Variant report

Variant	esv3392352
Chromosome Location	chr19:18715977-18718525
allele	n/a
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	BACH1	chr19:18716303-18716492	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr19:18718171-18718685	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPD	chr19:18716724-18717146	HepG2	liver:	n/a	n/a
4	CTCF	chr19:18716312-18716333	MCF-7	breast:	n/a	n/a
5	CTCF	chr19:18716942-18717011	HepG2	liver:	n/a	chr19:18716976-18716989
6	CTCF	chr19:18716940-18717090	AG09319	gingival:	n/a	chr19:18716940-18716953 chr19:18716976-18716989
7	CTCF	chr19:18716865-18717069	HepG2	liver:	n/a	chr19:18716940-18716953 chr19:18716976-18716989
8	CTCF	chr19:18718480-18718630	AoAF	blood vessel:	n/a	n/a
9	CTCF	chr19:18716880-18717030	HepG2	liver:	n/a	chr19:18716940-18716953 chr19:18716976-18716989
10	CTCF	chr19:18716960-18717110	HepG2	liver:	n/a	chr19:18716976-18716989
11	CTCF	chr19:18716940-18717090	WERI-Rb-1	eye:	n/a	chr19:18716940-18716953 chr19:18716976-18716989
12	CTCF	chr19:18716350-18716382	MCF-7	breast:	n/a	n/a
13	FOS	chr19:18718437-18718654	MCF10A-Er-Src	breast:	n/a	chr19:18718543-18718551
14	FOS	chr19:18718474-18718612	MCF10A-Er-Src	breast:	n/a	chr19:18718543-18718551
15	GABPA	chr19:18716911-18717349	H1-hESC	embryonic stem cell:	n/a	n/a
16	GABPA	chr19:18717099-18717439	H1-hESC	embryonic stem cell:	n/a	n/a
17	HDAC2	chr19:18718069-18718602	HepG2	liver:	n/a	chr19:18718230-18718244 chr19:18718231-18718245 chr19:18718234-18718248
18	HDAC2	chr19:18716703-18717222	HepG2	liver:	n/a	chr19:18717166-18717185
19	HEY1	chr19:18716781-18717239	HepG2	liver:	n/a	chr19:18717219-18717234 chr19:18716875-18716890 chr19:18716887-18716902 chr19:18716863-18716878
20	HEY1	chr19:18717387-18717965	HepG2	liver:	n/a	n/a
21	HEY1	chr19:18716909-18717268	HepG2	liver:	n/a	chr19:18717219-18717234
22	HEY1	chr19:18717475-18717636	HepG2	liver:	n/a	n/a
23	HNF4A	chr19:18716843-18717191	HepG2	liver:	n/a	chr19:18717013-18717025 chr19:18717011-18717026
24	HNF4A	chr19:18716763-18717157	HepG2	liver:	n/a	chr19:18717013-18717025 chr19:18717011-18717026
25	HNF4G	chr19:18716817-18717093	HepG2	liver:	n/a	chr19:18717013-18717025
26	MAX	chr19:18716685-18717362	HepG2	liver:	n/a	chr19:18717315-18717325 chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976
27	MAX	chr19:18716950-18717158	HepG2	liver:	n/a	chr19:18716978-18716988 chr19:18716969-18716976
28	MAX	chr19:18716141-18717800	HepG2	liver:	n/a	chr19:18717315-18717325 chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976 chr19:18716668-18716678
29	MAZ	chr19:18716840-18717073	HepG2	liver:	n/a	chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976
30	MYC	chr19:18716352-18716515	MCF-7	breast:	n/a	n/a
31	MYC	chr19:18716417-18716424	MCF-7	breast:	n/a	n/a
32	MYC	chr19:18716276-18716400	MCF-7	breast:	n/a	n/a
33	MYC	chr19:18716837-18717194	HepG2	liver:	n/a	chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976
34	MYC	chr19:18716435-18716463	MCF-7	breast:	n/a	n/a
35	MYC	chr19:18716330-18716428	HepG2	liver:	n/a	n/a
36	POLR2A	chr19:18717469-18717640	HepG2	liver:	n/a	n/a
37	POLR2A	chr19:18717534-18717678	MCF-7	breast:	n/a	n/a
38	POLR2A	chr19:18716009-18718542	HepG2	liver:	n/a	n/a
39	POLR2A	chr19:18717483-18717656	HepG2	liver:	n/a	n/a
40	POLR2A	chr19:18716254-18716502	MCF-7	breast:	n/a	n/a
41	POLR2A	chr19:18716216-18716225	MCF-7	breast:	n/a	n/a
42	POLR2A	chr19:18716943-18717203	HepG2	liver:	n/a	n/a
43	POLR2A	chr19:18717504-18717710	MCF-7	breast:	n/a	n/a
44	POLR2A	chr19:18718066-18718415	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr19:18717556-18717583	ProgFib	skin:	n/a	n/a
46	POLR2A	chr19:18716332-18716456	ProgFib	skin:	n/a	n/a
47	POLR2A	chr19:18717392-18717633	MCF-7	breast:	n/a	n/a
48	POLR2A	chr19:18716226-18716241	MCF-7	breast:	n/a	n/a
49	POLR2A	chr19:18716302-18716461	MCF-7	breast:	n/a	n/a
50	POLR2A	chr19:18716895-18717751	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18717742-18717792	ovcar-3	ovarian:	n/a
2	chr19:18717638-18717688	NB4	blood:	n/a
3	chr19:18717770-18717820	HepG2	liver:	n/a
4	chr19:18717080-18717130	NH-A	brain:	n/a
5	chr19:18717783-18717833	SK-N-SH	brain:	n/a
6	chr19:18717036-18717086	HRPEpiC	eye:	n/a
7	chr19:18716439-18716489	NB4	blood:	n/a
8	chr19:18717783-18717833	NHDF-neo	bronchial:	n/a
9	chr19:18716439-18716489	GM12891	blood:	n/a
10	chr19:18717742-18717792	H1-hESC	embryonic stem cell:	embryo
11	chr19:18717770-18717820	GM19239	blood:	n/a
12	chr19:18717080-18717130	GM06990	blood:	n/a
13	chr19:18717036-18717086	HIPEpiC	eye:	n/a
14	chr19:18717783-18717833	GM19239	blood:	n/a
15	chr19:18717638-18717688	RPTEC	kidney:	n/a
16	chr19:18717742-18717792	HepG2	liver:	n/a
17	chr19:18717783-18717833	HNPCEpiC	eye:	n/a
18	chr19:18717742-18717792	SK-N-SH	brain:	n/a
19	chr19:18717641-18717691	T-47D	breast:	n/a
20	chr19:18717781-18717831	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:18716527-18716577	HRE	kidney:	n/a
22	chr19:18717783-18717833	GM12892	blood:	n/a
23	chr19:18717641-18717691	SK-N-MC	brain:	n/a
24	chr19:18716527-18716577	MCF-7	breast:	n/a
25	chr19:18717781-18717831	MCF-7	breast:	n/a
26	chr19:18716439-18716489	IMR90	lung:	fetal
