Variant report

Variant	esv1799864
Chromosome Location	chr1:247494789-247500650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:780)
CpG islands
(count:793)
Chromatin interactive
region (count:35)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:780 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:247500521-247500881	K562	blood:	n/a	n/a
2	ATF1	chr1:247500583-247500931	K562	blood:	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	chr1:247500313-247500339	K562	blood:	n/a	n/a
6	BCL3	chr1:247494952-247495314	GM12878	blood:	n/a	chr1:247495254-247495263 chr1:247495200-247495209 chr1:247495255-247495268
7	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
8	BCLAF1	chr1:247495483-247495909	GM12878	blood:	n/a	chr1:247495606-247495615 chr1:247495607-247495620 chr1:247495603-247495616 chr1:247495642-247495655 chr1:247495626-247495639
9	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
10	BCLAF1	chr1:247494977-247495394	GM12878	blood:	n/a	chr1:247495254-247495263 chr1:247495200-247495209 chr1:247495381-247495390 chr1:247495255-247495268 chr1:247495371-247495384
11	BHLHE40	chr1:247495077-247495898	GM12878	blood:	n/a	chr1:247495605-247495621
12	BHLHE40	chr1:247497864-247498485	K562	blood:	n/a	n/a
13	BHLHE40	chr1:247494347-247496575	K562	blood:	n/a	chr1:247495605-247495621 chr1:247494560-247494576
14	BHLHE40	chr1:247495097-247495885	HepG2	liver:	n/a	chr1:247495605-247495621
15	BHLHE40	chr1:247496817-247496828	K562	blood:	n/a	n/a
16	BRCA1	chr1:247495106-247495317	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr1:247495003-247497040	K562	blood:	n/a	n/a
18	CBX3	chr1:247494331-247494795	K562	blood:	n/a	n/a
19	CCNT2	chr1:247494234-247495919	K562	blood:	n/a	chr1:247495255-247495264
20	CCNT2	chr1:247496471-247496699	K562	blood:	n/a	n/a
21	CEBPB	chr1:247495703-247495886	K562	blood:	n/a	n/a
22	CEBPB	chr1:247495670-247495846	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:247495073-247495374	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr1:247500577-247500910	K562	blood:	n/a	n/a
25	CEBPB	chr1:247495579-247495920	Hela-S3	cervix:	n/a	n/a
26	CEBPD	chr1:247494873-247495460	HepG2	liver:	n/a	n/a
27	CHD1	chr1:247493780-247497114	IMR90	lung:	n/a	n/a
28	CHD1	chr1:247494529-247495213	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD1	chr1:247495781-247496498	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr1:247495179-247496161	GM12878	blood:	n/a	n/a
31	CHD1	chr1:247494405-247494924	GM12878	blood:	n/a	n/a
32	CHD2	chr1:247498965-247499027	K562	blood:	n/a	n/a
33	CHD2	chr1:247496104-247496572	K562	blood:	n/a	n/a
34	CHD2	chr1:247494387-247494905	GM12878	blood:	n/a	n/a
35	CHD2	chr1:247500646-247500825	K562	blood:	n/a	n/a
36	CHD2	chr1:247495210-247495388	HepG2	liver:	n/a	n/a
37	CHD2	chr1:247495162-247495374	K562	blood:	n/a	n/a
38	CHD2	chr1:247495676-247496194	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr1:247496551-247496644	GM12878	blood:	n/a	n/a
40	CHD2	chr1:247495107-247495869	GM12878	blood:	n/a	n/a
41	CHD2	chr1:247494651-247494848	K562	blood:	n/a	n/a
42	CHD2	chr1:247494427-247495874	Hela-S3	cervix:	n/a	n/a
43	CREB1	chr1:247494888-247495855	A549	lung:	n/a	n/a
44	CREB1	chr1:247494145-247495875	HepG2	liver:	n/a	n/a
45	CTBP2	chr1:247494201-247495929	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr1:247496200-247496350	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr1:247495632-247495805	GM10266	blood:	n/a	n/a
48	CTCF	chr1:247498160-247498310	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr1:247494700-247494850	GM12865	blood:	n/a	n/a
50	CTCF	chr1:247495600-247495750	GM06990	blood:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247494926-247494976	Jurkat	blood:	n/a
2	chr1:247496922-247496972	AoSMC	blood vessel:	n/a
3	chr1:247495212-247495262	NH-A	brain:	n/a
4	chr1:247495818-247495868	PrEC	prostate:	n/a
5	chr1:247494926-247494976	MCF10A-Er-Src	breast:	n/a
6	chr1:247495212-247495262	HL-60	blood:	n/a
7	chr1:247494767-247494817	IMR90	lung:	fetal
8	chr1:247496404-247496454	SK-N-MC	brain:	n/a
9	chr1:247496404-247496454	AG09319	gingival:	n/a
10	chr1:247494983-247495033	PFSK-1	brain:	n/a
11	chr1:247496094-247496144	HRPEpiC	eye:	n/a
12	chr1:247495769-247495819	HEK293	kidney:	embryo
13	chr1:247494983-247495033	GM19239	blood:	n/a
14	chr1:247496404-247496454	HCM	heart:	n/a
15	chr1:247496922-247496972	AG04450	lung:	fetal
16	chr1:247496094-247496144	NHDF-neo	bronchial:	n/a
