Variant report

Variant	nsv828563
Chromosome Location	chr19:45594591-45598168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1090)
CpG islands
(count:488)
Chromatin interactive
region (count:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1090 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:45596008-45596336	HepG2	liver:	n/a	n/a
2	ATF1	chr19:45594722-45595142	K562	blood:	n/a	n/a
3	ATF2	chr19:45595834-45596471	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr19:45595919-45596387	GM12878	blood:	n/a	n/a
5	ATF2	chr19:45595872-45596469	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr19:45594226-45595423	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr19:45594659-45595398	GM12878	blood:	n/a	n/a
8	ATF2	chr19:45594467-45595320	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr19:45594690-45595375	GM12878	blood:	n/a	n/a
10	ATF2	chr19:45595895-45596527	GM12878	blood:	n/a	n/a
11	ATF3	chr19:45595798-45596616	A549	lung:	n/a	n/a
12	ATF3	chr19:45594403-45595528	A549	lung:	n/a	n/a
13	ATF3	chr19:45594530-45595398	A549	lung:	n/a	n/a
14	ATF3	chr19:45595885-45596534	A549	lung:	n/a	n/a
15	BCL3	chr19:45595717-45596638	A549	lung:	n/a	chr19:45596476-45596489 chr19:45596051-45596060 chr19:45596484-45596493 chr19:45596481-45596490 chr19:45596572-45596581
16	BCL3	chr19:45594035-45595581	A549	lung:	n/a	chr19:45594907-45594916
17	BCL3	chr19:45594831-45595261	GM12878	blood:	n/a	chr19:45594907-45594916
18	BCL3	chr19:45595735-45596572	A549	lung:	n/a	chr19:45596476-45596489 chr19:45596051-45596060 chr19:45596484-45596493 chr19:45596481-45596490
19	BCL3	chr19:45594716-45595251	GM12878	blood:	n/a	chr19:45594907-45594916
20	BCL3	chr19:45594094-45595510	A549	lung:	n/a	chr19:45594907-45594916
21	BCLAF1	chr19:45595794-45596615	GM12878	blood:	n/a	chr19:45596476-45596489 chr19:45596051-45596060 chr19:45596484-45596493 chr19:45596481-45596490 chr19:45596572-45596581
22	BCLAF1	chr19:45594593-45595426	GM12878	blood:	n/a	chr19:45594907-45594916
23	BCLAF1	chr19:45594691-45595274	GM12878	blood:	n/a	chr19:45594907-45594916
24	BHLHE40	chr19:45594861-45595145	K562	blood:	n/a	n/a
25	BHLHE40	chr19:45595928-45596612	HepG2	liver:	n/a	n/a
26	BHLHE40	chr19:45594289-45594592	K562	blood:	n/a	n/a
27	BHLHE40	chr19:45594795-45595272	GM12878	blood:	n/a	n/a
28	BHLHE40	chr19:45595884-45596844	K562	blood:	n/a	n/a
29	BHLHE40	chr19:45595886-45596639	GM12878	blood:	n/a	n/a
30	BRCA1	chr19:45596143-45596373	GM12878	blood:	n/a	n/a
31	BRCA1	chr19:45594809-45595238	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr19:45595902-45596405	K562	blood:	n/a	n/a
33	CBX3	chr19:45594372-45595190	K562	blood:	n/a	n/a
34	CBX3	chr19:45595811-45596562	K562	blood:	n/a	n/a
35	CCNT2	chr19:45594780-45595105	K562	blood:	n/a	n/a
36	CCNT2	chr19:45596032-45596901	K562	blood:	n/a	chr19:45596188-45596197
37	CEBPB	chr19:45596199-45596367	K562	blood:	n/a	n/a
38	CEBPB	chr19:45594928-45594978	K562	blood:	n/a	n/a
39	CEBPB	chr19:45594761-45595483	GM12878	blood:	n/a	n/a
40	CEBPB	chr19:45594825-45595300	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr19:45595961-45596469	K562	blood:	n/a	n/a
42	CEBPB	chr19:45595889-45596574	GM12878	blood:	n/a	n/a
43	CHD1	chr19:45595788-45596777	GM12878	blood:	n/a	chr19:45596186-45596196
44	CHD2	chr19:45596008-45596575	GM12878	blood:	n/a	chr19:45596186-45596196
45	CHD2	chr19:45595956-45596422	Hela-S3	cervix:	n/a	chr19:45596186-45596196
46	CHD2	chr19:45594726-45595172	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr19:45594964-45595118	K562	blood:	n/a	n/a
48	CHD2	chr19:45596042-45596463	K562	blood:	n/a	chr19:45596186-45596196
49	CHD2	chr19:45596624-45596713	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr19:45596094-45596340	HepG2	liver:	n/a	chr19:45596186-45596196

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45596386-45596436	HCF	heart:	n/a
2	chr19:45596386-45596436	PANC-1	pancreas:	n/a
3	chr19:45596159-45596209	HUVEC	blood vessel:	n/a
4	chr19:45596745-45596795	HIPEpiC	eye:	n/a
5	chr19:45596828-45596878	NT2-D1	testis:	n/a
6	chr19:45595006-45595056	GM12891	blood:	n/a
7	chr19:45596087-45596137	GM12878	blood:	n/a
8	chr19:45596368-45596418	NHDF-neo	bronchial:	n/a
9	chr19:45596087-45596137	ECC-1	luminal epithelium:	n/a
