Variant report

Variant	rs3825077
Chromosome Location	chr12:57856014-57856015
allele	A/G
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	SP1	chr12:57852528-57856905	A549	lung:	n/a	chr12:57855088-57855100 chr12:57854788-57854797 chr12:57855421-57855430 chr12:57854019-57854032 chr12:57856662-57856671 chr12:57855543-57855552 chr12:57855232-57855244 chr12:57855089-57855099 chr12:57855429-57855443 chr12:57855571-57855580 chr12:57854556-57854565 chr12:57855541-57855553 chr12:57853860-57853872 chr12:57854024-57854036 chr12:57855089-57855098 chr12:57855570-57855582 chr12:57856000-57856009 chr12:57853899-57853911 chr12:57854788-57854797 chr12:57855233-57855247 chr12:57856151-57856163 chr12:57856152-57856161 chr12:57855594-57855608 chr12:57855090-57855099 chr12:57855547-57855561 chr12:57856000-57856014 chr12:57855999-57856011 chr12:57853861-57853871 chr12:57854546-57854560 chr12:57855232-57855244 chr12:57853861-57853870 chr12:57855570-57855582 chr12:57856152-57856166 chr12:57853659-57853668 chr12:57855567-57855581 chr12:57855572-57855581 chr12:57855542-57855551 chr12:57853154-57853161 chr12:57854024-57854036 chr12:57856153-57856162 chr12:57855090-57855099 chr12:57856001-57856010 chr12:57855085-57855099 chr12:57856525-57856539 chr12:57856151-57856163 chr12:57854788-57854798 chr12:57855999-57856011 chr12:57854025-57854034 chr12:57853836-57853850 chr12:57856152-57856162 chr12:57855232-57855243 chr12:57854021-57854035 chr12:57855114-57855127 chr12:57853901-57853910 chr12:57855089-57855099 chr12:57855088-57855100 chr12:57855950-57855964 chr12:57856000-57856010 chr12:57855543-57855552 chr12:57854557-57854566
2	FOSL2	chr12:57855755-57856090	A549	lung:	n/a	chr12:57855936-57855945 chr12:57855938-57855945 chr12:57856002-57856011 chr12:57855935-57855947
3	TCF12	chr12:57855871-57856773	A549	lung:	n/a	chr12:57856056-57856063
4	EGR1	chr12:57855286-57856038	ECC-1	luminal epithelium:	n/a	chr12:57855431-57855444 chr12:57856001-57856011 chr12:57855949-57855962 chr12:57855790-57855804 chr12:57855566-57855579 chr12:57855792-57855802 chr12:57855537-57855550 chr12:57855599-57855612 chr12:57855790-57855803 chr12:57855792-57855802 chr12:57855537-57855550 chr12:57855793-57855802 chr12:57855791-57855805 chr12:57855790-57855803 chr12:57855790-57855803 chr12:57855476-57855486 chr12:57855540-57855549 chr12:57856000-57856010 chr12:57855538-57855552
5	EGR1	chr12:57854983-57856017	H1-hESC	embryonic stem cell:	n/a	chr12:57855431-57855444 chr12:57856001-57856011 chr12:57855949-57855962 chr12:57855790-57855804 chr12:57855566-57855579 chr12:57855792-57855802 chr12:57855537-57855550 chr12:57855599-57855612 chr12:57855790-57855803 chr12:57855792-57855802 chr12:57855537-57855550 chr12:57855793-57855802 chr12:57855791-57855805 chr12:57855790-57855803 chr12:57855790-57855803 chr12:57855476-57855486 chr12:57855540-57855549 chr12:57856000-57856010 chr12:57855538-57855552
6	JUND	chr12:57854615-57856806	A549	lung:	n/a	chr12:57855936-57855945 chr12:57855597-57855606 chr12:57855938-57855945 chr12:57855935-57855946 chr12:57856002-57856011 chr12:57855935-57855947 chr12:57856274-57856288
7	CTCF	chr12:57853855-57857058	A549	lung:	n/a	chr12:57856610-57856631 chr12:57854445-57854463 chr12:57854447-57854468 chr12:57854448-57854457 chr12:57856617-57856630 chr12:57854448-57854461 chr12:57856579-57856592 chr12:57856615-57856633
8	SIX5	chr12:57854619-57856875	A549	lung:	n/a	chr12:57855051-57855060
9	FOSL1	chr12:57855673-57856096	K562	blood:	n/a	chr12:57855936-57855945 chr12:57855938-57855945 chr12:57856002-57856011 chr12:57855935-57855947
10	EGR1	chr12:57855212-57856621	HCT-116	colon:	n/a	chr12:57855431-57855444 chr12:57856001-57856011 chr12:57855949-57855962 chr12:57855790-57855804 chr12:57855566-57855579 chr12:57855792-57855802 chr12:57855537-57855550 chr12:57855599-57855612 chr12:57855790-57855803 chr12:57855792-57855802 chr12:57855537-57855550 chr12:57855793-57855802 chr12:57855791-57855805 chr12:57855790-57855803 chr12:57855790-57855803 chr12:57855476-57855486 chr12:57855540-57855549 chr12:57856000-57856010 chr12:57855538-57855552
