Variant report

Variant	esv3429815
Chromosome Location	chr19:18543377-18545925
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	ATF2	chr19:18544905-18545251	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr19:18543709-18544259	GM12878	blood:	n/a	n/a
3	BACH1	chr19:18544044-18544213	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr19:18543901-18543906	K562	blood:	n/a	n/a
5	BCL3	chr19:18544799-18545228	K562	blood:	n/a	n/a
6	BCL3	chr19:18545624-18545919	K562	blood:	n/a	n/a
7	BCL3	chr19:18543538-18544439	GM12878	blood:	n/a	chr19:18543740-18543749 chr19:18543741-18543750 chr19:18544283-18544292 chr19:18544281-18544294 chr19:18544100-18544113
8	BCL3	chr19:18544467-18546028	K562	blood:	n/a	chr19:18544746-18544759 chr19:18544747-18544760
9	BCL3	chr19:18544513-18544852	GM12878	blood:	n/a	chr19:18544746-18544759 chr19:18544747-18544760
10	BCL3	chr19:18543616-18544387	K562	blood:	n/a	chr19:18543740-18543749 chr19:18543741-18543750 chr19:18544283-18544292 chr19:18544281-18544294 chr19:18544100-18544113
11	BCLAF1	chr19:18543880-18544417	K562	blood:	n/a	chr19:18544283-18544292 chr19:18544281-18544294 chr19:18544100-18544113
12	BCLAF1	chr19:18543571-18544241	GM12878	blood:	n/a	chr19:18543740-18543749 chr19:18543741-18543750 chr19:18544100-18544113
13	BCLAF1	chr19:18543587-18544362	GM12878	blood:	n/a	chr19:18543740-18543749 chr19:18543741-18543750 chr19:18544283-18544292 chr19:18544281-18544294 chr19:18544100-18544113
14	BHLHE40	chr19:18543847-18544297	GM12878	blood:	n/a	chr19:18544163-18544179
15	BHLHE40	chr19:18543877-18544227	K562	blood:	n/a	chr19:18544163-18544179
16	CBX3	chr19:18543782-18544302	K562	blood:	n/a	n/a
17	CCNT2	chr19:18545423-18545580	K562	blood:	n/a	n/a
18	CCNT2	chr19:18543992-18545058	K562	blood:	n/a	chr19:18544476-18544485 chr19:18544220-18544229 chr19:18544905-18544914 chr19:18544883-18544892 chr19:18544786-18544795
19	CEBPB	chr19:18543929-18544161	GM12878	blood:	n/a	n/a
20	CEBPB	chr19:18543562-18544197	GM12878	blood:	n/a	n/a
21	CHD1	chr19:18544003-18544022	GM12878	blood:	n/a	n/a
22	CHD1	chr19:18544984-18545016	GM12878	blood:	n/a	n/a
23	CHD2	chr19:18543732-18544406	GM12878	blood:	n/a	chr19:18544220-18544230 chr19:18544038-18544048
24	CHD2	chr19:18545549-18545593	K562	blood:	n/a	n/a
25	CHD2	chr19:18543582-18545221	K562	blood:	n/a	chr19:18544477-18544487 chr19:18544220-18544230 chr19:18544038-18544048 chr19:18544482-18544492
26	CHD2	chr19:18544090-18544289	H1-hESC	embryonic stem cell:	n/a	chr19:18544220-18544230
27	CTCF	chr19:18544074-18544172	GM10248	blood:	n/a	chr19:18544140-18544153
28	CTCF	chr19:18543980-18544130	GM12871	blood:	n/a	n/a
29	CTCF	chr19:18544080-18544230	HCM	heart:	n/a	chr19:18544140-18544153
30	CTCF	chr19:18544321-18544371	GM19239	blood:	n/a	chr19:18544327-18544336
31	CTCF	chr19:18543980-18544130	HEK293	kidney:	n/a	n/a
32	CTCF	chr19:18544022-18544203	GM12878	blood:	n/a	chr19:18544140-18544153
33	CTCF	chr19:18544100-18544250	GM12865	blood:	n/a	chr19:18544140-18544153
34	CTCF	chr19:18544020-18544163	GM19240	blood:	n/a	chr19:18544140-18544153
35	CTCF	chr19:18544164-18544165	GM19240	blood:	n/a	n/a
36	CTCF	chr19:18544000-18544150	GM12869	blood:	n/a	n/a
37	CTCF	chr19:18544000-18544150	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr19:18543947-18544236	GM12892	blood:	n/a	chr19:18544140-18544153
39	CTCF	chr19:18544020-18544170	HCPEpiC	choroid plexus:	n/a	chr19:18544140-18544153
40	CTCF	chr19:18544025-18544035	Lung_OC	lung:	n/a	n/a
41	CTCF	chr19:18544040-18544190	GM12874	blood:	n/a	chr19:18544140-18544153
42	CTCF	chr19:18543940-18544090	GM12871	blood:	n/a	n/a
43	CTCF	chr19:18544040-18544190	HRE	kidney:	n/a	chr19:18544140-18544153
44	CTCF	chr19:18544000-18544150	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr19:18543980-18544194	GM19239	blood:	n/a	chr19:18544140-18544153
46	CTCF	chr19:18544000-18544150	GM12875	blood:	n/a	n/a
47	CTCF	chr19:18543962-18544229	Spleen_OC	spleen:	n/a	chr19:18544140-18544153
48	CTCF	chr19:18544020-18544170	BE2_C	brain:	n/a	chr19:18544140-18544153
49	CTCF	chr19:18543992-18544167	GM19238	blood:	n/a	chr19:18544140-18544153
50	CTCF	chr19:18545593-18545835	T-47D	breast:	n/a	chr19:18545612-18545621

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18544419-18544469	CMK	blood:	n/a
2	chr19:18544419-18544469	NHBE	bronchial:	n/a
3	chr19:18545568-18545618	HUVEC	blood vessel:	n/a
4	chr19:18544419-18544469	ProgFib	skin:	n/a
5	chr19:18544419-18544469	HIPEpiC	eye:	n/a
6	chr19:18545441-18545491	HPAEpiC	pulmonary alveolar:	n/a
7	chr19:18544350-18544400	Jurkat	blood:	n/a
8	chr19:18545062-18545112	PFSK-1	brain:	n/a
9	chr19:18545062-18545112	ECC-1	luminal epithelium:	n/a
10	chr19:18545441-18545491	HNPCEpiC	eye:	n/a
11	chr19:18545062-18545112	AG09309	skin:	n/a
12	chr19:18543829-18543879	HCF	heart:	n/a
13	chr19:18545441-18545491	PrEC	prostate:	n/a
14	chr19:18545441-18545491	BE2_C	brain:	n/a
15	chr19:18545062-18545112	T-47D	breast:	n/a
16	chr19:18544350-18544400	LNCaP	prostate:	n/a
17	chr19:18544350-18544400	T-47D	breast:	n/a
18	chr19:18543829-18543879	HEK293	kidney:	embryo
19	chr19:18545568-18545618	GM12878	blood:	n/a
20	chr19:18544419-18544469	GM06990	blood:	n/a
21	chr19:18544419-18544469	LNCaP	prostate:	n/a