10	chr19:45596159-45596209	NHDF-neo	bronchial:	n/a
11	chr19:45596386-45596436	HRE	kidney:	n/a
12	chr19:45596745-45596795	HepG2	liver:	n/a
13	chr19:45595006-45595056	HPAEpiC	pulmonary alveolar:	n/a
14	chr19:45596745-45596795	T-47D	breast:	n/a
15	chr19:45596386-45596436	RPTEC	kidney:	n/a
16	chr19:45596368-45596418	ECC-1	luminal epithelium:	n/a
17	chr19:45596745-45596795	GM12878	blood:	n/a
18	chr19:45596087-45596137	GM19239	blood:	n/a
19	chr19:45594670-45594720	AG04450	lung:	fetal
20	chr19:45596159-45596209	Hepatocyte	liver:	n/a
21	chr19:45594670-45594720	SK-N-SH_RA	brain:	n/a
22	chr19:45596159-45596209	AG10803	skin:	n/a
23	chr19:45596828-45596878	HL-60	blood:	n/a
24	chr19:45596087-45596137	RPTEC	kidney:	n/a
25	chr19:45596087-45596137	PFSK-1	brain:	n/a
26	chr19:45596386-45596436	HCM	heart:	n/a
27	chr19:45594670-45594720	HCPEpiC	choroid plexus:	n/a
28	chr19:45596159-45596209	AG04449	skin:	fetal
29	chr19:45596745-45596795	NB4	blood:	n/a
30	chr19:45594670-45594720	PANC-1	pancreas:	n/a
31	chr19:45594670-45594720	U87	brain:	n/a
32	chr19:45596087-45596137	SKMC	muscle:	n/a
33	chr19:45594670-45594720	HCT-116	colon:	n/a
34	chr19:45596159-45596209	ECC-1	luminal epithelium:	n/a
35	chr19:45596828-45596878	Hela-S3	cervix:	n/a
36	chr19:45596087-45596137	Hela-S3	cervix:	n/a
37	chr19:45595006-45595056	HRCEpiC	kidney:	n/a
38	chr19:45596087-45596137	GM12891	blood:	n/a
39	chr19:45596745-45596795	GM12891	blood:	n/a
40	chr19:45596159-45596209	HRE	kidney:	n/a
41	chr19:45596368-45596418	PANC-1	pancreas:	n/a
42	chr19:45596159-45596209	NB4	blood:	n/a
43	chr19:45596828-45596878	HIPEpiC	eye:	n/a
44	chr19:45594670-45594720	HPAEpiC	pulmonary alveolar:	n/a
45	chr19:45596087-45596137	NHDF-neo	bronchial:	n/a
46	chr19:45596087-45596137	NHBE	bronchial:	n/a
47	chr19:45596828-45596878	HEEpiC	esophagus:	n/a
48	chr19:45596745-45596795	HEEpiC	esophagus:	n/a
49	chr19:45596745-45596795	Caco-2	colon:	n/a
50	chr19:45596159-45596209	SKMC	muscle:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45593518..45596472-chr19:45847951..45849641,2	MCF-7	breast:
2	chr19:45594892..45596535-chr19:45681783..45683354,2	MCF-7	breast:
3	chr19:45594755..45598539-chr19:45681810..45685400,4	K562	blood:
4	chr19:45503630..45506563-chr19:45593514..45596516,3	MCF-7	breast:
5	chr19:45595033..45597870-chr19:45646652..45650476,4	MCF-7	breast:
6	chr19:45542175..45544773-chr19:45593754..45596386,2	MCF-7	breast:
7	chr1:201951628..201952557-chr19:45594631..45595384,2	Hela-S3	cervix:
8	chr19:45594586..45596499-chr19:45682181..45685187,4	MCF-7	breast:
9	chr19:45416225..45418303-chr19:45596248..45598636,2	K562	blood:
10	chr19:45571923..45576077-chr19:45594481..45600071,10	MCF-7	breast:
11	chr19:45576493..45586900-chr19:45588536..45604492,49	MCF-7	breast:
12	chr19:45580763..45587822-chr19:45593153..45598212,14	K562	blood:
13	chr19:45570935..45574142-chr19:45593620..45597765,5	MCF-7	breast:
14	chr19:45594891..45596500-chr19:45754008..45755786,2	MCF-7	breast:
15	chr19:45250268..45252334-chr19:45593239..45597540,3	MCF-7	breast:
16	chr19:45577259..45585589-chr19:45592358..45603656,27	K562	blood:
17	chr19:45576986..45585099-chr19:45592126..45598719,16	MCF-7	breast:
18	chr19:45503629..45506931-chr19:45593767..45597738,4	K562	blood:
19	chr19:45394111..45396115-chr19:45593226..45596136,2	MCF-7	breast:
20	chr19:45594874..45597676-chr19:45681810..45683655,2	K562	blood:
21	chr19:45542295..45544069-chr19:45594724..45597616,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R37-1	chr19:45595050-45595415	NONHSAT066758
2	lnc-PPP1R37-1	chr19:45596342-45596529	NONHSAT066758

No data

Variant related genes	Relation type
ENSG00000267348	TF binding region
PPP1R37	TF binding region
ENSG00000267348	CpG island
PPP1R37	CpG island
ENSG00000104859	chromatin interactions
ENSG00000189114	chromatin interactions
ENSG00000170684	chromatin interactions
ENSG00000069399	chromatin interactions
ENSG00000104892	chromatin interactions
ENSG00000176393	chromatin interactions
ENSG00000130208	chromatin interactions
ENSG00000267282	chromatin interactions
ENSG00000142252	chromatin interactions
ENSG00000130204	chromatin interactions
ENSG00000007047	chromatin interactions
ENSG00000267545	chromatin interactions
