Variant report

Variant	rs1046188
Chromosome Location	chr1:155232074-155232075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:521)
CpG islands
(count:122)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr1:155231518-155232662	SK-N-SH	brain:	n/a	chr1:155231706-155231726
2	YY1	chr1:155231776-155232503	K562	blood:	n/a	n/a
3	MAX	chr1:155231384-155232542	ECC-1	luminal epithelium:	n/a	chr1:155232153-155232162 chr1:155232204-155232214
4	NRF1	chr1:155231823-155232448	GM12878	blood:	n/a	chr1:155232115-155232126
5	USF1	chr1:155231889-155232413	A549	lung:	n/a	n/a
6	POLR2A	chr1:155231556-155232682	HUVEC	blood vessel:	n/a	n/a
7	MTA3	chr1:155231026-155232771	GM12878	blood:	n/a	n/a
8	MAX	chr1:155231452-155232410	HepG2	liver:	n/a	chr1:155232153-155232162 chr1:155232204-155232214
9	NFATC1	chr1:155231491-155232656	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr1:155231429-155232344	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF384	chr1:155231895-155232300	K562	blood:	n/a	n/a
12	ELK4	chr1:155231712-155232360	Hela-S3	cervix:	n/a	n/a
13	MAX	chr1:155231785-155232517	GM12878	blood:	n/a	chr1:155232153-155232162 chr1:155232204-155232214
14	GATA3	chr1:155231722-155232755	A549	lung:	n/a	n/a
15	MYC	chr1:155231684-155232452	HepG2	liver:	n/a	chr1:155232153-155232162 chr1:155232204-155232214
16	POLR2A	chr1:155231813-155232375	A549	lung:	n/a	n/a
17	ELF1	chr1:155231162-155232419	GM12878	blood:	n/a	n/a
18	MAX	chr1:155231585-155232488	A549	lung:	n/a	chr1:155232153-155232162 chr1:155232204-155232214
19	MYC	chr1:155231656-155232491	K562	blood:	n/a	chr1:155232153-155232162 chr1:155232204-155232214
20	CEBPD	chr1:155231772-155232438	HepG2	liver:	n/a	n/a
21	ZBTB33	chr1:155232034-155232347	HCT-116	colon:	n/a	n/a
22	EP300	chr1:155231879-155232373	HepG2	liver:	n/a	n/a
23	NRF1	chr1:155231934-155232373	Hela-S3	cervix:	n/a	chr1:155232115-155232126
24	TCF7L2	chr1:155231792-155232328	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:155231177-155232656	GM12878	blood:	n/a	n/a
26	JUND	chr1:155231817-155232458	K562	blood:	n/a	n/a
27	POLR2A	chr1:155231769-155232680	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr1:155230788-155233705	HepG2	liver:	n/a	n/a
29	YY1	chr1:155231673-155232471	GM12878	blood:	n/a	n/a
30	SIN3AK20	chr1:155231172-155232685	MCF-7	breast:	n/a	n/a
31	ATF2	chr1:155231755-155232447	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:155231071-155233080	GM12892	blood:	n/a	n/a
33	PML	chr1:155231051-155232717	GM12878	blood:	n/a	n/a
34	HEY1	chr1:155231788-155232858	K562	blood:	n/a	n/a
35	CTCF	chr1:155231980-155232130	AoAF	blood vessel:	n/a	n/a
36	SIN3AK20	chr1:155231367-155232498	SK-N-SH	brain:	n/a	n/a
37	USF2	chr1:155231629-155232401	H1-hESC	embryonic stem cell:	n/a	chr1:155232154-155232165 chr1:155232203-155232214
38	POLR2A	chr1:155231777-155232693	HepG2	liver:	n/a	n/a
39	MYC	chr1:155231575-155232537	K562	blood:	n/a	chr1:155232153-155232162 chr1:155232204-155232214
40	BCLAF1	chr1:155231614-155232587	GM12878	blood:	n/a	n/a
41	EP300	chr1:155232028-155232422	SK-N-SH_RA	brain:	n/a	n/a
42	TBP	chr1:155231884-155232468	GM12878	blood:	n/a	n/a
43	MAX	chr1:155231745-155232559	H1-hESC	embryonic stem cell:	n/a	chr1:155232153-155232162 chr1:155232204-155232214
44	POLR2A	chr1:155231491-155232456	MCF-7	breast:	n/a	n/a
45	POLR2A	chr1:155231314-155232527	GM12892	blood:	n/a	n/a
46	ZNF143	chr1:155231762-155232508	Hela-S3	cervix:	n/a	chr1:155232230-155232248 chr1:155232230-155232239 chr1:155232232-155232241 chr1:155232234-155232253
47	KAP1	chr1:155231774-155232506	U2OS	brain:	n/a	n/a
48	POLR2A	chr1:155231730-155232457	GM12891	blood:	n/a	n/a
49	ATF3	chr1:155231870-155232433	HepG2	liver:	n/a	n/a
50	SIN3A	chr1:155231495-155232462	GM12878	blood:	n/a	chr1:155231690-155231699

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155232061-155232111	K562	blood:	n/a
2	chr1:155232061-155232111	NT2-D1	testis:	n/a
3	chr1:155232061-155232111	HL-60	blood:	n/a
4	chr1:155232061-155232111	SKMC	muscle:	n/a
5	chr1:155232042-155232092	Hepatocyte	liver:	n/a
6	chr1:155232061-155232111	SK-N-MC	brain:	n/a
7	chr1:155232061-155232111	PFSK-1	brain:	n/a
8	chr1:155232061-155232111	Hela-S3	cervix:	n/a
9	chr1:155232061-155232111	H1-hESC	embryonic stem cell:	embryo
10	chr1:155232042-155232092	AG09319	gingival:	n/a
11	chr1:155232061-155232111	SK-N-SH_RA	brain:	n/a
12	chr1:155232061-155232111	GM12891	blood:	n/a
13	chr1:155232042-155232092	HRCEpiC	kidney:	n/a
14	chr1:155232061-155232111	A549	lung:	n/a
15	chr1:155232042-155232092	HCT-116	colon:	n/a
16	chr1:155232061-155232111	GM19239	blood:	n/a
17	chr1:155232061-155232111	HAEpiC	amniotic membrane:	n/a
18	chr1:155232061-155232111	HUVEC	blood vessel:	n/a
19	chr1:155232061-155232111	Hepatocyte	liver:	n/a
20	chr1:155232042-155232092	U87	brain:	n/a
21	chr1:155232042-155232092	MCF10A-Er-Src	breast:	n/a
22	chr1:155232042-155232092	HEEpiC	esophagus:	n/a
23	chr1:155232042-155232092	HCF	heart:	n/a
