Variant report

Variant	nsv521619
Chromosome Location	chr2:20098208-20150817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1072)
CpG islands
(count:1162)
Chromatin interactive
region (count:70)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1072 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:20098723-20099066	K562	blood:	n/a	n/a
2	ARID3A	chr2:20099673-20100704	K562	blood:	n/a	n/a
3	ARID3A	chr2:20101259-20102314	K562	blood:	n/a	n/a
4	ARID3A	chr2:20133080-20133737	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:20101245-20102078	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:20102812-20103143	K562	blood:	n/a	n/a
7	ATF1	chr2:20101350-20102179	K562	blood:	n/a	n/a
8	ATF2	chr2:20101177-20102073	GM12878	blood:	n/a	n/a
9	ATF2	chr2:20101218-20102059	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr2:20101372-20101943	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr2:20101087-20102284	GM12878	blood:	n/a	n/a
12	ATF3	chr2:20101308-20102066	K562	blood:	n/a	n/a
13	ATF3	chr2:20101234-20102362	A549	lung:	n/a	n/a
14	ATF3	chr2:20132972-20133733	A549	lung:	n/a	n/a
15	ATF3	chr2:20101119-20102339	A549	lung:	n/a	chr2:20101184-20101193
16	BACH1	chr2:20100920-20101289	K562	blood:	n/a	n/a
17	BACH1	chr2:20100933-20101975	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr2:20102956-20103155	GM12878	blood:	n/a	chr2:20103064-20103075 chr2:20103065-20103075
19	BATF	chr2:20101455-20102011	GM12878	blood:	n/a	n/a
20	BCL3	chr2:20100513-20102618	A549	lung:	n/a	chr2:20101437-20101450
21	BCL3	chr2:20132769-20133754	A549	lung:	n/a	chr2:20133149-20133158
22	BCL3	chr2:20100820-20102406	A549	lung:	n/a	chr2:20101437-20101450
23	BCLAF1	chr2:20101028-20102257	GM12878	blood:	n/a	chr2:20101437-20101450
24	BCLAF1	chr2:20100921-20102155	GM12878	blood:	n/a	chr2:20101437-20101450
25	BCLAF1	chr2:20099516-20100303	K562	blood:	n/a	n/a
26	BCLAF1	chr2:20100929-20102518	K562	blood:	n/a	chr2:20101437-20101450
27	BHLHE40	chr2:20099754-20099954	K562	blood:	n/a	n/a
28	BHLHE40	chr2:20100729-20100929	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:20101220-20101980	GM12878	blood:	n/a	chr2:20101778-20101794
30	BHLHE40	chr2:20101088-20102383	K562	blood:	n/a	chr2:20101778-20101794
31	BRCA1	chr2:20111597-20111997	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr2:20100825-20102336	Hela-S3	cervix:	n/a	chr2:20101760-20101769 chr2:20101452-20101461
33	BRCA1	chr2:20101011-20102130	GM12878	blood:	n/a	chr2:20101760-20101769 chr2:20101452-20101461
34	BRCA1	chr2:20101199-20102166	HepG2	liver:	n/a	chr2:20101760-20101769 chr2:20101452-20101461
35	BRCA1	chr2:20100858-20102324	H1-hESC	embryonic stem cell:	n/a	chr2:20101760-20101769 chr2:20101452-20101461
36	CBX3	chr2:20101385-20102073	K562	blood:	n/a	n/a
37	CBX3	chr2:20111462-20112132	HCT-116	colon:	n/a	n/a
38	CBX3	chr2:20101027-20102331	K562	blood:	n/a	n/a
39	CBX3	chr2:20127573-20127866	K562	blood:	n/a	n/a
40	CBX3	chr2:20127528-20127968	K562	blood:	n/a	n/a
41	CCNT2	chr2:20101051-20102060	K562	blood:	n/a	n/a
42	CEBPB	chr2:20132688-20133658	A549	lung:	n/a	chr2:20132748-20132759 chr2:20132856-20132867
43	CEBPB	chr2:20100678-20101096	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr2:20111480-20112056	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr2:20111458-20112042	MCF-7	breast:	n/a	n/a
46	CEBPB	chr2:20098809-20099052	K562	blood:	n/a	n/a
47	CEBPB	chr2:20111439-20112025	IMR90	lung:	n/a	n/a
48	CEBPB	chr2:20111372-20112289	HCT-116	colon:	n/a	n/a
49	CEBPB	chr2:20099660-20099665	K562	blood:	n/a	n/a
50	CEBPB	chr2:20111635-20111869	K562	blood:	n/a	n/a

(count:1162 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20103092-20103142	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:20111778-20111828	H1-hESC	embryonic stem cell:	embryo
3	chr2:20098931-20098981	Hela-S3	cervix:	n/a
4	chr2:20103092-20103142	HPAEpiC	pulmonary alveolar:	n/a
5	chr2:20111778-20111828	H1-hESC	embryonic stem cell:	embryo
6	chr2:20098931-20098981	Hela-S3	cervix:	n/a
7	chr2:20101793-20101843	ovcar-3	ovarian:	n/a
8	chr2:20103092-20103142	PrEC	prostate:	n/a
9	chr2:20101636-20101686	BE2_C	brain:	n/a
10	chr2:20101636-20101686	HCM	heart:	n/a
11	chr2:20101884-20101934	SK-N-SH_RA	brain:	n/a
12	chr2:20101788-20101838	A549	lung:	n/a
13	chr2:20101664-20101714	HIPEpiC	eye:	n/a
14	chr2:20101636-20101686	AG09309	skin:	n/a
15	chr2:20098931-20098981	BE2_C	brain:	n/a
16	chr2:20101919-20101969	LNCaP	prostate:	n/a
17	chr2:20144847-20144897	ovcar-3	ovarian:	n/a
18	chr2:20102066-20102116	HIPEpiC	eye:	n/a
19	chr2:20101961-20102011	GM19239	blood:	n/a
20	chr2:20111778-20111828	NT2-D1	testis:	n/a
21	chr2:20101943-20101993	AG09319	gingival:	n/a
22	chr2:20101884-20101934	AG10803	skin:	n/a
23	chr2:20101779-20101829	NT2-D1	testis:	n/a
24	chr2:20104329-20104379	HUVEC	blood vessel:	n/a
