Variant report

Variant	rs7247237
Chromosome Location	chr19:18392894-18392895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:484)
CpG islands
(count:122)
Chromatin interactive
region (count:49)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:18392894-18392914	GM12878	blood:	n/a	n/a
2	HEY1	chr19:18388695-18394026	HepG2	liver:	n/a	chr19:18390515-18390530 chr19:18392424-18392439 chr19:18393317-18393332
3	HMGN3	chr19:18390210-18393435	K562	blood:	n/a	n/a
4	TAF1	chr19:18391813-18393414	H1-neurons	neurons:	n/a	n/a
5	HEY1	chr19:18392823-18393915	K562	blood:	n/a	chr19:18393317-18393332
6	RELA	chr19:18391990-18393407	GM12891	blood:	n/a	n/a
7	MAX	chr19:18391981-18393290	NB4	blood:	n/a	chr19:18392864-18392873
8	ARID3A	chr19:18392371-18393431	HepG2	liver:	n/a	n/a
9	MAX	chr19:18392533-18393116	K562	blood:	n/a	chr19:18392864-18392873
10	TAF1	chr19:18392814-18393358	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr19:18392828-18392992	SK-N-SH_RA	brain:	n/a	n/a
12	PML	chr19:18391789-18393929	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:18388084-18394020	GM12891	blood:	n/a	n/a
14	ZBTB7A	chr19:18391840-18393420	K562	blood:	n/a	n/a
15	POLR2A	chr19:18391839-18393913	K562	blood:	n/a	n/a
16	SREBP1	chr19:18392148-18393178	HepG2	liver:	n/a	chr19:18392572-18392586 chr19:18392573-18392587
17	POLR2A	chr19:18392799-18393996	GM12891	blood:	n/a	n/a
18	YY1	chr19:18392812-18393114	HepG2	liver:	n/a	n/a
19	MAX	chr19:18391759-18393276	H1-hESC	embryonic stem cell:	n/a	chr19:18392864-18392873
20	E2F6	chr19:18391977-18393080	K562	blood:	n/a	chr19:18392623-18392632 chr19:18392697-18392707
21	ZBTB7A	chr19:18392715-18393513	ECC-1	luminal epithelium:	n/a	n/a
22	E2F4	chr19:18392295-18393084	MCF10A-Er-Src	breast:	n/a	chr19:18392623-18392632 chr19:18392697-18392707
23	TAF1	chr19:18392782-18393081	HepG2	liver:	n/a	n/a
24	BRCA1	chr19:18392272-18393203	Hela-S3	cervix:	n/a	n/a
25	PML	chr19:18392786-18393365	GM12878	blood:	n/a	n/a
26	ZNF143	chr19:18391929-18393213	Hela-S3	cervix:	n/a	chr19:18392835-18392853 chr19:18392836-18392854
27	POLR2A	chr19:18388625-18393808	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr19:18392820-18393110	AG04450	lung:	n/a	n/a
29	EGR1	chr19:18392213-18393019	H1-hESC	embryonic stem cell:	n/a	chr19:18392487-18392496 chr19:18392840-18392864 chr19:18392562-18392572 chr19:18392704-18392715 chr19:18392486-18392499 chr19:18392701-18392711
30	POLR2A	chr19:18391913-18393245	Gliobla	brain:	n/a	n/a
31	ZBTB7A	chr19:18390650-18393443	K562	blood:	n/a	n/a
32	CTCF	chr19:18392820-18392970	HVMF	connective:	n/a	n/a
33	MXI1	chr19:18392084-18393081	Hela-S3	cervix:	n/a	chr19:18392573-18392588 chr19:18392571-18392586
34	CTCF	chr19:18392749-18393084	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:18391737-18394004	HCT-116	colon:	n/a	n/a
36	SIN3AK20	chr19:18392828-18393022	HepG2	liver:	n/a	n/a
37	CTCF	chr19:18392860-18393010	HRE	kidney:	n/a	n/a
38	CBX3	chr19:18391836-18394026	K562	blood:	n/a	n/a
39	POLR2A	chr19:18391909-18393279	HEK293	kidney:	n/a	n/a
40	CTCF	chr19:18392800-18392950	NHLF	lung:	n/a	n/a
41	POLR2A	chr19:18391948-18393395	GM10847	blood:	n/a	n/a
42	POLR2A	chr19:18390259-18393775	GM18526	blood:	n/a	n/a
43	POLR2A	chr19:18391754-18394016	GM12892	blood:	n/a	n/a
44	YY1	chr19:18391768-18393075	GM12891	blood:	n/a	chr19:18392705-18392714 chr19:18392699-18392708 chr19:18392420-18392434
45	POLR2A	chr19:18385002-18394564	K562	blood:	n/a	n/a
46	POLR2A	chr19:18388996-18393928	HCT-116	colon:	n/a	n/a
47	POLR2A	chr19:18391695-18393937	U87	brain:	n/a	n/a
48	RAD21	chr19:18392751-18393275	Hela-S3	cervix:	n/a	chr19:18392832-18392845
49	CTCF	chr19:18392874-18392961	LNCaP	prostate:	n/a	n/a
50	POLR2A	chr19:18391945-18393546	U87	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18392889-18392939	GM19239	blood:	n/a
2	chr19:18392889-18392939	PFSK-1	brain:	n/a
3	chr19:18392866-18392916	Hela-S3	cervix:	n/a
4	chr19:18392889-18392939	RPTEC	kidney:	n/a
5	chr19:18392866-18392916	SK-N-SH_RA	brain:	n/a
6	chr19:18392866-18392916	GM06990	blood:	n/a
7	chr19:18392889-18392939	PANC-1	pancreas:	n/a
8	chr19:18392889-18392939	NHDF-neo	bronchial:	n/a
9	chr19:18392866-18392916	CMK	blood:	n/a
10	chr19:18392866-18392916	HIPEpiC	eye:	n/a
11	chr19:18392866-18392916	SKMC	muscle:	n/a
12	chr19:18392866-18392916	K562	blood:	n/a
13	chr19:18392866-18392916	HAEpiC	amniotic membrane:	n/a
