226250450-226250451	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
39	rs187973612	chr1:226250458-226250459	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
40	rs544930074	chr1:226250508-226250509	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
41	rs147478485	chr1:226250509-226250510	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
42	rs527449567	chr1:226250570-226250571	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
43	rs548752529	chr1:226250596-226250597	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
44	rs561875291	chr1:226250610-226250611	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
45	rs529367270	chr1:226250623-226250624	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
46	rs545608744	chr1:226250703-226250704	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
47	rs550991573	chr1:226250705-226250706	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
48	rs569115867	chr1:226250771-226250772	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs540128420	chr1:226250775-226250776	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs369531270	chr1:226250796-226250797	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 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:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226229800-226249400	Weak transcription	Spleen	Spleen
2	chr1:226232200-226249400	Weak transcription	Gastric	stomach
3	chr1:226244000-226249400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:226248200-226249400	Flanking Active TSS	Fetal Heart	heart
5	chr1:226248200-226249600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:226248200-226249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:226248200-226249600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr1:226248200-226253400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:226248600-226249400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:226248600-226249400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:226248600-226249400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:226248600-226249400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr1:226248600-226249400	Flanking Active TSS	Rectal Smooth Muscle	rectum
14	chr1:226248600-226249400	Flanking Active TSS	A549	lung
15	chr1:226248600-226249400	Flanking Active TSS	K562	blood
16	chr1:226248600-226249600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr1:226248600-226249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:226248600-226249800	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr1:226248800-226249400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:226248800-226249400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:226248800-226249400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:226248800-226249400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:226248800-226249400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:226248800-226249400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:226248800-226249400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:226248800-226249400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:226248800-226249400	Flanking Active TSS	Liver	Liver
28	chr1:226248800-226249400	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr1:226248800-226249400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:226248800-226249400	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr1:226248800-226249400	Flanking Active TSS	Fetal Kidney	kidney
32	chr1:226248800-226249400	Flanking Active TSS	Fetal Lung	lung
33	chr1:226248800-226249400	Active TSS	Right Atrium	heart
34	chr1:226248800-226249400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:226248800-226249400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr1:226248800-226249400	Flanking Active TSS	Thymus	Thymus
37	chr1:226248800-226249400	Flanking Active TSS	Hela-S3	cervix
38	chr1:226248800-226249400	Flanking Active TSS	HUVEC	blood vessel
39	chr1:226248800-226249600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr1:226248800-226249600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr1:226248800-226249600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr1:226248800-226249600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr1:226248800-226249600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr1:226248800-226249600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:226248800-226249600	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr1:226248800-226249600	Flanking Active TSS	Dnd41	blood
47	chr1:226248800-226252600	Active TSS	NH-A	brain
48	chr1:226248800-226252800	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr1:226248800-226252800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:226248800-226253000	Active TSS	NHLF	lung

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