25	chr2:20101793-20101843	HRPEpiC	eye:	n/a
26	chr2:20101506-20101556	HEK293	kidney:	embryo
27	chr2:20101961-20102011	NHBE	bronchial:	n/a
28	chr2:20101931-20101981	AoSMC	blood vessel:	n/a
29	chr2:20101919-20101969	NB4	blood:	n/a
30	chr2:20101788-20101838	K562	blood:	n/a
31	chr2:20101793-20101843	HCPEpiC	choroid plexus:	n/a
32	chr2:20101779-20101829	MCF-7	breast:	n/a
33	chr2:20111778-20111828	NHDF-neo	bronchial:	n/a
34	chr2:20102066-20102116	GM12878	blood:	n/a
35	chr2:20101636-20101686	SAEC	small airway:	n/a
36	chr2:20133404-20133454	HepG2	liver:	n/a
37	chr2:20133404-20133454	GM12892	blood:	n/a
38	chr2:20101664-20101714	SK-N-SH	brain:	n/a
39	chr2:20111778-20111828	HepG2	liver:	n/a
40	chr2:20104329-20104379	ovcar-3	ovarian:	n/a
41	chr2:20101139-20101189	Hepatocyte	liver:	n/a
42	chr2:20101919-20101969	HL-60	blood:	n/a
43	chr2:20101931-20101981	MCF-7	breast:	n/a
44	chr2:20101919-20101969	GM12878	blood:	n/a
45	chr2:20101961-20102011	HMEC	breast:	n/a
46	chr2:20104329-20104379	SAEC	small airway:	n/a
47	chr2:20101779-20101829	SAEC	small airway:	n/a
48	chr2:20111778-20111828	SK-N-MC	brain:	n/a
49	chr2:20133404-20133454	HRE	kidney:	n/a
50	chr2:20101931-20101981	MCF10A-Er-Src	breast:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:20066730..20071387-chr2:20098933..20103374,5	MCF-7	breast:
2	chr2:20101080..20101636-chr5:65439827..65440416,2	HCT-116	colon:
3	chr2:20147964..20150748-chr2:20153485..20156219,3	K562	blood:
4	chr2:20100918..20104038-chr2:20105994..20109592,3	MCF-7	breast:
5	chr2:18615803..18618784-chr2:20102027..20103766,2	K562	blood:
6	chr2:20146475..20148422-chr2:20299562..20301684,2	K562	blood:
7	chr2:20100443..20102205-chr4:35495184..35498163,2	MCF-7	breast:
8	chr2:20039185..20041136-chr2:20098530..20100860,2	K562	blood:
9	chr2:20138877..20140913-chr2:20142589..20144773,2	MCF-7	breast:
10	chr2:20085889..20088843-chr2:20102352..20104719,3	MCF-7	breast:
11	chr2:20100548..20102171-chr2:20130981..20133231,2	MCF-7	breast:
12	chr15:71055917..71056560-chr2:20101389..20101997,2	Hela-S3	cervix:
13	chr2:20105349..20108747-chr2:20109149..20112309,3	MCF-7	breast:
14	chr2:20100261..20103746-chr2:20249026..20255152,7	K562	blood:
15	chr2:20105077..20106687-chr2:20188498..20191127,2	MCF-7	breast:
16	chr2:20110363..20112943-chr2:20112960..20116017,3	K562	blood:
17	chr2:20147509..20150475-chr2:20183236..20185493,2	MCF-7	breast:
18	chr2:20110141..20113047-chr2:20115173..20117476,2	MCF-7	breast:
19	chr2:20128853..20131612-chr2:20133463..20134985,2	K562	blood:
20	chr2:20100607..20103540-chr2:20114213..20116931,4	K562	blood:
21	chr2:20098547..20100110-chr2:20271638..20273548,2	MCF-7	breast:
22	chr2:20110363..20112943-chr2:20112960..20116017,3	K562	blood:
23	chr2:20101118..20105131-chr2:20134643..20136584,3	K562	blood:
24	chr1:28907796..28908626-chr2:20101327..20102014,2	Hela-S3	cervix:
25	chr2:20101619..20102190-chr6:41755232..41755955,2	Hela-S3	cervix:
26	chr17:56708451..56709206-chr2:20101725..20102240,2	Hela-S3	cervix:
27	chr2:20099946..20102449-chr2:20132225..20134655,2	MCF-7	breast:
28	chr12:120729434..120729987-chr2:20101733..20102281,2	Hela-S3	cervix:
29	chr2:20131153..20134079-chr2:20137920..20140711,2	MCF-7	breast:
30	chr2:20101745..20102377-chr2:88927286..88928267,2	Hela-S3	cervix:
31	chr2:20099947..20101798-chr4:35496664..35498184,2	K562	blood:
32	chr2:17848995..17851226-chr2:20098701..20100587,2	K562	blood:
33	chr2:18740138..18743092-chr2:20100674..20102788,2	MCF-7	breast:
34	chr2:20099721..20101368-chr2:20204158..20205910,2	K562	blood:
35	chr2:20100497..20102224-chr2:20133593..20135139,2	MCF-7	breast:
36	chr2:20100249..20101997-chr2:20113372..20115180,2	MCF-7	breast:
37	chr2:20068379..20070681-chr2:20098849..20101144,2	MCF-7	breast:
38	chr2:20101059..20101595-chr2:44222918..44223626,2	Hela-S3	cervix:
39	chr2:20136956..20138570-chr2:20139864..20142025,2	K562	blood:
40	chr2:20138877..20140913-chr2:20142589..20144773,2	MCF-7	breast:
41	chr2:20101371..20103225-chr2:20137366..20140099,2	K562	blood:
42	chr2:20101248..20101831-chr20:2505073..2505680,2	Hela-S3	cervix:
43	chr2:20131153..20134079-chr2:20137920..20140711,2	MCF-7	breast:
44	chr2:20128853..20131612-chr2:20133463..20134985,2	K562	blood:
45	chr2:20101039..20101818-chr4:103790051..103790670,2	Hela-S3	cervix:
46	chr2:20101141..20101930-chr7:44529626..44530595,2	NB4	blood:
47	chr2:20136956..20138570-chr2:20139864..20142025,2	K562	blood:
48	chr2:20099362..20101593-chr2:20136841..20138803,2	MCF-7	breast:
49	chr2:20123825..20126159-chr2:20127978..20130172,2	K562	blood:
50	chr19:57791183..57791865-chr2:20100452..20101040,2	Hela-S3	cervix:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOB-16	chr2:20129758-20129802	l_1785_chr2:20125022-20129802_testes
2	lnc-MATN3-1	chr2:20147933-20147978	NONHSAT069415
