Variant report

Variant	esv1848384
Chromosome Location	chr1:247485654-247495666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:746)
CpG islands
(count:733)
Chromatin interactive
region (count:30)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:247488292-247488581	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:247494273-247494419	HepG2	liver:	n/a	n/a
3	ATF2	chr1:247495024-247495360	GM12878	blood:	n/a	n/a
4	BACH1	chr1:247495653-247495861	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:247494488-247494689	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr1:247485810-247486059	GM12878	blood:	n/a	chr1:247485988-247485998
7	BCL3	chr1:247494952-247495314	GM12878	blood:	n/a	chr1:247495254-247495263 chr1:247495200-247495209 chr1:247495255-247495268
8	BCLAF1	chr1:247494977-247495394	GM12878	blood:	n/a	chr1:247495254-247495263 chr1:247495200-247495209 chr1:247495381-247495390 chr1:247495255-247495268 chr1:247495371-247495384
9	BCLAF1	chr1:247495483-247495909	GM12878	blood:	n/a	chr1:247495606-247495615 chr1:247495607-247495620 chr1:247495603-247495616 chr1:247495642-247495655 chr1:247495626-247495639
10	BCLAF1	chr1:247494942-247495457	GM12878	blood:	n/a	chr1:247495387-247495400 chr1:247495254-247495263 chr1:247495395-247495408 chr1:247495200-247495209 chr1:247495381-247495390 chr1:247495255-247495268 chr1:247495371-247495384
11	BCLAF1	chr1:247494902-247495858	K562	blood:	n/a	chr1:247495606-247495615 chr1:247495387-247495400 chr1:247495254-247495263 chr1:247495395-247495408 chr1:247495607-247495620 chr1:247495603-247495616 chr1:247495200-247495209 chr1:247495642-247495655 chr1:247495381-247495390 chr1:247495626-247495639 chr1:247495255-247495268 chr1:247495371-247495384
12	BHLHE40	chr1:247495097-247495885	HepG2	liver:	n/a	chr1:247495605-247495621
13	BHLHE40	chr1:247494347-247496575	K562	blood:	n/a	chr1:247495605-247495621 chr1:247494560-247494576
14	BHLHE40	chr1:247495077-247495898	GM12878	blood:	n/a	chr1:247495605-247495621
15	BHLHE40	chr1:247489847-247490047	GM12878	blood:	n/a	n/a
16	BHLHE40	chr1:247494389-247494732	GM12878	blood:	n/a	chr1:247494560-247494576
17	BRCA1	chr1:247495106-247495317	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr1:247494331-247494795	K562	blood:	n/a	n/a
19	CBX3	chr1:247495003-247497040	K562	blood:	n/a	n/a
20	CCNT2	chr1:247494234-247495919	K562	blood:	n/a	chr1:247495255-247495264
21	CEBPB	chr1:247495073-247495374	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr1:247487509-247487888	IMR90	lung:	n/a	chr1:247487690-247487701
23	CEBPB	chr1:247487524-247487772	HepG2	liver:	n/a	chr1:247487690-247487701
24	CEBPB	chr1:247487532-247487884	K562	blood:	n/a	chr1:247487690-247487701
25	CEBPB	chr1:247487538-247487863	HepG2	liver:	n/a	chr1:247487690-247487701
26	CEBPB	chr1:247487543-247487819	Hela-S3	cervix:	n/a	chr1:247487690-247487701
27	CEBPB	chr1:247487467-247487822	MCF-7	breast:	n/a	chr1:247487690-247487701
28	CEBPB	chr1:247494399-247494785	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr1:247487503-247487887	HepG2	liver:	n/a	chr1:247487690-247487701
30	CEBPB	chr1:247495579-247495920	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr1:247487519-247487765	A549	lung:	n/a	chr1:247487690-247487701
32	CEBPB	chr1:247487525-247487867	A549	lung:	n/a	chr1:247487690-247487701
33	CEBPB	chr1:247487500-247487902	HepG2	liver:	n/a	chr1:247487690-247487701
34	CEBPD	chr1:247487487-247487783	HepG2	liver:	n/a	n/a
35	CEBPD	chr1:247494873-247495460	HepG2	liver:	n/a	n/a
36	CHD1	chr1:247494405-247494924	GM12878	blood:	n/a	n/a
37	CHD1	chr1:247494529-247495213	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr1:247493780-247497114	IMR90	lung:	n/a	n/a
39	CHD1	chr1:247495179-247496161	GM12878	blood:	n/a	n/a
40	CHD2	chr1:247495162-247495374	K562	blood:	n/a	n/a
41	CHD2	chr1:247494387-247494905	GM12878	blood:	n/a	n/a
42	CHD2	chr1:247494651-247494848	K562	blood:	n/a	n/a
43	CHD2	chr1:247493666-247493747	K562	blood:	n/a	n/a
44	CHD2	chr1:247495107-247495869	GM12878	blood:	n/a	n/a
45	CHD2	chr1:247495210-247495388	HepG2	liver:	n/a	n/a
46	CHD2	chr1:247494539-247494612	HepG2	liver:	n/a	n/a
47	CHD2	chr1:247494427-247495874	Hela-S3	cervix:	n/a	n/a
48	CREB1	chr1:247494145-247495875	HepG2	liver:	n/a	n/a
49	CREB1	chr1:247494888-247495855	A549	lung:	n/a	n/a
50	CTBP2	chr1:247494201-247495929	H1-hESC	embryonic stem cell:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247495212-247495262	LNCaP	prostate:	n/a
2	chr1:247495212-247495262	LNCaP	prostate:	n/a
3	chr1:247494258-247494308	AoSMC	blood vessel:	n/a