11	SIN3AK20	chr12:57855857-57856809	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF12	chr12:57855848-57856134	H1-hESC	embryonic stem cell:	n/a	chr12:57856056-57856063
13	JUND	chr12:57855813-57856365	H1-hESC	embryonic stem cell:	n/a	chr12:57855936-57855945 chr12:57855938-57855945 chr12:57855935-57855946 chr12:57856002-57856011 chr12:57855935-57855947 chr12:57856274-57856288
14	PBX3	chr12:57855883-57856715	A549	lung:	n/a	n/a
15	MXI1	chr12:57855485-57856914	IMR90	lung:	n/a	n/a
16	E2F6	chr12:57855995-57856871	A549	lung:	n/a	chr12:57856569-57856580 chr12:57856001-57856010
17	SP1	chr12:57856001-57856808	GM12878	blood:	n/a	chr12:57856662-57856671 chr12:57856151-57856163 chr12:57856152-57856161 chr12:57856152-57856166 chr12:57856153-57856162 chr12:57856001-57856010 chr12:57856525-57856539 chr12:57856151-57856163 chr12:57856152-57856162
18	CHD2	chr12:57855759-57856790	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr12:57855983-57856874	ECC-1	luminal epithelium:	n/a	n/a
20	PBX3	chr12:57855722-57856916	A549	lung:	n/a	n/a
21	POLR2A	chr12:57855988-57856258	A549	lung:	n/a	n/a
22	TCF12	chr12:57852429-57856996	A549	lung:	n/a	chr12:57854335-57854342 chr12:57856056-57856063
23	TCF12	chr12:57855039-57856924	ECC-1	luminal epithelium:	n/a	chr12:57856056-57856063
24	EGR1	chr12:57855341-57856061	MCF-7	breast:	n/a	chr12:57855431-57855444 chr12:57856001-57856011 chr12:57855949-57855962 chr12:57855790-57855804 chr12:57855566-57855579 chr12:57855792-57855802 chr12:57855537-57855550 chr12:57855599-57855612 chr12:57855790-57855803 chr12:57855792-57855802 chr12:57855537-57855550 chr12:57855793-57855802 chr12:57855791-57855805 chr12:57855790-57855803 chr12:57855790-57855803 chr12:57855476-57855486 chr12:57855540-57855549 chr12:57856000-57856010 chr12:57855538-57855552
25	SP1	chr12:57852535-57856861	A549	lung:	n/a	chr12:57855088-57855100 chr12:57854788-57854797 chr12:57855421-57855430 chr12:57854019-57854032 chr12:57856662-57856671 chr12:57855543-57855552 chr12:57855232-57855244 chr12:57855089-57855099 chr12:57855429-57855443 chr12:57855571-57855580 chr12:57854556-57854565 chr12:57855541-57855553 chr12:57853860-57853872 chr12:57854024-57854036 chr12:57855089-57855098 chr12:57855570-57855582 chr12:57856000-57856009 chr12:57853899-57853911 chr12:57854788-57854797 chr12:57855233-57855247 chr12:57856151-57856163 chr12:57856152-57856161 chr12:57855594-57855608 chr12:57855090-57855099 chr12:57855547-57855561 chr12:57856000-57856014 chr12:57855999-57856011 chr12:57853861-57853871 chr12:57854546-57854560 chr12:57855232-57855244 chr12:57853861-57853870 chr12:57855570-57855582 chr12:57856152-57856166 chr12:57853659-57853668 chr12:57855567-57855581 chr12:57855572-57855581 chr12:57855542-57855551 chr12:57853154-57853161 chr12:57854024-57854036 chr12:57856153-57856162 chr12:57855090-57855099 chr12:57856001-57856010 chr12:57855085-57855099 chr12:57856525-57856539 chr12:57856151-57856163 chr12:57854788-57854798 chr12:57855999-57856011 chr12:57854025-57854034 chr12:57853836-57853850 chr12:57856152-57856162 chr12:57855232-57855243 chr12:57854021-57854035 chr12:57855114-57855127 chr12:57853901-57853910 chr12:57855089-57855099 chr12:57855088-57855100 chr12:57855950-57855964 chr12:57856000-57856010 chr12:57855543-57855552 chr12:57854557-57854566
26	POLR2A	chr12:57854408-57856858	H1-hESC	embryonic stem cell:	n/a	n/a
27	NR2F2	chr12:57856001-57856926	K562	blood:	n/a	n/a
28	POLR2A	chr12:57855997-57856814	PANC-1	pancreas:	n/a	n/a
29	GATA3	chr12:57852767-57856918	A549	lung:	n/a	chr12:57853695-57853706 chr12:57856399-57856409 chr12:57855281-57855292
30	BCL3	chr12:57853897-57856889	A549	lung:	n/a	chr12:57855572-57855581 chr12:57854572-57854581 chr12:57854557-57854566 chr12:57856000-57856009 chr12:57855538-57855551