3	lnc-RHOB-16	chr2:20125023-20125288	l_1785_chr2:20125022-20129802_testes
4	lnc-MATN3-2	chr2:20127098-20127753	NONHSAT069414
5	lnc-RHOB-17	chr2:20101786-20102330	ENSG00000271991.1

No data

Variant related genes	Relation type
TTC32	TF binding region
ENSG00000271991	TF binding region
TTC32	CpG island
ENSG00000271991	CpG island
ENSG00000214736	chromatin interactions
ENSG00000271991	chromatin interactions
ENSG00000055917	chromatin interactions
ENSG00000206665	chromatin interactions
ENSG00000015676	chromatin interactions
ENSG00000197989	chromatin interactions
ENSG00000100504	chromatin interactions
ENSG00000197714	chromatin interactions
ENSG00000223734	chromatin interactions
ENSG00000227210	chromatin interactions
ENSG00000138095	chromatin interactions
ENSG00000109332	chromatin interactions
ENSG00000118965	chromatin interactions
ENSG00000228784	chromatin interactions
ENSG00000137831	chromatin interactions
ENSG00000234028	chromatin interactions
ENSG00000240857	chromatin interactions
ENSG00000088876	chromatin interactions
ENSG00000115884	chromatin interactions
ENSG00000068697	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000110200	chromatin interactions
ENSG00000145354	chromatin interactions
ENSG00000173545	chromatin interactions
ENSG00000183891	chromatin interactions
ENSG00000261360	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000154124	chromatin interactions
ENSG00000153914	chromatin interactions
ENSG00000250588	chromatin interactions
ENSG00000267871	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 1925 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1925 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16987218	chr2:20098208-20098209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537986456	chr2:20098212-20098213	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs112780956	chr2:20098220-20098221	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs78380962	chr2:20098242-20098243	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs568195786	chr2:20098365-20098366	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs183980674	chr2:20098379-20098380	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs188574844	chr2:20098480-20098481	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs577081803	chr2:20098486-20098487	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs151095336	chr2:20098521-20098522	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs558529937	chr2:20098532-20098533	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs16987220	chr2:20098561-20098562	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192042877	chr2:20098603-20098604	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs141058758	chr2:20098625-20098626	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs75634569	chr2:20098676-20098677	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs182732239	chr2:20098696-20098697	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs570270871	chr2:20098741-20098742	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs187021394	chr2:20098904-20098905	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs376557030	chr2:20098927-20098928	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs552199331	chr2:20098936-20098937	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs575983244	chr2:20098951-20098952	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs191558089	chr2:20099006-20099007	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs74665606	chr2:20099008-20099009	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs184407722	chr2:20099010-20099011	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs111606097	chr2:20099034-20099035	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs533712907	chr2:20099057-20099058	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs547576371	chr2:20099074-20099075	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs145885858	chr2:20099165-20099166	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs115834835	chr2:20099179-20099180	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs189387733	chr2:20099189-20099190	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs558517102	chr2:20099224-20099225	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs150735583	chr2:20099225-20099226	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs555466556	chr2:20099260-20099261	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs201890661	chr2:20099314-20099315	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs113679538	chr2:20099356-20099357	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs141537454	chr2:20099374-20099375	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs35152115	chr2:20099437-20099438	