14	chr19:18392866-18392916	HCPEpiC	choroid plexus:	n/a
15	chr19:18392866-18392916	HMEC	breast:	n/a
16	chr19:18392866-18392916	NHBE	bronchial:	n/a
17	chr19:18392889-18392939	HepG2	liver:	n/a
18	chr19:18392889-18392939	CMK	blood:	n/a
19	chr19:18392889-18392939	NB4	blood:	n/a
20	chr19:18392866-18392916	MCF-7	breast:	n/a
21	chr19:18392866-18392916	HRCEpiC	kidney:	n/a
22	chr19:18392866-18392916	HCF	heart:	n/a
23	chr19:18392866-18392916	ovcar-3	ovarian:	n/a
24	chr19:18392866-18392916	BE2_C	brain:	n/a
25	chr19:18392866-18392916	PFSK-1	brain:	n/a
26	chr19:18392889-18392939	SAEC	small airway:	n/a
27	chr19:18392889-18392939	U87	brain:	n/a
28	chr19:18392866-18392916	SK-N-MC	brain:	n/a
29	chr19:18392889-18392939	GM06990	blood:	n/a
30	chr19:18392889-18392939	HCPEpiC	choroid plexus:	n/a
31	chr19:18392866-18392916	T-47D	breast:	n/a
32	chr19:18392889-18392939	HMEC	breast:	n/a
33	chr19:18392866-18392916	HEK293	kidney:	embryo
34	chr19:18392866-18392916	NHDF-neo	bronchial:	n/a
35	chr19:18392866-18392916	IMR90	lung:	fetal
36	chr19:18392889-18392939	BJ	skin:	n/a
37	chr19:18392889-18392939	HRCEpiC	kidney:	n/a
38	chr19:18392889-18392939	PrEC	prostate:	n/a
39	chr19:18392889-18392939	HL-60	blood:	n/a
40	chr19:18392866-18392916	AoSMC	blood vessel:	n/a
41	chr19:18392866-18392916	NT2-D1	testis:	n/a
42	chr19:18392889-18392939	HRE	kidney:	n/a
43	chr19:18392889-18392939	A549	lung:	n/a
44	chr19:18392866-18392916	PrEC	prostate:	n/a
45	chr19:18392889-18392939	HCF	heart:	n/a
46	chr19:18392889-18392939	HRPEpiC	eye:	n/a
47	chr19:18392889-18392939	AG04449	skin:	fetal
48	chr19:18392889-18392939	MCF-7	breast:	n/a
49	chr19:18392889-18392939	NHBE	bronchial:	n/a
50	chr19:18392889-18392939	GM12892	blood:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18311216..18316508-chr19:18389022..18394678,9	MCF-7	breast:
2	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
3	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
4	chr19:18388423..18395098-chr19:18483334..18487110,13	K562	blood:
5	chr19:18392120..18393655-chr19:18544047..18545817,2	K562	blood:
6	chr19:18331499..18333593-chr19:18390857..18393584,2	MCF-7	breast:
7	chr19:18388472..18395098-chr19:18481027..18487774,21	K562	blood:
8	chr19:18391038..18394210-chr19:18525828..18530797,8	MCF-7	breast:
9	chr19:18392831..18393459-chr19:18433529..18434138,2	MCF-7	breast:
10	chr19:18303093..18307365-chr19:18386584..18393500,10	K562	blood:
11	chr19:18313659..18316582-chr19:18386529..18393683,9	K562	blood:
12	chr19:18260692..18269532-chr19:18383927..18395911,19	K562	blood:
13	chr19:18387676..18394124-chr19:18495437..18503905,30	K562	blood:
14	chr16:89988316..89991221-chr19:18390772..18393694,2	MCF-7	breast:
15	chr19:18392359..18393028-chr2:85766012..85766544,2	HCT-116	colon:
16	chr19:18391400..18392944-chr19:18520489..18523439,2	MCF-7	breast:
17	chr19:18384108..18395354-chr19:18534355..18544725,18	K562	blood:
18	chr19:18207827..18209431-chr19:18390333..18393371,3	K562	blood:
19	chr19:18382564..18395263-chr19:18409643..18446343,165	MCF-7	breast:
20	chr19:18392755..18393675-chr19:18433326..18433935,2	Hela-S3	cervix:
21	chr19:18388917..18393354-chr19:18447866..18453758,9	MCF-7	breast:
22	chr19:18392874..18395450-chr19:18668198..18669959,2	K562	blood:
23	chr19:18334725..18337698-chr19:18389039..18394023,6	K562	blood:
24	chr19:18390025..18394312-chr19:18496571..18499733,6	MCF-7	breast:
25	chr16:89118958..89119704-chr19:18392729..18393373,2	HCT-116	colon:
26	chr12:105629542..105630454-chr19:18392234..18393176,2	Hela-S3	cervix:
27	chr19:18392847..18393587-chr19:18433419..18434033,2	NB4	blood:
28	chr19:18332417..18336925-chr19:18388887..18394072,11	K562	blood:
29	chr19:18392266..18394628-chr19:18631659..18634590,3	K562	blood:
30	chr19:18111363..18113248-chr19:18391327..18393546,2	MCF-7	breast:
31	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
32	chr19:18391389..18392894-chr19:18547544..18549932,2	MCF-7	breast:
33	chr19:18391626..18394860-chr19:18506004..18508591,3	K562	blood:
34	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
35	chr19:18392750..18393443-chr5:139936604..139937135,2	NB4	blood:
36	chr19:18392013..18392940-chr21:33031666..33032209,2	HCT-116	colon:
37	chr19:18390778..18393256-chr19:55897402..55899140,2	MCF-7	breast:
38	chr19:18301148..18305001-chr19:18389528..18394862,10	MCF-7	breast:
39	chr19:18283376..18285047-chr19:18391434..18393918,2	K562	blood:
40	chr19:18341889..18345577-chr19:18390952..18393616,3	K562	blood:
41	chr19:18303589..18305920-chr19:18390305..18393671,4	K562	blood:
42	chr1:243417487..243418296-chr19:18392512..18393284,2	Hela-S3	cervix:
43	chr19:18388462..18393408-chr19:18545945..18551144,14	K562	blood:
44	chr19:18388807..18393519-chr19:18545945..18551144,10	K562	blood:
45	chr19:18116541..18118354-chr19:18390841..18393418,2	MCF-7	breast:
46	chr19:18390598..18392958-chr5:172754478..172756300,2	MCF-7	breast:
47	chr19:18392892..18393517-chr19:18402516..18403075,2	MCF-7	breast:
48	chr19:18390145..18394362-chr19:18451018..18457221,11	MCF-7	breast:
49	chr11:62608551..62609631-chr19:18392125..18393216,3	NB4	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PGPEP1-5	chr19:18392659-18393560	NONHSAT062954

No data

Variant related genes	Relation type
JUND	TF binding region
JUND	CpG island
ENSG00000256982	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000136044	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000113739	Chromatin interaction
ENSG00000269145	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000239821	Chromatin interaction
ENSG00000143702	Chromatin interaction
ENSG00000216490	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000213523	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000234509	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000259006	Chromatin interaction
ENSG00000142168	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000258947	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000105643	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1079165	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1079166	0.92[ASN][1000 genomes]
rs10854164	0.95[ASN][1000 genomes]
rs12459276	0.84[EUR][1000 genomes]
rs12460547	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12461261	0.92[ASN][1000 genomes]
rs12461701	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12461751	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1421720	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1549143	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17711565	0.82[ASN][1000 genomes]
rs41347350	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41481544	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808125	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808778	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57090641	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58555271	0.83[EUR][1000 genomes]
rs59961449	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60086589	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60170051	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62120437	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7247767	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7248070	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8103549	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats 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	136 gene(s)	inside rSNPs	diseases
4	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription 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	167 gene(s)	inside rSNPs	diseases
6	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
7	nsv911268	chr19:18351674-18395537	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
8	nsv911269	chr19:18351674-18418044	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
9	nsv911270	chr19:18351674-18422364	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
10	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	135 gene(s)	inside rSNPs	diseases
11	nsv828472	chr19:18377725-18404131	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
12	esv1833305	chr19:18378219-18408222	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
13	nsv911272	chr19:18378219-18439383	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
14	esv1793726	chr19:18381600-18400786	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	104 gene(s)	inside rSNPs	diseases
15	nsv911273	chr19:18386798-18454825	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	134 gene(s)	inside rSNPs	diseases
16	esv18473	chr19:18390503-18393159	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	96 gene(s)	inside rSNPs	diseases
17	esv1816229	chr19:18390863-18393112	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	93 gene(s)	inside rSNPs	diseases