31	JUN	chr12:57855762-57856698	H1-hESC	embryonic stem cell:	n/a	chr12:57855936-57855945 chr12:57855938-57855945 chr12:57856002-57856011 chr12:57855935-57855947 chr12:57856274-57856288
32	POLR2A	chr12:57855862-57856065	K562	blood:	n/a	n/a
33	HMGN3	chr12:57856011-57856276	K562	blood:	n/a	n/a
34	CTCF	chr12:57855900-57856050	HMEC	breast:	n/a	n/a
35	EGR1	chr12:57855294-57856258	ECC-1	luminal epithelium:	n/a	chr12:57855431-57855444 chr12:57856001-57856011 chr12:57855949-57855962 chr12:57855790-57855804 chr12:57855566-57855579 chr12:57855792-57855802 chr12:57855537-57855550 chr12:57855599-57855612 chr12:57855790-57855803 chr12:57855792-57855802 chr12:57855537-57855550 chr12:57855793-57855802 chr12:57855791-57855805 chr12:57855790-57855803 chr12:57855790-57855803 chr12:57855476-57855486 chr12:57855540-57855549 chr12:57856000-57856010 chr12:57855538-57855552
36	MAX	chr12:57854917-57856940	A549	lung:	n/a	chr12:57855792-57855801
37	JUND	chr12:57855733-57856466	H1-hESC	embryonic stem cell:	n/a	chr12:57855936-57855945 chr12:57855938-57855945 chr12:57855935-57855946 chr12:57856002-57856011 chr12:57855935-57855947 chr12:57856274-57856288
38	EP300	chr12:57854151-57856860	A549	lung:	n/a	chr12:57856103-57856119 chr12:57855936-57855945 chr12:57855472-57855488 chr12:57854554-57854570 chr12:57854167-57854181
39	NFIC	chr12:57855907-57856826	ECC-1	luminal epithelium:	n/a	n/a
40	HCFC1	chr12:57854691-57857048	Hela-S3	cervix:	n/a	n/a
41	SP1	chr12:57855928-57856882	H1-hESC	embryonic stem cell:	n/a	chr12:57856662-57856671 chr12:57856000-57856009 chr12:57856151-57856163 chr12:57856152-57856161 chr12:57856000-57856014 chr12:57855999-57856011 chr12:57856152-57856166 chr12:57856153-57856162 chr12:57856001-57856010 chr12:57856525-57856539 chr12:57856151-57856163 chr12:57855999-57856011 chr12:57856152-57856162 chr12:57855950-57855964 chr12:57856000-57856010
42	MAZ	chr12:57855243-57856809	K562	blood:	n/a	chr12:57855792-57855801
43	BCL3	chr12:57855690-57856882	A549	lung:	n/a	chr12:57856000-57856009
44	CTCF	chr12:57855970-57857049	SK-N-SH	brain:	n/a	chr12:57856610-57856631 chr12:57856617-57856630 chr12:57856579-57856592 chr12:57856615-57856633
45	REST	chr12:57855981-57856762	A549	lung:	n/a	chr12:57856317-57856326 chr12:57856323-57856331
46	MYC	chr12:57855956-57857035	A549	lung:	n/a	n/a
47	SIN3AK20	chr12:57855765-57856784	A549	lung:	n/a	n/a
48	MTA3	chr12:57855712-57856894	GM12878	blood:	n/a	n/a
49	ATF2	chr12:57855933-57856858	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZNF263	chr12:57855798-57856894	HEK293-T-REx	kidney:	n/a	chr12:57855949-57855958 chr12:57856525-57856534 chr12:57856517-57856538 chr12:57855923-57855932

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57856004-57856054	HRPEpiC	eye:	n/a
2	chr12:57856004-57856054	U87	brain:	n/a
3	chr12:57856004-57856054	SK-N-SH	brain:	n/a
4	chr12:57856004-57856054	SK-N-SH_RA	brain:	n/a
5	chr12:57856004-57856054	GM06990	blood:	n/a
6	chr12:57856004-57856054	HMEC	breast:	n/a
7	chr12:57856004-57856054	HEK293	kidney:	embryo
8	chr12:57856004-57856054	HCF	heart:	n/a
9	chr12:57856004-57856054	ECC-1	luminal epithelium:	n/a
10	chr12:57856004-57856054	HIPEpiC	eye:	n/a
11	chr12:57856004-57856054	AG04449	skin:	fetal
12	chr12:57856004-57856054	HL-60	blood:	n/a
13	chr12:57856004-57856054	HEEpiC	esophagus:	n/a
14	chr12:57856004-57856054	K562	blood:	n/a
15	chr12:57856004-57856054	HNPCEpiC	eye:	n/a
16	chr12:57856004-57856054	CMK	blood:	n/a
17	chr12:57856004-57856054	SK-N-MC	brain:	n/a
18	chr12:57856004-57856054	AoSMC	blood vessel:	n/a
19	chr12:57856004-57856054	PANC-1	pancreas:	n/a
20	chr12:57856004-57856054	BE2_C	brain:	n/a
21	chr12:57856004-57856054	GM12878	blood:	n/a
22	chr12:57856004-57856054	IMR90	lung:	fetal
23	chr12:57856004-57856054	HCPEpiC	choroid plexus:	n/a
24	chr12:57856004-57856054	HCM	heart:	n/a
25	chr12:57856004-57856054	NB4	blood:	n/a
26	chr12:57856004-57856054	GM12891	blood:	n/a
27	chr12:57856004-57856054	NH-A	brain:	n/a