4	chr1:247494983-247495033	HEK293	kidney:	embryo
5	chr1:247491708-247491758	PANC-1	pancreas:	n/a
6	chr1:247494258-247494308	NHBE	bronchial:	n/a
7	chr1:247495212-247495262	PANC-1	pancreas:	n/a
8	chr1:247491708-247491758	SK-N-MC	brain:	n/a
9	chr1:247494708-247494758	HCPEpiC	choroid plexus:	n/a
10	chr1:247491708-247491758	LNCaP	prostate:	n/a
11	chr1:247494767-247494817	ProgFib	skin:	n/a
12	chr1:247494983-247495033	HRPEpiC	eye:	n/a
13	chr1:247491708-247491758	MCF-7	breast:	n/a
14	chr1:247494926-247494976	IMR90	lung:	fetal
15	chr1:247494708-247494758	HUVEC	blood vessel:	n/a
16	chr1:247491708-247491758	NB4	blood:	n/a
17	chr1:247494983-247495033	NHBE	bronchial:	n/a
18	chr1:247493476-247493526	HEK293	kidney:	embryo
19	chr1:247494250-247494300	PrEC	prostate:	n/a
20	chr1:247492858-247492908	PANC-1	pancreas:	n/a
21	chr1:247494708-247494758	BJ	skin:	n/a
22	chr1:247495250-247495300	Jurkat	blood:	n/a
23	chr1:247494926-247494976	U87	brain:	n/a
24	chr1:247495250-247495300	HIPEpiC	eye:	n/a
25	chr1:247495212-247495262	AoSMC	blood vessel:	n/a
26	chr1:247494250-247494300	HEEpiC	esophagus:	n/a
27	chr1:247495212-247495262	HCT-116	colon:	n/a
28	chr1:247494767-247494817	K562	blood:	n/a
29	chr1:247494428-247494478	H1-hESC	embryonic stem cell:	embryo
30	chr1:247494428-247494478	HUVEC	blood vessel:	n/a
31	chr1:247494428-247494478	RPTEC	kidney:	n/a
32	chr1:247495212-247495262	HUVEC	blood vessel:	n/a
33	chr1:247495250-247495300	AG09309	skin:	n/a
34	chr1:247491708-247491758	GM12878	blood:	n/a
35	chr1:247494767-247494817	HUVEC	blood vessel:	n/a
36	chr1:247494926-247494976	SAEC	small airway:	n/a
37	chr1:247493476-247493526	HEEpiC	esophagus:	n/a
38	chr1:247493476-247493526	GM12891	blood:	n/a
39	chr1:247492858-247492908	Caco-2	colon:	n/a
40	chr1:247493476-247493526	SAEC	small airway:	n/a
41	chr1:247494926-247494976	HIPEpiC	eye:	n/a
42	chr1:247493476-247493526	GM12892	blood:	n/a
43	chr1:247494250-247494300	GM12878	blood:	n/a
44	chr1:247492858-247492908	HCPEpiC	choroid plexus:	n/a
45	chr1:247494983-247495033	ECC-1	luminal epithelium:	n/a
46	chr1:247495250-247495300	RPTEC	kidney:	n/a
47	chr1:247494926-247494976	HNPCEpiC	eye:	n/a
48	chr1:247494767-247494817	Caco-2	colon:	n/a
49	chr1:247494767-247494817	Hepatocyte	liver:	n/a
50	chr1:247494926-247494976	GM19239	blood:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247495212..247495870-chr7:102715654..102716186,2	Hela-S3	cervix:
2	chr1:247495103..247495785-chr11:66056230..66056965,2	Hela-S3	cervix:
3	chr1:247373865..247374385-chr1:247494539..247495272,2	NB4	blood:
4	chr1:247371907..247375145-chr1:247492885..247497524,4	MCF-7	breast:
5	chr1:247484098..247486215-chr1:247495440..247497543,2	K562	blood:
6	chr1:247492758..247493504-chr8:104033164..104034039,2	Hela-S3	cervix:
7	chr1:247493116..247494744-chr1:248019396..248022076,3	K562	blood:
8	chr1:247479235..247481801-chr1:247485562..247488525,3	K562	blood:
9	chr1:247456296..247458047-chr1:247490288..247491803,2	K562	blood:
10	chr1:247484098..247486215-chr1:247495440..247497543,2	K562	blood:
11	chr1:247371506..247373896-chr1:247494793..247496492,2	K562	blood:
12	chr1:247495432..247495974-chr10:77162497..77163288,2	Hela-S3	cervix:
13	chr1:247371861..247375582-chr1:247493463..247496360,5	MCF-7	breast:
14	chr1:247495202..247495979-chr14:105219028..105219965,2	Hela-S3	cervix:
15	chr1:247093791..247096097-chr1:247493835..247497465,5	K562	blood:
16	chr1:247266988..247268956-chr1:247494459..247496057,2	MCF-7	breast:
17	chr1:247367024..247369929-chr1:247491044..247493190,2	MCF-7	breast:
18	chr1:247473800..247482682-chr1:247490121..247498423,19	K562	blood:
19	chr1:247465500..247467787-chr1:247483881..247486302,2	K562	blood:
20	chr1:247495187..247496810-chr1:247522265..247524064,2	K562	blood:
21	chr1:247371399..247373319-chr1:247494315..247496686,3	K562	blood:
22	chr1:247495232..247496940-chr1:247645349..247647027,2	K562	blood:
23	chr1:247481131..247482896-chr1:247485976..247487995,2	MCF-7	breast:
24	chr1:247484997..247486937-chr1:247500462..247503140,2	K562	blood:
25	chr1:247494766..247495584-chr12:123849315..123850422,3	Hela-S3	cervix:
26	chr1:247069586..247071786-chr1:247495195..247496702,2	K562	blood:
27	chr1:247495021..247495664-chr12:52444981..52445780,2	Hela-S3	cervix:
28	chr1:247237656..247243483-chr1:247491762..247497969,8	K562	blood:
29	chr1:247093731..247095297-chr1:247494500..247497465,3	K562	blood:
30	chr1:247495187..247495988-chr9:79008974..79009831,2	HCT-116	colon:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRP3-1	chr1:247495187-247498708	NONHSAT010771
