Variant report

Variant	rs12411216
Chromosome Location	chr1:155164480-155164481
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	POLR2A	chr1:155163965-155164961	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr1:155162272-155165472	K562	blood:	n/a	n/a
3	POLR2A	chr1:155163074-155166532	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr1:155164004-155165023	HUVEC	blood vessel:	n/a	n/a
5	BACH1	chr1:155164127-155164777	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr1:155164104-155164807	NB4	blood:	n/a	chr1:155164304-155164311 chr1:155164726-155164735 chr1:155164303-155164312
7	GTF2F1	chr1:155164239-155164950	K562	blood:	n/a	n/a
8	MAX	chr1:155164090-155164892	GM12878	blood:	n/a	chr1:155164304-155164311 chr1:155164726-155164735 chr1:155164834-155164844 chr1:155164303-155164312
9	POLR2A	chr1:155162132-155164884	K562	blood:	n/a	n/a
10	MYC	chr1:155164068-155164584	HUVEC	blood vessel:	n/a	chr1:155164304-155164311 chr1:155164303-155164312
11	HCFC1	chr1:155164117-155164881	K562	blood:	n/a	n/a
12	ZNF143	chr1:155164200-155164950	H1-hESC	embryonic stem cell:	n/a	chr1:155164265-155164284
13	EP300	chr1:155164302-155164841	K562	blood:	n/a	chr1:155164542-155164558
14	KAP1	chr1:155164142-155164740	HEK293	kidney:	n/a	n/a
15	CHD2	chr1:155164109-155164943	K562	blood:	n/a	n/a
16	SIN3AK20	chr1:155164090-155164995	SK-N-SH	brain:	n/a	n/a
17	ATF3	chr1:155164292-155164893	A549	lung:	n/a	chr1:155164567-155164580 chr1:155164569-155164576 chr1:155164565-155164578 chr1:155164569-155164579 chr1:155164566-155164579 chr1:155164566-155164579 chr1:155164712-155164726 chr1:155164565-155164580 chr1:155164568-155164579 chr1:155164567-155164578 chr1:155164569-155164579
18	USF2	chr1:155164153-155164612	GM12878	blood:	n/a	n/a
19	ELK1	chr1:155164278-155164830	GM12878	blood:	n/a	n/a
20	ELF1	chr1:155164088-155165049	MCF-7	breast:	n/a	n/a
21	CREB1	chr1:155164068-155165014	GM12878	blood:	n/a	n/a
22	E2F6	chr1:155163317-155164932	K562	blood:	n/a	chr1:155163429-155163441 chr1:155164569-155164578 chr1:155164600-155164609 chr1:155164567-155164576
23	TBL1XR1	chr1:155164147-155164852	K562	blood:	n/a	n/a
24	PBX3	chr1:155164077-155165005	A549	lung:	n/a	n/a
25	POLR2A	chr1:155164071-155164936	SK-N-SH	brain:	n/a	n/a
26	BCL3	chr1:155162937-155164820	A549	lung:	n/a	n/a
27	E2F6	chr1:155164097-155164622	K562	blood:	n/a	chr1:155164569-155164578 chr1:155164600-155164609 chr1:155164567-155164576
28	REST	chr1:155164181-155164626	K562	blood:	n/a	chr1:155164548-155164561 chr1:155164385-155164405 chr1:155164545-155164558
29	POLR2A	chr1:155162957-155165037	PANC-1	pancreas:	n/a	n/a
30	MYC	chr1:155164114-155164840	H1-hESC	embryonic stem cell:	n/a	chr1:155164304-155164311 chr1:155164726-155164735 chr1:155164303-155164312
31	SIX5	chr1:155162885-155164832	A549	lung:	n/a	n/a
32	EGR1	chr1:155164311-155164817	K562	blood:	n/a	chr1:155164664-155164688 chr1:155164591-155164601 chr1:155164548-155164558 chr1:155164586-155164596
33	MAX	chr1:155164129-155164863	K562	blood:	n/a	chr1:155164304-155164311 chr1:155164726-155164735 chr1:155164834-155164844 chr1:155164303-155164312
34	ATF2	chr1:155164399-155164767	GM12878	blood:	n/a	chr1:155164567-155164578 chr1:155164565-155164579
35	MAX	chr1:155162801-155165034	ECC-1	luminal epithelium:	n/a	chr1:155164304-155164311 chr1:155164726-155164735 chr1:155163756-155163766 chr1:155164834-155164844 chr1:155162945-155162955 chr1:155164303-155164312
36	MAX	chr1:155164031-155164853	K562	blood:	n/a	chr1:155164304-155164311 chr1:155164726-155164735 chr1:155164834-155164844 chr1:155164303-155164312
37	ZBTB7A	chr1:155164181-155164976	K562	blood:	n/a	n/a
38	TCF7L2	chr1:155164211-155164888	Hela-S3	cervix:	n/a	n/a
39	MAZ	chr1:155162533-155164983	Hela-S3	cervix:	n/a	chr1:155164304-155164311 chr1:155164726-155164735 chr1:155163756-155163766 chr1:155164834-155164844 chr1:155162945-155162955 chr1:155164303-155164312
40	SIN3AK20	chr1:155164122-155164971	K562	blood:	n/a	n/a
41	TAF1	chr1:155164272-155164743	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr1:155164027-155164961	Hela-S3	cervix:	n/a	n/a
43	CHD1	chr1:155164228-155164624	GM12878	blood:	n/a	n/a
44	HEY1	chr1:155164036-155164932	K562	blood:	n/a	chr1:155164567-155164576 chr1:155164569-155164578 chr1:155164334-155164349