28	chr12:57856004-57856054	PrEC	prostate:	n/a
29	chr12:57856004-57856054	ProgFib	skin:	n/a
30	chr12:57856004-57856054	ovcar-3	ovarian:	n/a
31	chr12:57856004-57856054	GM19239	blood:	n/a
32	chr12:57856004-57856054	AG04450	lung:	fetal
33	chr12:57856004-57856054	SAEC	small airway:	n/a
34	chr12:57856004-57856054	H1-hESC	embryonic stem cell:	embryo
35	chr12:57856004-57856054	Jurkat	blood:	n/a
36	chr12:57856004-57856054	MCF10A-Er-Src	breast:	n/a
37	chr12:57856004-57856054	NHDF-neo	bronchial:	n/a
38	chr12:57856004-57856054	BJ	skin:	n/a
39	chr12:57856004-57856054	Caco-2	colon:	n/a
40	chr12:57856004-57856054	HPAEpiC	pulmonary alveolar:	n/a
41	chr12:57856004-57856054	HRE	kidney:	n/a
42	chr12:57856004-57856054	RPTEC	kidney:	n/a
43	chr12:57856004-57856054	HRCEpiC	kidney:	n/a
44	chr12:57856004-57856054	MCF-7	breast:	n/a
45	chr12:57856004-57856054	NT2-D1	testis:	n/a
46	chr12:57856004-57856054	HUVEC	blood vessel:	n/a
47	chr12:57856004-57856054	HCT-116	colon:	n/a
48	chr12:57856004-57856054	A549	lung:	n/a
49	chr12:57856004-57856054	T-47D	breast:	n/a
50	chr12:57856004-57856054	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57854178..57856393-chr12:58005789..58008256,3	K562	blood:
2	chr12:57855324..57857821-chr12:57881155..57883248,2	MCF-7	breast:
3	chr12:57849885..57859254-chr12:57908711..57915821,16	K562	blood:
4	chr12:57855142..57857395-chr12:57860962..57863336,2	K562	blood:
5	chr12:57854130..57857750-chr12:57881459..57884101,5	K562	blood:
6	chr12:57848732..57851043-chr12:57853897..57856236,2	MCF-7	breast:
7	chr12:57852034..57858739-chr12:57911478..57917144,8	MCF-7	breast:
8	chr12:57853636..57856322-chr12:58144624..58147677,3	K562	blood:
9	chr12:57633619..57639143-chr12:57853203..57857806,7	K562	blood:
10	chr12:57853636..57856322-chr12:58144624..58146178,2	K562	blood:
11	chr12:57820715..57827591-chr12:57847165..57857509,18	K562	blood:
12	chr12:57850154..57858218-chr12:57910899..57919538,20	K562	blood:
13	chr12:57701257..57702169-chr12:57855798..57856658,2	K562	blood:
14	chr12:57855242..57858206-chr12:57882251..57883801,2	K562	blood:

Variant related genes	Relation type
GLI1	TF binding region
GLI1	CpG island
ENSG00000139269	Chromatin interaction
ENSG00000123329	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000185633	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000258001	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000166986	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10783826	0.81[ASN][1000 genomes]
rs10783827	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs10783828	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs10876986	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876987	0.81[ASN][1000 genomes]
rs11544238	0.92[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2228224	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.92[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2228225	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2228226	0.86[JPT][hapmap]
rs2277316	0.86[JPT][hapmap]
rs2277317	0.86[JPT][hapmap]
rs2292657	0.90[ASW][hapmap];0.96[CEU][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3782125	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3782126	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817474	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817475	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4760148	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4760255	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7309467	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
9	nsv469411	chr12:57844049-57921188	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
10	nsv559032	chr12:57844049-57921188	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
12	nsv899119	chr12:57851182-57923451	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv8974	chr12:57852779-57865881	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	n/a

