Variant report

Variant	rs139943173
Chromosome Location	chr18:12658075-12658076
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	REST	chr18:12656487-12659001	H1-neurons	neurons:	n/a	chr18:12657226-12657239 chr18:12657214-12657227 chr18:12657237-12657257 chr18:12657223-12657232 chr18:12657237-12657257 chr18:12657238-12657256 chr18:12657344-12657357
2	MYC	chr18:12657500-12658614	MCF-7	breast:	n/a	chr18:12658406-12658415
3	MYC	chr18:12656805-12658259	K562	blood:	n/a	n/a
4	NR2F2	chr18:12658059-12658894	MCF-7	breast:	n/a	n/a
5	RAD21	chr18:12656708-12658245	IMR90	lung:	n/a	chr18:12658035-12658047
6	CCNT2	chr18:12656952-12658330	K562	blood:	n/a	n/a
7	POLR2A	chr18:12657586-12658536	GM12892	blood:	n/a	n/a
8	RFX5	chr18:12657873-12658322	Hela-S3	cervix:	n/a	n/a
9	HMGN3	chr18:12656981-12658387	K562	blood:	n/a	n/a
10	YY1	chr18:12657863-12658416	GM12891	blood:	n/a	n/a
11	MAX	chr18:12658058-12658284	K562	blood:	n/a	n/a
12	CREB1	chr18:12658035-12658519	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr18:12656882-12658588	SK-N-SH	brain:	n/a	chr18:12658406-12658415
14	ELF1	chr18:12657699-12658852	GM12878	blood:	n/a	n/a
15	HEY1	chr18:12657919-12658084	HepG2	liver:	n/a	n/a
16	TAF1	chr18:12656890-12658119	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr18:12657780-12658199	K562	blood:	n/a	n/a
18	POLR2A	chr18:12656981-12658204	K562	blood:	n/a	n/a
19	MXI1	chr18:12657915-12658827	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr18:12657815-12658414	GM19099	blood:	n/a	n/a
21	CEBPB	chr18:12658017-12658217	Hela-S3	cervix:	n/a	n/a
22	TCF12	chr18:12657927-12658342	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr18:12657796-12658274	MCF10A-Er-Src	breast:	n/a	n/a
24	EGR1	chr18:12657884-12658095	K562	blood:	n/a	n/a
25	TAF1	chr18:12657736-12658372	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr18:12657007-12658641	ProgFib	skin:	n/a	n/a
27	HEY1	chr18:12657445-12658086	K562	blood:	n/a	chr18:12657472-12657487 chr18:12657884-12657899
28	CTCF	chr18:12658008-12658077	Pancreas_OC	pancreas:	n/a	n/a
29	POLR2A	chr18:12657774-12658494	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr18:12657952-12658365	HepG2	liver:	n/a	n/a
31	CTCF	chr18:12658040-12658190	HA-sp	spinal cord:	n/a	n/a
32	SIN3A	chr18:12657617-12658947	H1-hESC	embryonic stem cell:	n/a	chr18:12657869-12657880 chr18:12657876-12657889
33	BHLHE40	chr18:12658019-12658356	HepG2	liver:	n/a	n/a
34	YY1	chr18:12657801-12658656	GM12892	blood:	n/a	n/a
35	RAD21	chr18:12657818-12658240	HepG2	liver:	n/a	chr18:12658035-12658047
36	POLR2A	chr18:12657612-12658566	GM12892	blood:	n/a	n/a
37	ZBTB7A	chr18:12658064-12658418	HepG2	liver:	n/a	n/a
38	TAF1	chr18:12657851-12658333	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr18:12657922-12658132	HepG2	liver:	n/a	n/a
40	TAF1	chr18:12657448-12658226	HepG2	liver:	n/a	n/a
41	SIN3AK20	chr18:12657785-12658133	K562	blood:	n/a	n/a
42	MAX	chr18:12656867-12658509	ECC-1	luminal epithelium:	n/a	chr18:12658406-12658415
43	POLR2A	chr18:12657755-12658356	HCT-116	colon:	n/a	n/a
44	MYC	chr18:12657843-12658465	MCF-7	breast:	n/a	chr18:12658406-12658415
45	MAX	chr18:12656928-12658839	MCF-7	breast:	n/a	chr18:12658406-12658415
46	MAX	chr18:12656924-12658481	HepG2	liver:	n/a	chr18:12658406-12658415
47	MAX	chr18:12657962-12658586	H1-hESC	embryonic stem cell:	n/a	chr18:12658406-12658415
48	FOXP2	chr18:12657459-12658467	PFSK-1	brain:	n/a	n/a
49	POLR2A	chr18:12657788-12658366	HCT-116	colon:	n/a	n/a
50	POLR2A	chr18:12657759-12658429	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12374049..12378632-chr18:12655494..12660049,8	K562	blood:
2	chr18:12656018..12659900-chr18:12701056..12705601,5	K562	blood:
3	chr18:12406559..12410304-chr18:12656888..12659730,4	MCF-7	breast:
4	chr18:12654302..12656873-chr18:12657659..12659911,2	MCF-7	breast:
5	chr18:12307735..12310451-chr18:12655693..12658579,2	MCF-7	breast:
6	chr18:12418519..12420831-chr18:12657213..12660140,3	MCF-7	breast:
7	chr18:12651259..12653780-chr18:12656567..12658681,4	MCF-7	breast:
8	chr18:12657668..12659639-chr18:12701302..12703566,3	MCF-7	breast:
9	chr18:12372972..12377735-chr18:12656683..12660675,6	K562	blood:
10	chr18:12648702..12654959-chr18:12655130..12658770,8	K562	blood:
11	chr18:12443233..12445110-chr18:12655911..12658418,2	MCF-7	breast:
12	chr18:12375685..12377446-chr18:12655932..12658656,3	MCF-7	breast:
13	chr18:12375564..12378929-chr18:12655169..12659722,7	MCF-7	breast:
14	chr18:12404079..12409500-chr18:12655702..12659746,9	K562	blood:
15	chr18:12657540..12658417-chr22:46475896..46476854,2	Hela-S3	cervix:
16	chr18:12657085..12659648-chr18:12882376..12884207,2	K562	blood:
17	chr18:12649857..12654959-chr18:12655130..12658770,11	K562	blood:

Variant related genes	Relation type
PSMG2	TF binding region
SPIRE1	TF binding region
ENSG00000215527	TF binding region
ENSG00000176014	Chromatin interaction
ENSG00000197182	Chromatin interaction
ENSG00000267199	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000175354	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000141391	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 3 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv1820040	chr18:12635601-12725236	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1817845	chr18:12635601-12733705	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Enhancers 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	20 gene(s)	inside rSNPs	diseases
8	esv1821625	chr18:12635601-12733705	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	esv1791969	chr18:12643193-12697711	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3397790	chr18:12649001-12673755	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv576497	chr18:12650900-12658293	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv576498	chr18:12650900-12658436	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	esv3436179	chr18:12655852-12660050	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	esv3323207	chr18:12656377-12658925	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	esv3424423	chr18:12656602-12659250	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	esv15559	chr18:12657165-12658579	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
17	nsv576502	chr18:12657195-12658191	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
18	nsv576503	chr18:12657195-12658293	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
19	nsv576504	chr18:12657195-12658348	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
20	esv1791807	chr18:12657195-12658403	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
21	esv1806595	chr18:12657195-12658403	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
22	esv1814607	chr18:12657195-12658403	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
23	esv1817560	chr18:12657195-12658403	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
24	esv1821736	chr18:12657195-12658403	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
25	esv1826496	chr18:12657195-12658403	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
26	esv1839500	chr18:12657195-12658403	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
27	esv1845399	chr18:12657195-12658403	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
28	esv1846598	chr18:12657195-12658403	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
29	nsv576505	chr18:12657195-12658403	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
30	esv1799324	chr18:12657195-12658436	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
31	esv1835416	chr18:12657195-12658436	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
32	esv1839195	chr18:12657195-12658436	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
33	esv1851463	chr18:12657195-12658436	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
34	nsv576506	chr18:12657195-12658436	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
35	esv1792798	chr18:12657195-12658544	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
36	esv1796191	chr18:12657195-12658544	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
37	esv1800425	chr18:12657195-12658544	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
38	esv1805335	chr18:12657195-12658544	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
39	esv1820624	chr18:12657195-12658544	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
40	esv1822643	chr18:12657195-12658544	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
41	esv1826922	chr18:12657195-12658544	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
