Variant report

Variant	rs2242576
Chromosome Location	chr1:155231545-155231546
allele	A/C
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	PBX3	chr1:155231518-155232662	SK-N-SH	brain:	n/a	chr1:155231706-155231726
2	MAX	chr1:155231384-155232542	ECC-1	luminal epithelium:	n/a	chr1:155232153-155232162 chr1:155232204-155232214
3	GABPA	chr1:155231029-155231718	HL-60	blood:	n/a	n/a
4	MTA3	chr1:155231026-155232771	GM12878	blood:	n/a	n/a
5	MAX	chr1:155231452-155232410	HepG2	liver:	n/a	chr1:155232153-155232162 chr1:155232204-155232214
6	NFATC1	chr1:155231491-155232656	GM12878	blood:	n/a	n/a
7	SIN3AK20	chr1:155231429-155232344	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr1:155231457-155231875	H1-hESC	embryonic stem cell:	n/a	n/a
9	ELF1	chr1:155231162-155232419	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:155231177-155232656	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:155230788-155233705	HepG2	liver:	n/a	n/a
12	SIN3AK20	chr1:155231172-155232685	MCF-7	breast:	n/a	n/a
13	POLR2A	chr1:155231071-155233080	GM12892	blood:	n/a	n/a
14	PML	chr1:155231051-155232717	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:155231227-155231654	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3AK20	chr1:155231367-155232498	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr1:155231491-155232456	MCF-7	breast:	n/a	n/a
18	POLR2A	chr1:155231314-155232527	GM12892	blood:	n/a	n/a
19	SIN3A	chr1:155231495-155232462	GM12878	blood:	n/a	chr1:155231690-155231699
20	POLR2A	chr1:155231121-155232682	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr1:155231472-155232638	A549	lung:	n/a	n/a
22	CTCF	chr1:155231460-155231610	AG04449	skin:	n/a	n/a
23	CTCF	chr1:155231540-155231690	HRE	kidney:	n/a	n/a
24	SIX5	chr1:155231522-155232674	A549	lung:	n/a	chr1:155232230-155232239 chr1:155232232-155232241 chr1:155232156-155232172 chr1:155232228-155232242 chr1:155232156-155232172
25	MAX	chr1:155231378-155232722	A549	lung:	n/a	chr1:155232153-155232162 chr1:155232204-155232214
26	POLR2A	chr1:155231489-155232476	HepG2	liver:	n/a	n/a
27	MAX	chr1:155231423-155232547	SK-N-SH	brain:	n/a	chr1:155232153-155232162 chr1:155232204-155232214
28	CTCF	chr1:155231500-155231650	GM12871	blood:	n/a	n/a
29	POLR2A	chr1:155231370-155232543	GM18505	blood:	n/a	n/a
30	MXI1	chr1:155230719-155232667	IMR90	lung:	n/a	n/a
31	CTCF	chr1:155231480-155231630	GM12869	blood:	n/a	n/a
32	MAX	chr1:155231488-155232497	K562	blood:	n/a	chr1:155232153-155232162 chr1:155232204-155232214
33	RELA	chr1:155231207-155232525	GM12891	blood:	n/a	n/a
34	POLR2A	chr1:155231107-155235305	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr1:155231396-155232711	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr1:155231257-155232897	Hela-S3	cervix:	n/a	n/a
37	USF1	chr1:155231495-155232662	HCT-116	colon:	n/a	n/a
38	CTCF	chr1:155231540-155231690	HRPEpiC	eye:	n/a	n/a
39	MAX	chr1:155231439-155232512	H1-hESC	embryonic stem cell:	n/a	chr1:155232153-155232162 chr1:155232204-155232214
40	POLR2A	chr1:155231523-155233720	SK-N-SH	brain:	n/a	n/a
41	CREB1	chr1:155231534-155232433	A549	lung:	n/a	n/a
42	MXI1	chr1:155230838-155232845	SK-N-SH	brain:	n/a	n/a
43	CHD2	chr1:155231325-155232499	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr1:155231404-155232450	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr1:155231420-155231570	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr1:155231446-155231637	IMR90	lung:	n/a	n/a
47	CTCF	chr1:155231440-155231590	Caco-2	colon:	n/a	n/a
48	CTCF	chr1:155231460-155231610	GM12864	blood:	n/a	n/a
49	SIN3AK20	chr1:155231518-155232440	A549	lung:	n/a	n/a
50	SIN3AK20	chr1:155231358-155232444	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155229082..155234937-chr1:155291248..155296864,8	K562	blood:
2	chr1:155230699..155233655-chr6:27804645..27806252,2	MCF-7	breast:
3	chr1:155230732..155234142-chr1:155291994..155295451,6	MCF-7	breast:
4	chr1:155213191..155216225-chr1:155230341..155232984,3	MCF-7	breast:
5	chr1:155175313..155180738-chr1:155230329..155234021,8	MCF-7	breast:
6	chr1:155231407..155233869-chr1:155287247..155288770,2	MCF-7	breast:
7	chr1:155231157..155233872-chr1:155289047..155290722,2	K562	blood:
8	chr1:155228693..155233633-chr1:155276892..155283389,6	K562	blood:
9	chr1:155176808..155180528-chr1:155231411..155234045,4	K562	blood:
10	chr1:155218456..155235751-chr1:155288837..155299195,44	MCF-7	breast:
11	chr1:155177282..155178806-chr1:155231376..155233429,2	K562	blood:
12	chr1:155231323..155232598-chr15:65596609..65597459,3	Hela-S3	cervix:

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

Extended variants
information (count: 108 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10128085	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1045253	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1046188	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1052176	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1052177	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1076556	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1078699	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10796940	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10908459	0.85[ASN][1000 genomes]
rs11264343	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11264345	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11264346	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11264347	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11264348	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11264349	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11264351	0.89[ASN][1000 genomes]
rs11264352	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11264353	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11264354	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11264355	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11264359	0.91[AFR][1000 genomes]
rs1142287	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11577338	0.96[ASN][1000 genomes]
rs12034326	0.86[ASN][1000 genomes]
rs12042020	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12044063	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12049375	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12067675	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12407919	0.83[ASN][1000 genomes]
rs12563994	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12723761	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12724449	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12732972	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12748155	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12749306	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1546818	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1800438	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1800442	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1807042	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2009578	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2071053	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2072647	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2075566	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2075569	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2236863	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236864	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2242577	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2361536	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2361543	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28373017	0.80[ASN][1000 genomes]
rs3020781	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34906309	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3754485	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3762272	0.86[ASN][1000 genomes]
rs3768566	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3814318	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3814319	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4043	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4620533	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56310840	0.83[ASN][1000 genomes]
rs59062514	0.86[ASN][1000 genomes]
rs59352002	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6672284	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs734073	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs734074	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs741756	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7520184	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7524950	0.81[AMR][1000 genomes]
rs7534795	0.91[AFR][1000 genomes]
rs7543234	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7549276	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7554780	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs762488	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8177968	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8847	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs932972	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9628662	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9729564	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2242576	GBAP1	cis	Artery Tibial	GTEx
rs2242576	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs2242576	GBAP1	cis	Thyroid	GTEx
rs2242576	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs2242576	GBAP1	cis	Esophagus Mucosa	GTEx
rs2242576	THBS3	cis	Whole Blood	GTEx
rs2242576	GBA	cis	Esophagus Mucosa	GTEx

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	chr1:155230400-155231600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:155230600-155231600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:155230600-155231800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:155230600-155231800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:155230800-155231600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:155230800-155231600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr1:155230800-155231600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr1:155230800-155231600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:155230800-155231600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:155230800-155231600	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr1:155230800-155231600	Flanking Active TSS	Fetal Lung	lung
13	chr1:155230800-155231600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr1:155230800-155231600	Flanking Active TSS	HMEC	breast
15	chr1:155230800-155231600	Flanking Active TSS	NH-A	brain
16	chr1:155230800-155231600	Flanking Active TSS	Osteobl	bone
17	chr1:155230800-155231800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:155230800-155231800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr1:155230800-155231800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:155230800-155231800	Flanking Active TSS	Liver	Liver
21	chr1:155230800-155231800	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr1:155230800-155231800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr1:155230800-155232400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr1:155230800-155232600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:155230800-155232600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:155231000-155231600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:155231000-155231600	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr1:155231000-155231600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:155231000-155231600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:155231000-155231600	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr1:155231000-155231600	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr1:155231000-155231600	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr1:155231000-155231600	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr1:155231000-155231600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:155231000-155231600	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr1:155231000-155231600	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr1:155231000-155231600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr1:155231000-155231600	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr1:155231000-155231800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:155231000-155231800	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr1:155231000-155231800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr1:155231000-155231800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr1:155231000-155231800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:155231000-155231800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr1:155231000-155231800	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr1:155231000-155231800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr1:155231000-155231800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr1:155231000-155231800	Flanking Active TSS	Fetal Brain Female	brain
49	chr1:155231000-155231800	Flanking Active TSS	Fetal Thymus	thymus
50	chr1:155231000-155231800	Flanking Active TSS	Stomach Smooth Muscle	stomach

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