17	chr1:247495212-247495262	SK-N-SH_RA	brain:	n/a
18	chr1:247495250-247495300	HRE	kidney:	n/a
19	chr1:247494983-247495033	PrEC	prostate:	n/a
20	chr1:247496575-247496625	K562	blood:	n/a
21	chr1:247496404-247496454	Hela-S3	cervix:	n/a
22	chr1:247494983-247495033	AoSMC	blood vessel:	n/a
23	chr1:247496575-247496625	ECC-1	luminal epithelium:	n/a
24	chr1:247494983-247495033	ProgFib	skin:	n/a
25	chr1:247495818-247495868	HMEC	breast:	n/a
26	chr1:247495818-247495868	K562	blood:	n/a
27	chr1:247496922-247496972	AG09309	skin:	n/a
28	chr1:247496922-247496972	ECC-1	luminal epithelium:	n/a
29	chr1:247499595-247499645	NHBE	bronchial:	n/a
30	chr1:247495769-247495819	Jurkat	blood:	n/a
31	chr1:247499595-247499645	GM06990	blood:	n/a
32	chr1:247496922-247496972	GM12891	blood:	n/a
33	chr1:247495818-247495868	HUVEC	blood vessel:	n/a
34	chr1:247496575-247496625	PFSK-1	brain:	n/a
35	chr1:247496404-247496454	NHBE	bronchial:	n/a
36	chr1:247495250-247495300	HepG2	liver:	n/a
37	chr1:247494767-247494817	A549	lung:	n/a
38	chr1:247496094-247496144	HIPEpiC	eye:	n/a
39	chr1:247495250-247495300	HIPEpiC	eye:	n/a
40	chr1:247496922-247496972	AG09319	gingival:	n/a
41	chr1:247494767-247494817	HRE	kidney:	n/a
42	chr1:247496404-247496454	HEK293	kidney:	embryo
43	chr1:247494926-247494976	AG10803	skin:	n/a
44	chr1:247494983-247495033	HRCEpiC	kidney:	n/a
45	chr1:247495818-247495868	NT2-D1	testis:	n/a
46	chr1:247496575-247496625	IMR90	lung:	fetal
47	chr1:247495818-247495868	GM12878	blood:	n/a
48	chr1:247495818-247495868	HCPEpiC	choroid plexus:	n/a
49	chr1:247499595-247499645	LNCaP	prostate:	n/a
50	chr1:247496053-247496103	BJ	skin:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247497043..247499378-chr1:247507440..247508988,2	MCF-7	breast:
2	chr1:247093791..247096097-chr1:247493835..247497465,5	K562	blood:
3	chr1:247371399..247373319-chr1:247494315..247496686,3	K562	blood:
4	chr1:247371506..247373896-chr1:247494793..247496492,2	K562	blood:
5	chr1:247495021..247495664-chr12:52444981..52445780,2	Hela-S3	cervix:
6	chr1:247373865..247374385-chr1:247494539..247495272,2	NB4	blood:
7	chr1:247069586..247071786-chr1:247495195..247496702,2	K562	blood:
8	chr1:247495202..247495979-chr14:105219028..105219965,2	Hela-S3	cervix:
9	chr1:247473800..247482682-chr1:247490121..247498423,19	K562	blood:
10	chr1:247266988..247268956-chr1:247494459..247496057,2	MCF-7	breast:
11	chr1:247495212..247495870-chr7:102715654..102716186,2	Hela-S3	cervix:
12	chr1:247237656..247243483-chr1:247491762..247497969,8	K562	blood:
13	chr1:247371907..247375145-chr1:247492885..247497524,4	MCF-7	breast:
14	chr1:247495103..247495785-chr11:66056230..66056965,2	Hela-S3	cervix:
15	chr1:247484098..247486215-chr1:247495440..247497543,2	K562	blood:
16	chr1:247497896..247501644-chr1:247501987..247504336,4	MCF-7	breast:
17	chr1:247371861..247375582-chr1:247493463..247496360,5	MCF-7	breast:
18	chr1:247450966..247454008-chr1:247495973..247498678,3	K562	blood:
19	chr1:247498783..247501107-chr1:247612451..247615319,2	K562	blood:
20	chr1:247497133..247499092-chr1:249129196..249131643,2	K562	blood:
21	chr1:247093731..247095297-chr1:247494500..247497465,3	K562	blood:
22	chr1:247495187..247495988-chr9:79008974..79009831,2	HCT-116	colon:
23	chr1:247374235..247377046-chr1:247498080..247500631,2	K562	blood:
24	chr1:247497499..247499211-chr1:247511001..247512771,2	MCF-7	breast:
25	chr1:247494766..247495584-chr12:123849315..123850422,3	Hela-S3	cervix:
26	chr1:247495432..247495974-chr10:77162497..77163288,2	Hela-S3	cervix:
27	chr1:247342736..247346262-chr1:247495942..247498816,3	K562	blood:
28	chr1:247495232..247496940-chr1:247645349..247647027,2	K562	blood:
29	chr1:247498761..247500307-chr1:247510111..247511833,2	MCF-7	breast:
30	chr1:247496074..247498986-chr1:247563500..247566011,2	K562	blood:
31	chr1:247089398..247090999-chr1:247497289..247500045,2	K562	blood:
32	chr1:247490651..247493187-chr1:247497913..247500341,2	MCF-7	breast:
33	chr1:247484997..247486937-chr1:247500462..247503140,2	K562	blood:
34	chr1:247500532..247503648-chr1:247521272..247523608,4	K562	blood:
35	chr1:247495187..247496810-chr1:247522265..247524064,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRP3-1	chr1:247496212-247497256	XLOC_000647
2	lnc-NLRP3-1	chr1:247495658-247496689	NONHSAT010773
3	lnc-NLRP3-1	chr1:247496030-247497728	NONHSAT010772
4	lnc-NLRP3-1	chr1:247495531-247495666	NONHSAT010772
5	lnc-NLRP3-1	chr1:247495187-247498708	NONHSAT010771