2	lnc-NLRP3-1	chr1:247495531-247495666	NONHSAT010772
3	lnc-NLRP3-1	chr1:247495658-247496689	NONHSAT010773

No data

Variant related genes	Relation type
ZNF496	TF binding region
ZNF496	CpG island
ENSG00000139697	chromatin interactions
ENSG00000254236	chromatin interactions
ENSG00000188295	chromatin interactions
ENSG00000162714	chromatin interactions
ENSG00000162722	chromatin interactions
ENSG00000155097	chromatin interactions
ENSG00000237149	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000227671	chromatin interactions
ENSG00000252516	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000174851	chromatin interactions
ENSG00000153207	chromatin interactions
ENSG00000135747	chromatin interactions
ENSG00000135002	chromatin interactions

Extended variants
information (count: 419 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11804535	chr1:247485654-247485655	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114225539	chr1:247485679-247485680	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs550466609	chr1:247485712-247485713	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs572006412	chr1:247485714-247485715	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs539420752	chr1:247485790-247485791	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs557836663	chr1:247485821-247485822	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs147447062	chr1:247485866-247485867	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs533894722	chr1:247485877-247485878	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs555221397	chr1:247485890-247485891	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs10924984	chr1:247485932-247485933	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544142276	chr1:247486006-247486007	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs140236078	chr1:247486008-247486009	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs149639846	chr1:247486057-247486058	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs11809277	chr1:247486073-247486074	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116211170	chr1:247486085-247486086	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs527734486	chr1:247486118-247486119	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs543130396	chr1:247486129-247486130	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs185574025	chr1:247486135-247486136	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs528352999	chr1:247486151-247486152	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs550137119	chr1:247486161-247486162	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs569315994	chr1:247486165-247486166	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs571969239	chr1:247486179-247486180	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs189693670	chr1:247486189-247486190	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs551357429	chr1:247486190-247486191	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs41268345	chr1:247486213-247486214	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533621359	chr1:247486237-247486238	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs555454685	chr1:247486260-247486261	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs41268347	chr1:247486266-247486267	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs200724874	chr1:247486411-247486412	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs374719725	chr1:247486417-247486418	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs6692645	chr1:247486421-247486422	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs371693895	chr1:247486438-247486439	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs550607792	chr1:247486441-247486442	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs577506893	chr1:247486493-247486494	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs148779406	chr1:247486494-247486495	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs201186610	chr1:247486512-247486513	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs61747077	chr1:247486528-247486529	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368319997	chr1:247486539-247486540	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200179235	chr1:247486564-247486565	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs572124164	chr1:247486604-247486605	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs373456742	chr1:247486609-247486610	