22	chr19:18544419-18544469	T-47D	breast:	n/a
23	chr19:18544419-18544469	PFSK-1	brain:	n/a
24	chr19:18544350-18544400	HRE	kidney:	n/a
25	chr19:18545441-18545491	HCF	heart:	n/a
26	chr19:18545062-18545112	AG04450	lung:	fetal
27	chr19:18545062-18545112	HRPEpiC	eye:	n/a
28	chr19:18543829-18543879	U87	brain:	n/a
29	chr19:18545441-18545491	NHBE	bronchial:	n/a
30	chr19:18545441-18545491	Caco-2	colon:	n/a
31	chr19:18543829-18543879	Jurkat	blood:	n/a
32	chr19:18544350-18544400	GM12891	blood:	n/a
33	chr19:18543829-18543879	PFSK-1	brain:	n/a
34	chr19:18543829-18543879	K562	blood:	n/a
35	chr19:18545062-18545112	Caco-2	colon:	n/a
36	chr19:18543829-18543879	HepG2	liver:	n/a
37	chr19:18543829-18543879	NH-A	brain:	n/a
38	chr19:18545568-18545618	GM19239	blood:	n/a
39	chr19:18544350-18544400	AG09319	gingival:	n/a
40	chr19:18544350-18544400	SK-N-SH_RA	brain:	n/a
41	chr19:18545441-18545491	HEK293	kidney:	embryo
42	chr19:18544350-18544400	SKMC	muscle:	n/a
43	chr19:18545568-18545618	NT2-D1	testis:	n/a
44	chr19:18545062-18545112	HRE	kidney:	n/a
45	chr19:18545568-18545618	PrEC	prostate:	n/a
46	chr19:18543829-18543879	HNPCEpiC	eye:	n/a
47	chr19:18544350-18544400	GM12878	blood:	n/a
48	chr19:18544350-18544400	Hepatocyte	liver:	n/a
49	chr19:18544350-18544400	BJ	skin:	n/a
50	chr19:18543829-18543879	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18484864..18486946-chr19:18543605..18545790,2	K562	blood:
2	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
3	chr19:18384108..18395354-chr19:18534355..18544725,18	K562	blood:
4	chr19:18392120..18393655-chr19:18544047..18545817,2	K562	blood:
5	chr19:18507454..18509649-chr19:18542288..18544063,2	K562	blood:
6	chr18:12067124..12068647-chr19:18543710..18545740,2	K562	blood:
7	chr18:12067124..12068644-chr19:18543710..18545856,2	K562	blood:
8	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
9	chr19:18385251..18388025-chr19:18541664..18544540,2	K562	blood:
10	chr19:18269587..18272195-chr19:18544788..18547771,3	K562	blood:

Variant related genes	Relation type
SSBP4	TF binding region
SSBP4	CpG island
ENSG00000267533	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000264175	chromatin interactions
ENSG00000130511	chromatin interactions
ENSG00000130518	chromatin interactions
ENSG00000105647	chromatin interactions
ENSG00000267959	chromatin interactions
ENSG00000175489	chromatin interactions
ENSG00000130513	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190507759	chr19:18543380-18543381	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs199614300	chr19:18543389-18543390	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs368585392	chr19:18543390-18543391	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs372909973	chr19:18543423-18543424	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs74976577	chr19:18543431-18543432	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs201434687	chr19:18543444-18543445	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs544843525	chr19:18543474-18543475	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs564819086	chr19:18543487-18543488	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs375537049	chr19:18543494-18543495	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs572033494	chr19:18543505-18543506	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs540946779	chr19:18543512-18543513	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs560250784	chr19:18543513-18543514	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs369625906	chr19:18543534-18543535	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs372025675	chr19:18543551-18543552	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs376754553	chr19:18543564-18543565	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs549163558	chr19:18543594-18543595	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs369276343	chr19:18543596-18543597	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs201515065	chr19:18543612-18543613	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs200954831	chr19:18543614-18543615	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs199686699	chr19:18543629-18543630	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs112312949	chr19:18543694-18543695	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs540522906	chr19:18543717-18543718	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs374102712	chr19:18543719-18543720	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs376974371	chr19:18543721-18543722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs371012452	chr19:18543726-18543727	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs373198944	chr19:18543727-18543728	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs375900891	chr19:18543738-18543739	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs112207016	chr19:18543759-18543760	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs372800902	chr19:18543765-18543766	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs200441752	chr19:18543774-18543775	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs145213164	chr19:18543787-18543788	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs199654239	