No data

Variant related genes	Relation type
ZNF496	TF binding region
ZNF496	CpG island
ENSG00000135002	chromatin interactions
ENSG00000227671	chromatin interactions
ENSG00000237149	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000174851	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000188295	chromatin interactions
ENSG00000153207	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000162714	chromatin interactions
ENSG00000177535	chromatin interactions
ENSG00000135747	chromatin interactions
EIF4E	miRNA target sites

Extended variants
information (count: 215 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570090484	chr1:247494847-247494848	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs537509760	chr1:247494874-247494875	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs552690857	chr1:247494879-247494880	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs181944724	chr1:247494911-247494912	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs535783985	chr1:247494947-247494948	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs207461402	chr1:247494960-247494961	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs534904915	chr1:247494979-247494980	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs553572259	chr1:247494992-247494993	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs574992625	chr1:247495028-247495029	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs111800993	chr1:247495038-247495039	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs185949927	chr1:247495099-247495100	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs535766669	chr1:247495264-247495265	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
13	rs554110229	chr1:247495354-247495355	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
14	rs113566032	chr1:247495385-247495386	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
15	rs141676081	chr1:247495390-247495391	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
16	rs564824139	chr1:247495414-247495415	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
17	rs576910624	chr1:247495510-247495511	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
18	rs572052400	chr1:247495514-247495515	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
19	rs540825373	chr1:247495553-247495554	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
20	rs11311653	chr1:247495601-247495602	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
21	rs545532982	chr1:247495605-247495606	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
22	rs397983657	chr1:247495610-247495611	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
23	rs559499939	chr1:247495625-247495626	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
24	rs370175795	chr1:247495635-247495636	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
25	rs12751997	chr1:247495693-247495694	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
26	rs190711067	chr1:247495756-247495757	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
27	rs548522638	chr1:247495783-247495784	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
28	rs111550124	chr1:247495790-247495791	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
29	rs563611855	chr1:247495810-247495811	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
30	rs530906397	chr1:247495813-247495814	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
31	rs552652078	chr1:247495833-247495834	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
32	rs570847873	chr1:247495864-247495865	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
33	rs201876949	chr1:247495868-247495869	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
34	rs115535712	chr1:247495887-247495888	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
35	rs546849391	chr1:247495891-247495892	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
36	rs3795459	chr1:247495926-247495927	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
37	rs367943513	chr1:247495943-247495944	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
38	rs9804117	chr1:247495996-247495997	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs3795460	chr1:247496004-247496005	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
40	rs575576678	chr1:247496020-247496021	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
41	rs536638431	chr1:247496039-247496040	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
