Variant report

Variant	esv3425239
Chromosome Location	chr19:38885137-38887985
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	CHD2	chr19:38885330-38885616	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr19:38885021-38885618	H1-hESC	embryonic stem cell:	n/a	n/a
3	EGR1	chr19:38886355-38886524	GM12878	blood:	n/a	chr19:38886421-38886435
4	EGR1	chr19:38884969-38885524	H1-hESC	embryonic stem cell:	n/a	chr19:38885240-38885250 chr19:38885238-38885251 chr19:38885239-38885250 chr19:38885241-38885250 chr19:38885238-38885251 chr19:38885237-38885252 chr19:38885238-38885252 chr19:38885238-38885251 chr19:38885234-38885256 chr19:38885238-38885251 chr19:38885240-38885250
5	EGR1	chr19:38885077-38885383	K562	blood:	n/a	chr19:38885240-38885250 chr19:38885238-38885251 chr19:38885239-38885250 chr19:38885241-38885250 chr19:38885238-38885251 chr19:38885237-38885252 chr19:38885238-38885252 chr19:38885238-38885251 chr19:38885234-38885256 chr19:38885238-38885251 chr19:38885240-38885250
6	EGR1	chr19:38885084-38885350	K562	blood:	n/a	chr19:38885240-38885250 chr19:38885238-38885251 chr19:38885239-38885250 chr19:38885241-38885250 chr19:38885238-38885251 chr19:38885237-38885252 chr19:38885238-38885252 chr19:38885238-38885251 chr19:38885234-38885256 chr19:38885238-38885251 chr19:38885240-38885250
7	ELF1	chr19:38886170-38886704	GM12878	blood:	n/a	n/a
8	GTF2F1	chr19:38885170-38885205	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr19:38885043-38885449	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr19:38885041-38885621	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr19:38885192-38885399	HepG2	liver:	n/a	n/a
12	MAX	chr19:38885129-38885396	K562	blood:	n/a	n/a
13	MAX	chr19:38885138-38885482	HepG2	liver:	n/a	n/a
14	MAX	chr19:38885026-38885545	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr19:38885113-38885384	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr19:38885175-38885442	H1-hESC	embryonic stem cell:	n/a	n/a
17	MXI1	chr19:38885156-38885470	HepG2	liver:	n/a	n/a
18	MYC	chr19:38885247-38885336	HUVEC	blood vessel:	n/a	n/a
19	MYC	chr19:38885183-38885381	H1-hESC	embryonic stem cell:	n/a	n/a
20	NANOG	chr19:38885181-38885548	H1-hESC	embryonic stem cell:	n/a	n/a
21	PAX5	chr19:38886264-38886896	GM12892	blood:	n/a	n/a
22	POLR2A	chr19:38886370-38886803	GM12892	blood:	n/a	n/a
23	POLR2A	chr19:38887500-38888949	U87	brain:	n/a	n/a
24	POLR2A	chr19:38886288-38886842	GM12892	blood:	n/a	n/a
25	POLR2A	chr19:38887891-38888230	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr19:38886227-38886897	GM12892	blood:	n/a	n/a
27	POLR2A	chr19:38886387-38886713	GM12892	blood:	n/a	n/a
28	POLR2A	chr19:38885084-38885147	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr19:38885042-38885865	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr19:38887166-38887251	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr19:38887810-38888921	U87	brain:	n/a	n/a
32	POLR2A	chr19:38884992-38885648	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr19:38887810-38888860	U87	brain:	n/a	n/a
34	POLR2A	chr19:38887005-38894478	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr19:38887449-38887739	U87	brain:	n/a	n/a
36	POLR2A	chr19:38885180-38885403	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr19:38886295-38886788	GM15510	blood:	n/a	n/a
38	POLR2A	chr19:38886934-38887517	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr19:38885207-38885504	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr19:38886331-38886680	GM12892	blood:	n/a	n/a
41	POLR2A	chr19:38887402-38891489	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr19:38886848-38892855	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr19:38883299-38886167	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr19:38871440-38886227	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr19:38887544-38888856	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr19:38886771-38892156	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr19:38887776-38888967	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr19:38885152-38885590	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr19:38887898-38888310	K562	blood:	n/a	n/a
50	POLR2A	chr19:38887269-38890585	U87	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38885242-38885292	GM12892	blood:	n/a
2	chr19:38885481-38885531	MCF-7	breast:	n/a
3	chr19:38886554-38886604	ECC-1	luminal epithelium:	n/a
4	chr19:38886554-38886604	GM12878	blood:	n/a
5	chr19:38886554-38886604	MCF10A-Er-Src	breast:	n/a
6	chr19:38886110-38886160	AoSMC	blood vessel:	n/a
7	chr19:38886319-38886369	HNPCEpiC	eye:	n/a
8	chr19:38886667-38886717	SK-N-SH_RA	brain:	n/a
9	chr19:38886658-38886708	NHDF-neo	bronchial:	n/a
10	chr19:38886789-38886839	HEK293	kidney:	embryo
11	chr19:38887799-38887849	NT2-D1	testis:	n/a
12	chr19:38887799-38887849	MCF-7	breast:	n/a
13	chr19:38886789-38886839	HRPEpiC	eye:	n/a
14	chr19:38886658-38886708	A549	lung:	n/a
15	chr19:38886667-38886717	SKMC	muscle:	n/a
16	chr19:38886658-38886708	NT2-D1	testis:	n/a
17	chr19:38886667-38886717	ovcar-3	ovarian:	n/a
18	chr19:38886658-38886708	HMEC	breast:	n/a
19	chr19:38886789-38886839	GM12878	blood:	n/a