24	chr1:155232061-155232111	GM12878	blood:	n/a
25	chr1:155232061-155232111	HRCEpiC	kidney:	n/a
26	chr1:155232061-155232111	MCF-7	breast:	n/a
27	chr1:155232061-155232111	HRE	kidney:	n/a
28	chr1:155232061-155232111	Jurkat	blood:	n/a
29	chr1:155232042-155232092	HCM	heart:	n/a
30	chr1:155232061-155232111	HMEC	breast:	n/a
31	chr1:155232042-155232092	HMEC	breast:	n/a
32	chr1:155232042-155232092	NB4	blood:	n/a
33	chr1:155232061-155232111	HRPEpiC	eye:	n/a
34	chr1:155232061-155232111	Caco-2	colon:	n/a
35	chr1:155232061-155232111	HCT-116	colon:	n/a
36	chr1:155232042-155232092	AG10803	skin:	n/a
37	chr1:155232061-155232111	CMK	blood:	n/a
38	chr1:155232061-155232111	HNPCEpiC	eye:	n/a
39	chr1:155232042-155232092	HEK293	kidney:	embryo
40	chr1:155232042-155232092	Hela-S3	cervix:	n/a
41	chr1:155232042-155232092	ECC-1	luminal epithelium:	n/a
42	chr1:155232061-155232111	HepG2	liver:	n/a
43	chr1:155232042-155232092	Caco-2	colon:	n/a
44	chr1:155232061-155232111	RPTEC	kidney:	n/a
45	chr1:155232061-155232111	AG04449	skin:	fetal
46	chr1:155232042-155232092	MCF-7	breast:	n/a
47	chr1:155232042-155232092	SAEC	small airway:	n/a
48	chr1:155232042-155232092	Jurkat	blood:	n/a
49	chr1:155232061-155232111	HCF	heart:	n/a
50	chr1:155232061-155232111	ovcar-3	ovarian:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155229082..155234937-chr1:155291248..155296864,8	K562	blood:
2	chr1:155231611..155232224-chr10:102045902..102046708,2	HCT-116	colon:
3	chr1:155230699..155233655-chr6:27804645..27806252,2	MCF-7	breast:
4	chr1:155230732..155234142-chr1:155291994..155295451,6	MCF-7	breast:
5	chr1:155213191..155216225-chr1:155230341..155232984,3	MCF-7	breast:
6	chr1:155211690..155216212-chr1:155231766..155235735,5	MCF-7	breast:
7	chr1:155231631..155232403-chr6:33588518..33589463,2	Hela-S3	cervix:
8	chr1:155175313..155180738-chr1:155230329..155234021,8	MCF-7	breast:
9	chr1:155231407..155233869-chr1:155287247..155288770,2	MCF-7	breast:
10	chr1:155231157..155233872-chr1:155289047..155290722,2	K562	blood:
11	chr1:155228693..155233633-chr1:155276892..155283389,6	K562	blood:
12	chr1:155176808..155180528-chr1:155231411..155234045,4	K562	blood:
13	chr1:155209377..155211075-chr1:155231660..155233982,2	MCF-7	breast:
14	chr1:155218456..155235751-chr1:155288837..155299195,44	MCF-7	breast:
15	chr1:155177282..155178806-chr1:155231376..155233429,2	K562	blood:
16	chr1:155231323..155232598-chr15:65596609..65597459,3	Hela-S3	cervix:

No data

Variant related genes	Relation type
SCAMP3	TF binding region
SCAMP3	CpG island
ENSG00000160752	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000196072	Chromatin interaction
ENSG00000096433	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10128085	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1045253	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1052176	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1052177	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1076556	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1078699	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10796940	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10796943	0.82[CHB][hapmap];0.90[TSI][hapmap]
rs10796945	0.84[CHB][hapmap];0.85[TSI][hapmap]
rs10908459	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10908463	0.84[CHB][hapmap];0.86[MEX][hapmap]
rs10908465	0.84[CHB][hapmap];0.85[TSI][hapmap]
rs11264343	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11264345	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11264346	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11264347	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11264348	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264349	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11264351	0.90[ASN][1000 genomes]
rs11264352	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11264353	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11264354	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11264355	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11264357	0.82[AMR][1000 genomes]
rs11264359	0.90[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs11264361	0.84[CHB][hapmap];0.80[CHD][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap]
rs11264367	0.84[CHB][hapmap]
rs11264369	0.84[CHB][hapmap]
rs11264371	0.84[CHB][hapmap]
rs11264372	0.84[CHB][hapmap]
rs11264375	0.84[CHB][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs1142287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577338	0.97[ASN][1000 genomes]
rs12026638	0.89[CHB][hapmap];0.85[TSI][hapmap]
rs12034326	0.87[ASN][1000 genomes]
rs12041534	0.84[CHB][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs12042020	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12044063	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12049375	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12067675	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12239114	0.84[CHB][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap]