ENSG00000104856	chromatin interactions
ENSG00000104866	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112415624	chr19:45594594-45594595	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs3745157	chr19:45594595-45594596	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs564418923	chr19:45594644-45594645	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs138021497	chr19:45594651-45594652	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs16979659	chr19:45594658-45594659	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576351633	chr19:45594671-45594672	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs542053612	chr19:45594685-45594686	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs187148755	chr19:45594780-45594781	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs369928145	chr19:45594803-45594804	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs372622287	chr19:45594817-45594818	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs10415633	chr19:45594819-45594820	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559886208	chr19:45594821-45594822	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs77660932	chr19:45594842-45594843	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	mRNA abundance
14	rs530865577	chr19:45594876-45594877	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs553963257	chr19:45594922-45594923	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs573776875	chr19:45594944-45594945	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs550669413	chr19:45594949-45594950	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs192131467	chr19:45594958-45594959	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs542774809	chr19:45594962-45594963	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs113708952	chr19:45595003-45595004	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	mRNA abundance
21	rs576201149	chr19:45595007-45595008	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs528935380	chr19:45595073-45595074	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
23	rs545062308	chr19:45595129-45595130	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
24	rs564856939	chr19:45595140-45595141	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
25	rs7254312	chr19:45595199-45595200	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541380870	chr19:45595217-45595218	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
27	rs561591023	chr19:45595232-45595233	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
28	rs143580804	chr19:45595255-45595256	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
29	rs550300244	chr19:45595269-45595270	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
30	rs10417101	chr19:45595277-45595278	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs532463878	chr19:45595316-45595317	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
32	rs528516273	chr19:45595349-45595350	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
33	rs183264261	chr19:45595373-45595374	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
34	rs540522142	chr19:45595387-45595388	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
35	rs565717294	chr19:45595390-45595391	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
36	rs534671922	chr19:45595403-45595404	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
37	rs553799548	chr19:45595411-45595412	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
38	rs567511799	chr19:45595419-45595420	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs186569829	chr19:45595421-45595422	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs536061536	chr19:45595431-45595432	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs551628441	chr19:45595449-45595450	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs376994135	chr19:45595453-45595454	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs74751030	chr19:45595460-45595461	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs556313114	chr19:45595461-45595462	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs576239277	chr19:45595464-45595465	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs201154398	chr19:45595471-45595472	