20	chr19:38886658-38886708	Hepatocyte	liver:	n/a
21	chr19:38886319-38886369	GM12892	blood:	n/a
22	chr19:38886658-38886708	MCF-7	breast:	n/a
23	chr19:38885242-38885292	SK-N-SH	brain:	n/a
24	chr19:38886110-38886160	RPTEC	kidney:	n/a
25	chr19:38885481-38885531	SK-N-SH_RA	brain:	n/a
26	chr19:38886554-38886604	H1-hESC	embryonic stem cell:	embryo
27	chr19:38886110-38886160	HRCEpiC	kidney:	n/a
28	chr19:38887799-38887849	GM19239	blood:	n/a
29	chr19:38885242-38885292	HIPEpiC	eye:	n/a
30	chr19:38886319-38886369	NT2-D1	testis:	n/a
31	chr19:38886789-38886839	ProgFib	skin:	n/a
32	chr19:38886110-38886160	H1-hESC	embryonic stem cell:	embryo
33	chr19:38886554-38886604	HEEpiC	esophagus:	n/a
34	chr19:38886554-38886604	NHDF-neo	bronchial:	n/a
35	chr19:38886658-38886708	GM06990	blood:	n/a
36	chr19:38886110-38886160	HAEpiC	amniotic membrane:	n/a
37	chr19:38885242-38885292	GM19239	blood:	n/a
38	chr19:38886554-38886604	AoSMC	blood vessel:	n/a
39	chr19:38886554-38886604	HRE	kidney:	n/a
40	chr19:38887799-38887849	HCPEpiC	choroid plexus:	n/a
41	chr19:38886667-38886717	GM12892	blood:	n/a
42	chr19:38885481-38885531	HPAEpiC	pulmonary alveolar:	n/a
43	chr19:38886110-38886160	BJ	skin:	n/a
44	chr19:38887799-38887849	HUVEC	blood vessel:	n/a
45	chr19:38886110-38886160	SK-N-MC	brain:	n/a
46	chr19:38886319-38886369	Jurkat	blood:	n/a
47	chr19:38885242-38885292	HepG2	liver:	n/a
48	chr19:38886658-38886708	AG04449	skin:	fetal
49	chr19:38886319-38886369	SAEC	small airway:	n/a
50	chr19:38886554-38886604	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38877412..38880246-chr19:38884643..38887201,2	K562	blood:
2	chr19:38886501..38890187-chr19:38891290..38894154,6	MCF-7	breast:
3	chr19:38865210..38867100-chr19:38887808..38889837,2	MCF-7	breast:
4	chr19:38864094..38865598-chr19:38884345..38886575,2	K562	blood:
5	chr19:38724585..38727174-chr19:38883492..38886224,2	K562	blood:
6	chr19:38865462..38867810-chr19:38887445..38890114,2	K562	blood:
7	chr19:38881527..38884112-chr19:38884478..38886116,2	K562	blood:

Variant related genes	Relation type
ENSG00000267473	TF binding region
ENSG00000267473	CpG island
ENSG00000130244	chromatin interactions
ENSG00000099341	chromatin interactions
ENSG00000188766	chromatin interactions
ENSG00000179168	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112629868	chr19:38885147-38885148	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs574549163	chr19:38885162-38885163	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs535402377	chr19:38885179-38885180	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs557203068	chr19:38885224-38885225	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs369438269	chr19:38885235-38885236	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs147790536	chr19:38885236-38885237	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs564208682	chr19:38885299-38885300	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs572982361	chr19:38885301-38885302	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs540275398	chr19:38885302-38885303	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs562165382	chr19:38885307-38885308	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs376943967	chr19:38885325-38885326	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs529475163	chr19:38885354-38885355	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs369978626	chr19:38885365-38885366	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs544606956	chr19:38885378-38885379	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs562841199	chr19:38885387-38885388	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs533195313	chr19:38885390-38885391	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs142553701	chr19:38885397-38885398	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs566483883	chr19:38885401-38885402	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs371958046	chr19:38885402-38885403	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs112201791	chr19:38885412-38885413	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs7256696	chr19:38885416-38885417	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs568193813	chr19:38885419-38885420	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs35883617	chr19:38885443-38885444	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs35522603	chr19:38885484-38885485	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs564571880	chr19:38885504-38885505	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs73044915	chr19:38885516-38885517	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs557019123	chr19:38885575-38885576	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs569161910	chr19:38885583-38885584	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs543777552	chr19:38885634-38885635	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs148388902	chr19:38885635-38885636	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs557789493	chr19:38885643-38885644	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs572848258	chr19:38885680-38885681	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs78812069	chr19:38885697-38885698	