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs3825077	ITGB7	cis	cerebellum	SCAN
rs3825077	DNAJC14	cis	cerebellum	SCAN
rs3825077	ITGA5	cis	cerebellum	SCAN
rs3825077	OR6C4	cis	parietal	SCAN
rs3825077	BLOC1S1	cis	cerebellum	SCAN
rs3825077	FAM119B	cis	cerebellum	SCAN
rs3825077	KIAA0748	cis	cerebellum	SCAN
rs3825077	RDH5	cis	cerebellum	SCAN
rs3825077	ATF7	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57852400-57856600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:57852400-57856800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:57852600-57856600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:57852600-57856600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr12:57852800-57856400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr12:57852800-57856600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr12:57852800-57856600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:57852800-57856600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr12:57852800-57856600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:57852800-57856600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:57852800-57856600	Active TSS	Aorta	Aorta
12	chr12:57853000-57856600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr12:57853000-57856600	Active TSS	A549	lung
14	chr12:57853000-57856800	Active TSS	Brain Substantia Nigra	brain
15	chr12:57853000-57856800	Active TSS	Fetal Kidney	kidney
16	chr12:57853400-57856400	Active TSS	NHLF	lung
17	chr12:57853400-57856600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr12:57854000-57856600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:57854000-57856600	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr12:57854000-57856800	Enhancers	Spleen	Spleen
21	chr12:57854200-57856200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
22	chr12:57854200-57856200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr12:57854200-57856600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr12:57854200-57856600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr12:57854200-57856800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr12:57854400-57856200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
27	chr12:57854600-57856200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
28	chr12:57854600-57856800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr12:57854800-57856200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:57854800-57856600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:57854800-57856600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:57854800-57856600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:57855000-57856200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:57855000-57856200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:57855000-57856200	Bivalent/Poised TSS	Fetal Stomach	stomach
36	chr12:57855000-57856400	Active TSS	HSMMtube	muscle
37	chr12:57855000-57856400	Active TSS	NHDF-Ad	bronchial
38	chr12:57855000-57856600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:57855000-57856600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:57855000-57856600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr12:57855000-57856600	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr12:57855000-57856600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr12:57855000-57856800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr12:57855000-57856800	Flanking Active TSS	Dnd41	blood
45	chr12:57855000-57856800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr12:57855200-57856200	Flanking Active TSS	Placenta	Placenta
47	chr12:57855200-57856200	Active TSS	Lung	lung
48	chr12:57855200-57856400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:57855200-57856400	Active TSS	Ovary	ovary
50	chr12:57855200-57856400	Active TSS	Right Atrium	heart

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