18	esv1801759	chr19:18391070-18393112	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	93 gene(s)	inside rSNPs	diseases
19	nsv578750	chr19:18391070-18393112	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	93 gene(s)	inside rSNPs	diseases
20	esv1801478	chr19:18391070-18395537	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	93 gene(s)	inside rSNPs	diseases
21	nsv578754	chr19:18391074-18393112	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	93 gene(s)	inside rSNPs	diseases
22	nsv578757	chr19:18391171-18392936	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	91 gene(s)	inside rSNPs	diseases
23	esv3439376	chr19:18391377-18393925	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7247237	KIAA1683	cis	cerebellar cortex	BrainEAC
rs7247237	KIAA1683	cis	Skin Sun Exposed Lower leg	GTEx
rs7247237	KIAA1683	cis	Thyroid	GTEx
rs7247237	KIAA1683	cis	brain	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18389800-18393200	Active TSS	Aorta	Aorta
2	chr19:18389800-18393200	Active TSS	Small Intestine	intestine
3	chr19:18389800-18393600	Active TSS	Ovary	ovary
4	chr19:18389800-18393800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr19:18390000-18393000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:18390000-18393200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:18390000-18393200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:18390000-18393400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:18390000-18393600	Active TSS	Esophagus	oesophagus
10	chr19:18390000-18393800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr19:18390000-18394000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr19:18390200-18393000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:18390200-18393000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:18390200-18393000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:18390200-18393000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:18390200-18393000	Active TSS	Muscle Satellite Cultured Cells	--
17	chr19:18390200-18393000	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr19:18390200-18393000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:18390200-18393000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:18390200-18393000	Active TSS	Brain Substantia Nigra	brain
21	chr19:18390200-18393000	Active TSS	Colonic Mucosa	Colon
22	chr19:18390200-18393000	Active TSS	Thymus	Thymus
23	chr19:18390200-18393000	Active TSS	GM12878-XiMat	blood
24	chr19:18390200-18393000	Active TSS	Hela-S3	cervix
25	chr19:18390200-18393000	Active TSS	HSMM	muscle
26	chr19:18390200-18393000	Active TSS	K562	blood
27	chr19:18390200-18393200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr19:18390200-18393200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:18390200-18393200	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr19:18390200-18393200	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr19:18390200-18393200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:18390200-18393200	Active TSS	Primary hematopoietic stem cells	blood
33	chr19:18390200-18393200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:18390200-18393200	Active TSS	Brain Angular Gyrus	brain
35	chr19:18390200-18393200	Active TSS	Brain Cingulate Gyrus	brain
36	chr19:18390200-18393200	Active TSS	Brain Hippocampus Middle	brain
37	chr19:18390200-18393200	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr19:18390200-18393200	Active TSS	Left Ventricle	heart
39	chr19:18390200-18393200	Active TSS	Pancreas	Pancrea
40	chr19:18390200-18393400	Active TSS	Lung	lung
41	chr19:18390200-18393800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr19:18390200-18393800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:18390200-18393800	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr19:18390400-18393000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:18390400-18393000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:18390400-18393000	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr19:18390400-18393000	Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr19:18390400-18393000	Active TSS	Primary B cells from cord blood	blood
49	chr19:18390400-18393000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:18390400-18393000	Active TSS	Primary T helper naive cells from peripheral blood	blood

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