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs66537927	chr19:45595472-45595473	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs398034768	chr19:45595473-45595474	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs150567587	chr19:45595532-45595533	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs572084408	chr19:45595547-45595548	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Adrenocortical carcinoma	18281524	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Muscular dystrophy	17160897	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45583600-45594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:45583600-45595200	Weak transcription	Small Intestine	intestine
3	chr19:45585800-45594600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:45587800-45594800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:45590600-45594800	Strong transcription	Dnd41	blood
6	chr19:45592200-45594600	Weak transcription	Primary T cells from cord blood	blood
7	chr19:45593200-45595000	ZNF genes & repeats	GM12878-XiMat	blood
8	chr19:45593200-45595400	Strong transcription	HepG2	liver
9	chr19:45593400-45594600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:45593400-45594600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:45593400-45594600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
12	chr19:45593600-45594600	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr19:45593800-45594600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:45593800-45594600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr19:45593800-45594600	Enhancers	Lung	lung
16	chr19:45593800-45594800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:45594000-45594600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr19:45594000-45594600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr19:45594000-45594600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:45594000-45594600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:45594000-45594600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr19:45594000-45594600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr19:45594000-45594800	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr19:45594000-45594800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr19:45594000-45594800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr19:45594000-45594800	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr19:45594000-45595000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:45594000-45598200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr19:45594200-45594600	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
30	chr19:45594200-45594600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:45594200-45594600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:45594200-45594600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr19:45594200-45594600	Enhancers	Primary B cells from cord blood	blood
34	chr19:45594200-45594600	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr19:45594200-45594600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:45594200-45594600	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr19:45594200-45594600	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr19:45594200-45594600	Flanking Active TSS	Esophagus	oesophagus
39	chr19:45594200-45594600	Flanking Active TSS	Fetal Brain Female	brain
40	chr19:45594200-45594600	Flanking Active TSS	Fetal Heart	heart
41	chr19:45594200-45594600	Flanking Active TSS	Fetal Lung	lung
42	chr19:45594200-45594600	Flanking Active TSS	Pancreas	Pancrea
43	chr19:45594200-45594600	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr19:45594200-45594600	Flanking Active TSS	HMEC	breast
45	chr19:45594200-45594600	Flanking Active TSS	NHDF-Ad	bronchial
46	chr19:45594200-45594600	Transcr. at gene 5' and 3'	NHEK	skin
47	chr19:45594200-45594800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
48	chr19:45594200-45594800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:45594200-45594800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:45594200-45594800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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