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs189683092	chr19:38885711-38885712	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs574199790	chr19:38885730-38885731	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs544783826	chr19:38885784-38885785	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs373808247	chr19:38885791-38885792	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs562703033	chr19:38885969-38885970	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs73044917	chr19:38886034-38886035	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191630284	chr19:38886037-38886038	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs560133485	chr19:38886050-38886051	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs73044919	chr19:38886051-38886052	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs549235257	chr19:38886054-38886055	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs138192830	chr19:38886069-38886070	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs375461742	chr19:38886130-38886131	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs377606661	chr19:38886145-38886146	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs375845556	chr19:38886146-38886147	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs201498157	chr19:38886158-38886159	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs370718974	chr19:38886187-38886188	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs550803107	chr19:38886206-38886207	Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Pancreatic cancer	17952125	CNVD
Acute myeloid leukemia	20729466	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38880000-38885200	Weak transcription	Pancreas	Pancrea
2	chr19:38880000-38886400	Weak transcription	Gastric	stomach
3	chr19:38880200-38885200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:38880200-38885400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:38880200-38887600	Weak transcription	Right Atrium	heart
6	chr19:38880800-38889200	Weak transcription	Brain Angular Gyrus	brain
7	chr19:38881000-38885200	Weak transcription	NHEK	skin
8	chr19:38881000-38887000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:38881000-38887600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:38881000-38893200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr19:38881000-38893200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:38881000-38893200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:38881000-38893200	Weak transcription	HSMMtube	muscle
14	chr19:38881200-38887200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:38881600-38886200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:38882400-38885200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:38882600-38888000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:38882800-38887400	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:38883000-38885400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:38883000-38885400	Enhancers	Fetal Intestine Small	intestine
21	chr19:38883000-38888000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:38883200-38885400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:38883200-38887800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:38883600-38885400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr19:38883600-38885600	Enhancers	Duodenum Mucosa	Duodenum
26	chr19:38883600-38891600	Weak transcription	HUVEC	blood vessel
27	chr19:38883600-38893400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:38883800-38885200	Weak transcription	NHDF-Ad	bronchial
29	chr19:38883800-38885400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr19:38883800-38886800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:38883800-38887200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:38883800-38887600	Strong transcription	NHLF	lung
33	chr19:38883800-38887800	Strong transcription	Osteobl	bone
34	chr19:38883800-38888400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:38884000-38885400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr19:38884000-38885800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr19:38884000-38886400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:38884000-38891600	Weak transcription	A549	lung
39	chr19:38884400-38885200	Strong transcription	HSMM	muscle
40	chr19:38884600-38885200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr19:38884600-38885200	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr19:38884600-38885400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr19:38884600-38885400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:38884600-38885400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr19:38884600-38886200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:38884600-38887200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:38884800-38885200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr19:38884800-38885400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr19:38884800-38885400	Bivalent Enhancer	Placenta	Placenta
50	chr19:38884800-38886200	Enhancers	Esophagus	oesophagus

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