27	chr19:18717770-18717820	SKMC	muscle:	n/a
28	chr19:18717783-18717833	AoSMC	blood vessel:	n/a
29	chr19:18717641-18717691	NH-A	brain:	n/a
30	chr19:18717036-18717086	SK-N-SH_RA	brain:	n/a
31	chr19:18717036-18717086	NH-A	brain:	n/a
32	chr19:18716499-18716549	GM06990	blood:	n/a
33	chr19:18716439-18716489	ProgFib	skin:	n/a
34	chr19:18716499-18716549	MCF10A-Er-Src	breast:	n/a
35	chr19:18717770-18717820	CMK	blood:	n/a
36	chr19:18717742-18717792	HEEpiC	esophagus:	n/a
37	chr19:18716499-18716549	Caco-2	colon:	n/a
38	chr19:18717638-18717688	CMK	blood:	n/a
39	chr19:18717080-18717130	A549	lung:	n/a
40	chr19:18717770-18717820	Hepatocyte	liver:	n/a
41	chr19:18717036-18717086	BE2_C	brain:	n/a
42	chr19:18717036-18717086	HL-60	blood:	n/a
43	chr19:18716439-18716489	GM12878	blood:	n/a
44	chr19:18718202-18718252	GM06990	blood:	n/a
45	chr19:18716527-18716577	NHDF-neo	bronchial:	n/a
46	chr19:18718202-18718252	T-47D	breast:	n/a
47	chr19:18717638-18717688	LNCaP	prostate:	n/a
48	chr19:18717080-18717130	AG09319	gingival:	n/a
49	chr19:18717638-18717688	HRE	kidney:	n/a
50	chr19:18716230-18716280	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18703614..18706295-chr19:18717142..18718647,2	MCF-7	breast:
2	chr19:18713933..18717054-chr19:18723624..18727026,3	K562	blood:
3	chr19:18717575..18719687-chr19:18746806..18748857,2	K562	blood:
4	chr19:18714258..18716711-chr19:18719461..18722423,3	K562	blood:
5	chr19:18715795..18719274-chr19:18719391..18724999,7	MCF-7	breast:
6	chr19:18546602..18548402-chr19:18715878..18718027,2	MCF-7	breast:
7	chr19:18713204..18718867-chr19:18719015..18725496,7	MCF-7	breast:
8	chr19:18713980..18716446-chr19:18757354..18760125,2	K562	blood:
9	chr19:18714423..18716001-chr19:18720923..18723094,2	K562	blood:
10	chr19:18714829..18718349-chr19:18723409..18727026,4	K562	blood:
11	chr19:18716807..18719687-chr19:18745756..18748857,3	K562	blood:
12	chr19:18717975..18720331-chr19:18725618..18727812,2	K562	blood:

Variant related genes	Relation type
TMEM59L	TF binding region
CRLF1	TF binding region
TMEM59L	CpG island
CRLF1	CpG island
ENSG00000105696	chromatin interactions
ENSG00000105655	chromatin interactions
ENSG00000006016	chromatin interactions
ENSG00000167487	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368969964	chr19:18716016-18716017	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs144109904	chr19:18716018-18716019	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs367999010	chr19:18716061-18716062	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs538520300	chr19:18716071-18716072	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs551124554	chr19:18716092-18716093	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs571197399	chr19:18716112-18716113	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs34847705	chr19:18716128-18716129	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs539315107	chr19:18716133-18716134	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs72995446	chr19:18716141-18716142	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111520914	chr19:18716153-18716154	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs146899185	chr19:18716154-18716155	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs536499032	chr19:18716182-18716183	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs181654904	chr19:18716195-18716196	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs2238650	chr19:18716206-18716207	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs555048776	chr19:18716212-18716213	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs372672051	chr19:18716255-18716256	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs545268826	chr19:18716298-18716299	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs73531616	chr19:18716356-18716357	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540382886	chr19:18716367-18716368	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs377072111	chr19:18716368-18716369	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs534616582	chr19:18716382-18716383	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs549203863	chr19:18716439-18716440	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs562725186	chr19:18716441-18716442	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs543816658	chr19:18716447-18716448	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs372280727	chr19:18716473-18716474	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs185028984	chr19:18716477-18716478	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs552022607	chr19:18716504-18716505	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs571170618	chr19:18716531-18716532	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs79286782	chr19:18716550-18716551	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs547516638	chr19:18716607-18716608	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs567410430	chr19:18716611-18716612	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs531529107	chr19:18716632-18716633	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs536338005	chr19:18716656-18716657	