42	esv1828732	chr18:12657195-12658544	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
43	esv1833925	chr18:12657195-12658544	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
44	esv1840930	chr18:12657195-12658544	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
45	esv1841617	chr18:12657195-12658544	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
46	esv1843040	chr18:12657195-12658544	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
47	esv1848034	chr18:12657195-12658544	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
48	nsv576507	chr18:12657195-12673187	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
49	nsv576511	chr18:12657247-12658191	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
50	nsv576512	chr18:12657247-12658293	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs139943173	SPIRE1	cis	Thyroid	GTEx
rs139943173	RP11-861E21.2	cis	Thyroid	GTEx
rs139943173	SLMO1	cis	Artery Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12653800-12670400	Weak transcription	Dnd41	blood
2	chr18:12655400-12658200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:12655400-12658200	Active TSS	Brain Germinal Matrix	brain
4	chr18:12655400-12658800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr18:12655400-12659000	Active TSS	Brain Angular Gyrus	brain
6	chr18:12655400-12659000	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr18:12655400-12659600	Active TSS	Fetal Brain Female	brain
8	chr18:12655800-12659000	Active TSS	NHLF	lung
9	chr18:12656000-12658600	Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr18:12656000-12658600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:12656000-12658600	Active TSS	HepG2	liver
12	chr18:12656000-12658600	Active TSS	NH-A	brain
13	chr18:12656000-12658600	Active TSS	NHEK	skin
14	chr18:12656000-12658800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:12656000-12659000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:12656000-12659000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:12656000-12659000	Active TSS	HSMM	muscle
18	chr18:12656000-12659200	Active TSS	HSMMtube	muscle
19	chr18:12656200-12659400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr18:12656400-12658600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr18:12656400-12658600	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr18:12656400-12658600	Active TSS	HMEC	breast
23	chr18:12656400-12658800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr18:12656400-12658800	Active TSS	NHDF-Ad	bronchial
25	chr18:12656400-12659000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:12656400-12659000	Active TSS	Stomach Smooth Muscle	stomach
27	chr18:12656400-12659000	Active TSS	A549	lung
28	chr18:12656600-12658600	Active TSS	Aorta	Aorta
29	chr18:12656600-12658600	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr18:12656600-12658800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr18:12656600-12658800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr18:12656600-12658800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr18:12656600-12658800	Active TSS	Psoas Muscle	Psoas
34	chr18:12656600-12659000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr18:12656600-12659000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:12656600-12659000	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr18:12656600-12659000	Active TSS	Muscle Satellite Cultured Cells	--
38	chr18:12656600-12659000	Active TSS	Fetal Muscle Trunk	muscle
39	chr18:12656600-12659000	Active TSS	Fetal Muscle Leg	muscle
40	chr18:12656600-12659000	Active TSS	Right Ventricle	heart
41	chr18:12656600-12659200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:12656800-12658600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:12656800-12658600	Active TSS	Lung	lung
44	chr18:12656800-12658600	Active TSS	HUVEC	blood vessel
45	chr18:12656800-12658600	Active TSS	Osteobl	bone
46	chr18:12656800-12658800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:12656800-12658800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr18:12656800-12658800	Active TSS	Brain Anterior Caudate	brain
49	chr18:12656800-12658800	Active TSS	Brain Cingulate Gyrus	brain
50	chr18:12656800-12658800	Active TSS	Esophagus	oesophagus

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