rs12407919	0.84[ASN][1000 genomes]
rs12563994	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12723761	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12724449	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12732972	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12748155	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12749306	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1325908	0.84[CHB][hapmap]
rs1546818	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1800438	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1800442	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1807042	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2009578	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2071053	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2072647	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2075566	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075569	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2236863	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236864	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2242576	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2242577	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2297480	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap]
rs2361536	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2361543	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28373017	0.81[ASN][1000 genomes]
rs3020781	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34906309	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3754485	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3762272	0.87[ASN][1000 genomes]
rs3768566	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3814318	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3814319	0.93[ASN][1000 genomes]
rs4043	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4620533	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5005770	0.84[CHB][hapmap];0.85[TSI][hapmap]
rs56310840	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59062514	0.86[ASN][1000 genomes]
rs59352002	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6672284	0.83[AMR][1000 genomes]
rs734073	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs734074	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs741756	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7520184	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7524950	0.84[AMR][1000 genomes]
rs7543234	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7549276	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7554780	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs762488	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8177968	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8847	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs932972	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9426886	0.83[JPT][hapmap]
rs9628662	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9729564	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
3	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
4	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
5	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
6	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
7	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
8	nsv1011773	chr1:155189148-155234821	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
9	esv1832331	chr1:155213136-155271366	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	esv1826485	chr1:155214478-155264270	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
11	esv1824971	chr1:155215985-155260869	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
13	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
14	esv1832799	chr1:155226846-155261543	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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	34 gene(s)	inside rSNPs	diseases
15	esv17013	chr1:155227059-155262674	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	esv1797617	chr1:155228592-155264270	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
17	esv1829849	chr1:155228592-155264270	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
18	esv1832093	chr1:155230444-155253599	Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
19	esv1826500	chr1:155230444-155261567	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
20	esv1831471	chr1:155230444-155261567	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
21	esv1826924	chr1:155230444-155271566	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
22	esv1830821	chr1:155230610-155265661	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
23	esv1831955	chr1:155230610-155265661	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