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs148305690	chr19:18716681-18716682	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs12462549	chr19:18716731-18716732	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs569804414	chr19:18716769-18716770	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs538575077	chr19:18716786-18716787	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs531035481	chr19:18716790-18716791	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs558777987	chr19:18716834-18716835	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs577962660	chr19:18716891-18716892	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs371043281	chr19:18716954-18716955	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs540670793	chr19:18717007-18717008	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs71332131	chr19:18717082-18717083	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573828447	chr19:18717108-18717109	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs550642883	chr19:18717130-18717131	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs562764342	chr19:18717214-18717215	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs113093604	chr19:18717264-18717265	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs188747632	chr19:18717295-18717296	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs565524847	chr19:18717320-18717321	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs34503316	chr19:18717390-18717391	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18706400-18716200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr19:18713000-18716200	Weak transcription	Pancreas	Pancrea
3	chr19:18713600-18716800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:18714000-18718200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:18714200-18716600	Bivalent Enhancer	Fetal Stomach	stomach
6	chr19:18714200-18717200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:18714400-18716200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr19:18714400-18716400	Weak transcription	A549	lung
9	chr19:18714400-18716600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
10	chr19:18714400-18716800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:18714400-18717600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr19:18714400-18718400	Active TSS	HSMMtube	muscle
13	chr19:18714400-18719000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:18714600-18716200	Active TSS	Right Atrium	heart
15	chr19:18714600-18716400	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr19:18714800-18716200	Flanking Active TSS	HepG2	liver
17	chr19:18714800-18716800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:18715000-18716000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:18715000-18716000	Active TSS	Right Ventricle	heart
20	chr19:18715000-18716400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:18715000-18716400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr19:18715000-18717000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr19:18715000-18718200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:18715200-18716200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:18715400-18716000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr19:18715400-18716200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:18715400-18717000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr19:18715400-18717400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:18715400-18717400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
30	chr19:18715400-18718200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr19:18715400-18719000	Active TSS	HSMM	muscle
32	chr19:18715600-18716400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr19:18715800-18717000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:18715800-18717200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr19:18716000-18716600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr19:18716000-18716600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:18716000-18716600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr19:18716000-18716600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
39	chr19:18716000-18716600	Bivalent/Poised TSS	Right Ventricle	heart
40	chr19:18716000-18717200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr19:18716000-18718800	Bivalent/Poised TSS	Osteobl	bone
42	chr19:18716200-18716400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:18716200-18716400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:18716200-18716400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:18716200-18716400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
46	chr19:18716200-18716400	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:18716200-18716400	Bivalent/Poised TSS	Fetal Lung	lung
48	chr19:18716200-18716400	Active TSS	Pancreas	Pancrea
49	chr19:18716200-18716400	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr19:18716200-18716600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--

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