chr19:18543797-18543798	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs534469079	chr19:18543827-18543828	Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs199983463	chr19:18543831-18543832	Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs138143670	chr19:18543841-18543842	Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs367852021	chr19:18543860-18543861	Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs370216443	chr19:18543883-18543884	Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs375407565	chr19:18543889-18543890	Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs368719935	chr19:18543906-18543907	Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs375209199	chr19:18543920-18543921	Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs566982944	chr19:18543931-18543932	Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs555976188	chr19:18543940-18543941	Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs576121228	chr19:18544035-18544036	Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs369123146	chr19:18544037-18544038	Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs572880050	chr19:18544061-18544062	Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs372871689	chr19:18544072-18544073	Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs538422723	chr19:18544096-18544097	Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs564840164	chr19:18544103-18544104	Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs529395075	chr19:18544123-18544124	Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs12973930	chr19:18544134-18544135	Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18532800-18547600	Weak transcription	HepG2	liver
2	chr19:18537400-18543800	Weak transcription	NHEK	skin
3	chr19:18537400-18544000	Weak transcription	HMEC	breast
4	chr19:18538000-18547600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:18538000-18548400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:18539200-18544000	Enhancers	Fetal Heart	heart
7	chr19:18540200-18543600	Weak transcription	Brain Angular Gyrus	brain
8	chr19:18540600-18543400	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr19:18540600-18543600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr19:18540600-18543600	Weak transcription	Esophagus	oesophagus
11	chr19:18540600-18543600	Weak transcription	Left Ventricle	heart
12	chr19:18540600-18543800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:18540600-18543800	Genic enhancers	Fetal Muscle Leg	muscle
14	chr19:18540600-18543800	Genic enhancers	Fetal Stomach	stomach
15	chr19:18540800-18543400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr19:18540800-18543600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr19:18540800-18543600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:18540800-18543600	Weak transcription	Adipose Nuclei	Adipose
19	chr19:18540800-18543600	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:18540800-18543800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:18540800-18543800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:18540800-18543800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:18540800-18543800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:18540800-18543800	Weak transcription	Osteobl	bone
25	chr19:18540800-18544000	Weak transcription	Gastric	stomach
26	chr19:18540800-18544000	Weak transcription	Small Intestine	intestine
27	chr19:18540800-18545400	Weak transcription	A549	lung
28	chr19:18541000-18543600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr19:18541000-18543600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr19:18541000-18543600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr19:18541000-18543600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:18541000-18543600	Weak transcription	Brain Anterior Caudate	brain
33	chr19:18541000-18543600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:18541000-18543600	Weak transcription	Brain Hippocampus Middle	brain
35	chr19:18541000-18543600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr19:18541000-18543600	Strong transcription	Fetal Intestine Large	intestine
37	chr19:18541000-18543600	Weak transcription	Pancreas	Pancrea
38	chr19:18541000-18543600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr19:18541000-18543600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr19:18541000-18543600	Weak transcription	Thymus	Thymus
41	chr19:18541000-18543600	Weak transcription	HUVEC	blood vessel
42	chr19:18541000-18543800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr19:18541000-18543800	Weak transcription	Brain Substantia Nigra	brain
44	chr19:18541000-18543800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr19:18541000-18543800	Weak transcription	HSMM	muscle
46	chr19:18541000-18543800	Weak transcription	NHDF-Ad	bronchial
47	chr19:18541000-18547800	Weak transcription	HSMMtube	muscle
48	chr19:18541200-18543600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:18541200-18544200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr19:18541400-18543600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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