24	esv1826761	chr1:155230622-155262613	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
25	esv1826280	chr1:155230622-155262851	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
26	esv1832100	chr1:155230622-155269896	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
27	esv1830793	chr1:155230644-155261367	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
28	esv1827811	chr1:155230644-155271366	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
29	esv1827924	chr1:155230644-155271366	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
30	esv1826306	chr1:155232074-155261777	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs1046188	GBA	cis	Esophagus Mucosa	GTEx
rs1046188	GBAP1	cis	parietal	SCAN
rs1046188	GBAP1	cis	Artery Tibial	GTEx
rs1046188	LAMTOR2	cis	lymphoblastoid	seeQTL
rs1046188	GBAP1	cis	Thyroid	GTEx
rs1046188	LCE1C	cis	parietal	SCAN
rs1046188	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs1046188	BIRC6	trans	parietal	SCAN
rs1046188	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs1046188	THEM5	cis	parietal	SCAN
rs1046188	GBA	cis	lymphoblastoid	seeQTL
rs1046188	GBAP1	cis	Esophagus Mucosa	GTEx
rs1046188	THBS3	cis	Whole Blood	GTEx
rs1046188	CRNN	cis	cerebellum	SCAN
rs1046188	ENSG00000116521	cis	multi-tissue	Pritchard
rs1046188	YY1AP1	cis	cerebellum	SCAN
rs1046188	ADAM15	cis	multi-tissue	Pritchard
rs1046188	RIT1	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155230000-155233200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:155230800-155232400	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr1:155230800-155232600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:155230800-155232600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:155231000-155232200	Active TSS	HSMM	muscle
6	chr1:155231000-155232400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:155231000-155232600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr1:155231000-155232600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr1:155231000-155232600	Active TSS	NHDF-Ad	bronchial
10	chr1:155231200-155232200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:155231200-155232400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr1:155231200-155232400	Active TSS	GM12878-XiMat	blood
13	chr1:155231200-155232600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:155231200-155232600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr1:155231200-155232600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:155231400-155232200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:155231400-155232200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:155231400-155232200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:155231400-155232200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:155231400-155232200	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr1:155231400-155232200	Active TSS	Muscle Satellite Cultured Cells	--
22	chr1:155231400-155232200	Active TSS	Small Intestine	intestine
23	chr1:155231400-155232200	Active TSS	K562	blood
24	chr1:155231400-155232400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:155231400-155232400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:155231400-155232400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:155231400-155232400	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr1:155231400-155232400	Active TSS	Fetal Kidney	kidney
29	chr1:155231400-155232400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr1:155231400-155232400	Active TSS	A549	lung
31	chr1:155231400-155232400	Active TSS	Hela-S3	cervix
32	chr1:155231400-155232400	Active TSS	HSMMtube	muscle
33	chr1:155231400-155232400	Active TSS	NHEK	skin
34	chr1:155231400-155232400	Active TSS	NHLF	lung
35	chr1:155231400-155232600	Active TSS	H9 Cell Line	embryonic stem cell
36	chr1:155231400-155232600	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr1:155231400-155232600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:155231400-155232600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr1:155231400-155232600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr1:155231400-155232600	Active TSS	Esophagus	oesophagus
41	chr1:155231400-155232600	Active TSS	Psoas Muscle	Psoas
42	chr1:155231400-155232600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr1:155231600-155232200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:155231600-155232200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:155231600-155232200	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr1:155231600-155232200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr1:155231600-155232200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:155231600-155232200	Active TSS	Duodenum Mucosa	Duodenum
49	chr1:155231600-155232200	Active TSS	Placenta Amnion	Placenta Amnion
50	chr1:155231600-155232200	Active TSS	NH-A	brain

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