45	ZBTB7A	chr1:155164270-155164793	K562	blood:	n/a	n/a
46	CREB1	chr1:155164062-155165040	HepG2	liver:	n/a	n/a
47	GTF2F1	chr1:155164163-155164931	H1-hESC	embryonic stem cell:	n/a	n/a
48	GTF3C2	chr1:155163228-155164801	K562	blood:	n/a	n/a
49	MYC	chr1:155162857-155164895	K562	blood:	n/a	chr1:155164304-155164311 chr1:155164726-155164735 chr1:155163756-155163766 chr1:155164834-155164844 chr1:155162945-155162955 chr1:155164303-155164312
50	ATF3	chr1:155164014-155164924	A549	lung:	n/a	chr1:155164567-155164580 chr1:155164569-155164576 chr1:155164565-155164578 chr1:155164569-155164579 chr1:155164566-155164579 chr1:155164566-155164579 chr1:155164712-155164726 chr1:155164565-155164580 chr1:155164568-155164579 chr1:155164567-155164578 chr1:155164569-155164579

No.	Distal block	Cell Line	Cell type
1	chr1:155162819..155165123-chr1:155223142..155225278,3	K562	blood:
2	chr1:155096309..155104200-chr1:155157595..155166389,23	MCF-7	breast:
3	chr1:155162165..155164633-chr1:155276991..155278874,2	K562	blood:
4	chr1:155163968..155164535-chr8:99057424..99058090,2	Hela-S3	cervix:
5	chr1:155164217..155165180-chr17:34957585..34958132,2	Hela-S3	cervix:
6	chr1:155164185..155164694-chr14:23564265..23564806,2	Hela-S3	cervix:
7	chr1:155163156..155164893-chr1:155532696..155534228,2	K562	blood:
8	chr1:155161998..155167332-chr1:155208163..155212538,6	K562	blood:
9	chr1:155163394..155164688-chr5:39074461..39075271,3	Hela-S3	cervix:
10	chr1:155164294..155166772-chr1:155270473..155272083,2	K562	blood:
11	chr1:154192824..154195193-chr1:155162794..155164640,2	K562	blood:
12	chr1:155090194..155092132-chr1:155163035..155164929,2	MCF-7	breast:
13	chr1:155162384..155165288-chr1:155195792..155197762,4	MCF-7	breast:
14	chr1:155164065..155164688-chr5:40833264..40834066,2	Hela-S3	cervix:
15	chr1:154945649..154947897-chr1:155163027..155164595,2	K562	blood:
16	chr1:155162750..155164739-chr1:155293098..155295016,2	MCF-7	breast:
17	chr1:155160177..155166575-chr1:155191666..155199927,14	MCF-7	breast:
18	chr1:155162847..155164513-chr1:155220020..155222402,2	K562	blood:
19	chr1:155162741..155164778-chr1:155231161..155233767,3	K562	blood:
20	chr1:155163602..155164530-chr16:87424972..87425797,2	Hela-S3	cervix:
21	chr1:155162487..155164653-chr1:155579583..155581273,2	K562	blood:
22	chr1:155052798..155059451-chr1:155162483..155166744,9	K562	blood:
23	chr1:155164440..155165145-chr17:41465397..41466199,2	Hela-S3	cervix:
24	chr1:155164001..155164833-chr17:41392833..41393515,2	Hela-S3	cervix:
25	chr1:51441445..51442430-chr1:155163814..155164694,2	Hela-S3	cervix:
26	chr1:154944711..154947532-chr1:155161851..155164798,3	MCF-7	breast:
27	chr1:155163241..155165710-chr1:155212950..155214666,2	MCF-7	breast:
28	chr1:155164184..155164715-chr10:114833652..114834357,2	Hela-S3	cervix:
29	chr1:155023801..155025386-chr1:155162454..155164656,2	MCF-7	breast:
30	chr1:155161598..155164529-chr1:155278690..155280381,2	MCF-7	breast:
31	chr1:155164474..155166178-chr1:155292022..155293780,2	K562	blood:
32	chr1:155161236..155164985-chr1:155290580..155295192,7	K562	blood:
33	chr1:155163130..155164699-chr1:155531249..155533264,2	K562	blood:
34	chr1:155105295..155110704-chr1:155161873..155165835,7	K562	blood:
35	chr1:155163991..155164675-chr11:75110046..75110817,2	Hela-S3	cervix:
36	chr1:155034206..155036966-chr1:155163322..155165857,2	MCF-7	breast:
37	chr1:155049427..155051718-chr1:155163518..155166382,2	K562	blood:
38	chr1:155055270..155058458-chr1:155162731..155164725,3	MCF-7	breast:
39	chr1:15759356..15759865-chr1:155164257..155164763,2	Hela-S3	cervix:
40	chr1:155163624..155164561-chr19:39899857..39900792,2	Hela-S3	cervix:
41	chr1:155163805..155164619-chr19:12901982..12902698,2	Hela-S3	cervix:
42	chr1:155162564..155164989-chr17:57968115..57970881,2	MCF-7	breast:
43	chr1:155160390..155165295-chr1:155194589..155199400,14	K562	blood:
44	chr1:155163753..155165613-chr1:155247738..155249904,2	K562	blood:
45	chr1:154192824..154194792-chr1:155163140..155164963,2	K562	blood:
46	chr1:155056530..155058756-chr1:155164406..155166791,2	MCF-7	breast:
47	chr1:155055391..155058180-chr1:155162719..155165085,4	K562	blood:
48	chr1:155164250..155165199-chr3:172468181..172469052,3	Hela-S3	cervix:
49	chr1:155106165..155110704-chr1:155161873..155165835,8	K562	blood:
50	chr1:155111495..155114008-chr1:155163515..155166006,3	K562	blood:

Variant related genes	Relation type
MIR92B	TF binding region
ENSG00000273088	TF binding region
MUC1	TF binding region
ENSG00000231064	TF binding region
ENSG00000270800	Chromatin interaction
ENSG00000266559	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000064199	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000110013	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000161204	Chromatin interaction
ENSG00000160752	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000143627	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000129282	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000235919	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000251246	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000125459	Chromatin interaction
ENSG00000203761	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000156482	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000116539	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000114346	Chromatin interaction
ENSG00000124614	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000173207	Chromatin interaction
ENSG00000243364	Chromatin interaction
ENSG00000140941	Chromatin interaction
ENSG00000232519	Chromatin interaction
ENSG00000103264	Chromatin interaction
ENSG00000100813	Chromatin interaction
ENSG00000179085	Chromatin interaction
ENSG00000164327	Chromatin interaction
ENSG00000179933	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1057941	0.84[ASN][1000 genomes]
rs11264337	0.83[ASN][1000 genomes]
rs11264338	0.83[ASN][1000 genomes]
rs11264339	0.85[ASN][1000 genomes]
rs12407919	0.81[AFR][1000 genomes]
rs12752585	0.83[ASN][1000 genomes]
rs2049805	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2066981	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2070803	0.81[ASN][1000 genomes]
rs2075569	0.81[AFR][1000 genomes]
rs2075570	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2075571	0.82[ASN][1000 genomes]
rs28445596	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2974929	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2974930	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2974931	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2974935	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2974937	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2990220	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2990245	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs370545	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3754485	0.81[AFR][1000 genomes]
rs4072037	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs423144	0.83[ASN][1000 genomes]
rs4276914	0.85[ASN][1000 genomes]
rs4421576	0.85[ASN][1000 genomes]
rs4460629	0.83[ASN][1000 genomes]
rs4971085	0.83[ASN][1000 genomes]
rs4971088	0.87[ASN][1000 genomes]
rs4971089	0.85[ASN][1000 genomes]
rs4971100	0.81[ASN][1000 genomes]
rs4971101	0.81[ASN][1000 genomes]
rs497829	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7366775	0.82[ASN][1000 genomes]
rs7556304	0.83[ASN][1000 genomes]
rs760077	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs914615	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9426886	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
4	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
9	nsv1010146	chr1:155119096-155201064	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv872458	chr1:155146102-155180466	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	316 gene(s)	inside rSNPs	diseases
13	nsv872459	chr1:155149718-155169633	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases
14	nsv527682	chr1:155149718-155197462	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers 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	361 gene(s)	inside rSNPs	diseases
15	nsv872461	chr1:155151493-155169633	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases
16	nsv872462	chr1:155151493-155172177	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases
17	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
18	nsv872463	chr1:155155731-155169633	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases
19	nsv872465	chr1:155157853-155169633	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs12411216	GBAP1	cis	Thyroid	GTEx
rs12411216	GBAP1	cis	Artery Tibial	GTEx
rs12411216	GBAP1	cis	Artery Aorta	GTEx
rs12411216	GBAP1	cis	Esophagus Mucosa	GTEx
rs12411216	GBAP1	cis	lung	GTEx
rs12411216	GBA///GBAP	Cis_1M	lymphoblastoid	RTeQTL
rs12411216	GBAP1	cis	Heart Left Ventricle	GTEx
rs12411216	GBA	cis	Esophagus Mucosa	GTEx
rs12411216	RP11-263K19.4	cis	Whole Blood	GTEx
rs12411216	GBAP1	cis	Esophagus Muscularis	GTEx
rs12411216	GBAP1	cis	Adipose Subcutaneous	GTEx
rs12411216	THBS3	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155161800-155164600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:155161800-155165600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:155162200-155164600	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr1:155162200-155165400	Active TSS	Fetal Kidney	kidney
5	chr1:155162400-155165000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr1:155162400-155165000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr1:155162400-155165000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:155162600-155165400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:155162600-155165800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr1:155162600-155166200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:155162600-155166200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:155162600-155166400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:155162600-155166400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:155162800-155164600	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr1:155162800-155164600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:155162800-155164600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr1:155162800-155164600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:155162800-155164600	Flanking Active TSS	GM12878-XiMat	blood
19	chr1:155162800-155164800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr1:155162800-155164800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr1:155162800-155164800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:155162800-155164800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:155162800-155165000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:155162800-155165000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:155162800-155165800	Flanking Active TSS	Dnd41	blood
26	chr1:155162800-155166400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:155162800-155166400	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr1:155162800-155166400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:155163000-155164600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr1:155163000-155164600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr1:155163000-155164600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:155163000-155164600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:155163000-155164600	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr1:155163000-155164600	Flanking Active TSS	HMEC	breast
35	chr1:155163000-155164800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr1:155163000-155165000	Active TSS	Aorta	Aorta
37	chr1:155163000-155165000	Flanking Active TSS	Placenta	Placenta
38	chr1:155163000-155165200	Active TSS	Psoas Muscle	Psoas
39	chr1:155163000-155165400	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr1:155163000-155165600	Flanking Active TSS	Fetal Muscle Trunk	muscle
41	chr1:155163000-155165800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:155163000-155166200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:155163000-155166600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:155163200-155164600	Flanking Active TSS	Colonic Mucosa	Colon
45	chr1:155163200-155165400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:155163200-155165400	Active TSS	Ovary	ovary
47	chr1:155163200-155165400	Active TSS	A549	lung
48	chr1:155163200-155166400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:155163400-155164800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
50	chr1:155163400-155164800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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