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs537873106	chr2:20099441-20099442	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs397696238	chr2:20099442-20099443	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs554732979	chr2:20099443-20099444	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs574887365	chr2:20099445-20099446	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs540426858	chr2:20099497-20099498	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs554392867	chr2:20099501-20099502	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs540692539	chr2:20099593-20099594	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs193127833	chr2:20099606-20099607	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs71391743	chr2:20099632-20099633	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs147036534	chr2:20099670-20099671	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs562445597	chr2:20099684-20099685	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs200220705	chr2:20099823-20099824	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs185673890	chr2:20099856-20099857	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs189308857	chr2:20099875-20099876	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1661 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20076800-20098400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:20076800-20099800	Weak transcription	Fetal Intestine Large	intestine
3	chr2:20079200-20098600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:20079800-20099000	Weak transcription	Thymus	Thymus
5	chr2:20086600-20099800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:20088000-20099600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:20089800-20099800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:20090600-20098400	Weak transcription	Right Ventricle	heart
9	chr2:20091000-20098400	Weak transcription	HSMM	muscle
10	chr2:20092200-20098800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:20092600-20099600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:20092600-20100400	Weak transcription	Lung	lung
13	chr2:20093000-20099800	Enhancers	Liver	Liver
14	chr2:20094000-20099600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:20094200-20099600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:20094200-20099600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:20094200-20100000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:20094600-20100200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:20094800-20099600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr2:20095000-20099800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:20095200-20099800	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:20095400-20099600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:20095600-20098400	Weak transcription	Placenta	Placenta
24	chr2:20095600-20099800	Weak transcription	HSMMtube	muscle
25	chr2:20095800-20099600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:20095800-20099800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:20096000-20100000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:20096200-20100000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:20096600-20099600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:20096600-20099800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:20096800-20099800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:20096800-20099800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:20097000-20099800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:20097000-20099800	Enhancers	Brain Hippocampus Middle	brain
35	chr2:20097000-20099800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr2:20097200-20098400	Genic enhancers	Primary B cells from cord blood	blood
37	chr2:20097200-20098400	Enhancers	Aorta	Aorta
38	chr2:20097200-20098600	Enhancers	Psoas Muscle	Psoas
39	chr2:20097200-20098600	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr2:20097200-20098800	Flanking Active TSS	Fetal Brain Female	brain
41	chr2:20097200-20099000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:20097200-20099000	Enhancers	Left Ventricle	heart
43	chr2:20097200-20099000	Enhancers	Small Intestine	intestine
44	chr2:20097200-20099200	Enhancers	Brain Angular Gyrus	brain
45	chr2:20097200-20099200	Enhancers	Brain Cingulate Gyrus	brain
46	chr2:20097200-20099200	Enhancers	Ovary	ovary
47	chr2:20097200-20099200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr2:20097200-20099600	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr2:20097200-20099800	Enhancers	Adipose Nuclei	Adipose
50	chr2:20097200-20099800	Enhancers	Fetal Brain Male	brain

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