42	rs56322743	chr1:247496080-247496081	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs4253948	chr1:247496131-247496132	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
44	rs541832348	chr1:247496146-247496147	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
45	rs113915493	chr1:247496182-247496183	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
46	rs544421372	chr1:247496234-247496235	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
47	rs574671062	chr1:247496258-247496259	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
48	rs181213170	chr1:247496277-247496278	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
49	rs557127326	chr1:247496328-247496329	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
50	rs375134082	chr1:247496329-247496330	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	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:648 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247493400-247494800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr1:247493600-247496400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:247493800-247495400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:247493800-247495800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:247493800-247496200	Active TSS	HSMMtube	muscle
6	chr1:247493800-247496400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:247493800-247496600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:247494000-247494800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr1:247494000-247495000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr1:247494000-247495000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:247494000-247496000	Active TSS	NHLF	lung
12	chr1:247494000-247496400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:247494000-247496400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:247494000-247496400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:247494000-247496400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:247494000-247496400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:247494000-247496400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:247494000-247496600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:247494000-247496600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:247494200-247494800	Enhancers	Fetal Brain Male	brain
21	chr1:247494200-247494800	Bivalent/Poised TSS	HepG2	liver
22	chr1:247494200-247495000	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr1:247494200-247495000	Active TSS	Stomach Mucosa	stomach
24	chr1:247494200-247495600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:247494200-247495600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:247494200-247495600	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr1:247494200-247495600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:247494200-247495600	Active TSS	GM12878-XiMat	blood
29	chr1:247494200-247495600	Active TSS	HMEC	breast
30	chr1:247494200-247495800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:247494200-247495800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr1:247494200-247495800	Active TSS	Brain Angular Gyrus	brain
33	chr1:247494200-247495800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr1:247494200-247495800	Active TSS	Brain Substantia Nigra	brain
35	chr1:247494200-247495800	Active TSS	Fetal Intestine Large	intestine
36	chr1:247494200-247495800	Active TSS	Fetal Lung	lung
37	chr1:247494200-247495800	Active TSS	Fetal Stomach	stomach
38	chr1:247494200-247495800	Active TSS	Fetal Thymus	thymus
39	chr1:247494200-247495800	Active TSS	Psoas Muscle	Psoas
40	chr1:247494200-247495800	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr1:247494200-247495800	Active TSS	Thymus	Thymus
42	chr1:247494200-247495800	Active TSS	Hela-S3	cervix
43	chr1:247494200-247495800	Active TSS	HUVEC	blood vessel
44	chr1:247494200-247495800	Active TSS	K562	blood
45	chr1:247494200-247495800	Active TSS	NHDF-Ad	bronchial
46	chr1:247494200-247495800	Active TSS	NHEK	skin
47	chr1:247494200-247496000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:247494200-247496000	Active TSS	Brain Anterior Caudate	brain
49	chr1:247494200-247496000	Active TSS	Fetal Brain Female	brain
50	chr1:247494200-247496000	Active TSS	Rectal Smooth Muscle	rectum

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