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs561414146	chr1:247486610-247486611	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs185110959	chr1:247486647-247486648	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs7540329	chr1:247486678-247486679	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs558398729	chr1:247486679-247486680	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs144352891	chr1:247486702-247486703	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs192097147	chr1:247486723-247486724	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs6426239	chr1:247486736-247486737	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs560153683	chr1:247486740-247486741	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs148766305	chr1:247486746-247486747	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:851 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247456000-247493400	Weak transcription	Right Atrium	heart
2	chr1:247459800-247485800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:247460400-247493400	Strong transcription	Fetal Muscle Leg	muscle
4	chr1:247460800-247491800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:247460800-247493400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr1:247461200-247488200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:247461400-247493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:247462800-247488000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:247463000-247486200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:247463000-247486400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:247463000-247493600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:247463200-247493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:247463400-247486000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:247463400-247486600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:247464600-247486000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:247464800-247493400	Strong transcription	Fetal Stomach	stomach
17	chr1:247465200-247493400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:247467600-247493800	Weak transcription	Stomach Mucosa	stomach
19	chr1:247468400-247494000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:247469000-247493600	Weak transcription	Psoas Muscle	Psoas
21	chr1:247469400-247493800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:247471800-247493400	Weak transcription	Fetal Heart	heart
23	chr1:247472800-247493400	Weak transcription	Small Intestine	intestine
24	chr1:247474000-247488200	Weak transcription	Gastric	stomach
25	chr1:247476600-247486600	Strong transcription	HepG2	liver
26	chr1:247476600-247491400	Strong transcription	Dnd41	blood
27	chr1:247476600-247494000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:247478400-247486000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:247478400-247486800	Strong transcription	K562	blood
30	chr1:247479600-247487800	Strong transcription	Fetal Lung	lung
31	chr1:247479800-247493000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:247480000-247493600	Weak transcription	NHDF-Ad	bronchial
33	chr1:247481800-247487000	Strong transcription	Placenta	Placenta
34	chr1:247482000-247492600	Strong transcription	Liver	Liver
35	chr1:247482200-247486600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:247482200-247488600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:247482400-247493600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:247482600-247486800	Strong transcription	HSMM	muscle
39	chr1:247482600-247487000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:247482600-247493400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr1:247482600-247493400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:247482800-247485800	Strong transcription	Fetal Kidney	kidney
43	chr1:247482800-247485800	Strong transcription	GM12878-XiMat	blood
44	chr1:247482800-247486400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:247482800-247486800	Strong transcription	Osteobl	bone
46	chr1:247482800-247487000	Strong transcription	Brain Hippocampus Middle	brain
47	chr1:247482800-247487000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:247482800-247487400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:247482800-247487400	Strong transcription	Fetal Intestine Large	intestine
50	chr1:247482800-247492400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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