Variant report

Variant	nsv978751
Chromosome Location	chr19:42036596-42073874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1346)
CpG islands
(count:61)
Chromatin interactive
region (count:25)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1346 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:42044288-42044433	K562	blood:	n/a	n/a
2	ARID3A	chr19:42069756-42070106	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:42048361-42048501	HepG2	liver:	n/a	n/a
4	ATF1	chr19:42046751-42046881	K562	blood:	n/a	n/a
5	ATF1	chr19:42037809-42038256	K562	blood:	n/a	n/a
6	ATF2	chr19:42037562-42038519	GM12878	blood:	n/a	n/a
7	ATF2	chr19:42041209-42041983	GM12878	blood:	n/a	n/a
8	ATF2	chr19:42057741-42058452	GM12878	blood:	n/a	n/a
9	ATF2	chr19:42055362-42056183	GM12878	blood:	n/a	n/a
10	ATF2	chr19:42058880-42059462	GM12878	blood:	n/a	n/a
11	ATF2	chr19:42041202-42042096	GM12878	blood:	n/a	n/a
12	BACH1	chr19:42070923-42071061	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr19:42069740-42070116	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr19:42048903-42048999	K562	blood:	n/a	n/a
15	BACH1	chr19:42048408-42048594	K562	blood:	n/a	n/a
16	BATF	chr19:42055692-42056029	GM12878	blood:	n/a	n/a
17	BATF	chr19:42041513-42041943	GM12878	blood:	n/a	n/a
18	BATF	chr19:42037778-42038228	GM12878	blood:	n/a	n/a
19	BCL11A	chr19:42041151-42041932	GM12878	blood:	n/a	n/a
20	BCL11A	chr19:42041523-42041834	GM12878	blood:	n/a	n/a
21	BCL3	chr19:42069451-42070328	A549	lung:	n/a	n/a
22	BCL3	chr19:42041346-42042017	GM12878	blood:	n/a	n/a
23	BCLAF1	chr19:42041201-42042022	GM12878	blood:	n/a	n/a
24	BCLAF1	chr19:42055316-42056221	GM12878	blood:	n/a	n/a
25	BCLAF1	chr19:42037618-42038574	GM12878	blood:	n/a	n/a
26	BCLAF1	chr19:42058839-42059499	GM12878	blood:	n/a	n/a
27	BHLHE40	chr19:42069778-42070086	GM12878	blood:	n/a	n/a
28	BHLHE40	chr19:42041299-42041952	GM12878	blood:	n/a	n/a
29	BHLHE40	chr19:42048495-42048573	GM12878	blood:	n/a	n/a
30	BHLHE40	chr19:42058942-42059293	GM12878	blood:	n/a	n/a
31	BRCA1	chr19:42069853-42070107	HepG2	liver:	n/a	n/a
32	BRCA1	chr19:42057929-42058234	GM12878	blood:	n/a	n/a
33	CBX3	chr19:42060178-42060444	K562	blood:	n/a	n/a
34	CEBPB	chr19:42069780-42070112	HepG2	liver:	n/a	n/a
35	CEBPB	chr19:42041130-42042105	GM12878	blood:	n/a	n/a
36	CEBPB	chr19:42049039-42049224	K562	blood:	n/a	n/a
37	CEBPB	chr19:42049475-42049610	K562	blood:	n/a	n/a
38	CEBPB	chr19:42038111-42038379	A549	lung:	n/a	n/a
39	CEBPB	chr19:42038006-42038343	K562	blood:	n/a	n/a
40	CEBPB	chr19:42037315-42037604	MCF-7	breast:	n/a	n/a
41	CHD1	chr19:42057707-42059420	GM12878	blood:	n/a	n/a
42	CHD1	chr19:42041480-42041892	GM12878	blood:	n/a	n/a
43	CHD1	chr19:42055733-42056721	GM12878	blood:	n/a	n/a
44	CHD1	chr19:42055166-42055503	GM12878	blood:	n/a	n/a
45	CHD2	chr19:42041407-42041846	GM12878	blood:	n/a	n/a
46	CHD2	chr19:42069816-42070119	HepG2	liver:	n/a	n/a
47	CHD2	chr19:42055607-42055977	GM12878	blood:	n/a	n/a
48	CREB1	chr19:42041278-42042051	GM12878	blood:	n/a	n/a
49	CREB1	chr19:42037728-42038519	GM12878	blood:	n/a	n/a
50	CREB1	chr19:42037826-42038212	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42071114-42071164	NH-A	brain:	n/a
2	chr19:42071114-42071164	NB4	blood:	n/a
3	chr19:42071114-42071164	HIPEpiC	eye:	n/a
4	chr19:42071114-42071164	HepG2	liver:	n/a
5	chr19:42071114-42071164	HNPCEpiC	eye:	n/a
6	chr19:42071114-42071164	PrEC	prostate:	n/a
7	chr19:42071114-42071164	HRPEpiC	eye:	n/a
8	chr19:42071114-42071164	HL-60	blood:	n/a
9	chr19:42071114-42071164	K562	blood:	n/a
10	chr19:42071114-42071164	HRCEpiC	kidney:	n/a
11	chr19:42071114-42071164	HRE	kidney:	n/a
12	chr19:42071114-42071164	HCF	heart:	n/a
13	chr19:42071114-42071164	GM12892	blood:	n/a
14	chr19:42071114-42071164	HAEpiC	amniotic membrane:	n/a
15	chr19:42071114-42071164	LNCaP	prostate:	n/a
16	chr19:42071114-42071164	HEEpiC	esophagus:	n/a
17	chr19:42071114-42071164	MCF10A-Er-Src	breast:	n/a
18	chr19:42071114-42071164	ovcar-3	ovarian:	n/a
19	chr19:42071114-42071164	AG09319	gingival:	n/a
20	chr19:42071114-42071164	PFSK-1	brain:	n/a
21	chr19:42071114-42071164	HCPEpiC	choroid plexus:	n/a
22	chr19:42071114-42071164	SK-N-MC	brain:	n/a
23	chr19:42071114-42071164	BE2_C	brain:	n/a
24	chr19:42071114-42071164	HPAEpiC	pulmonary alveolar:	n/a
25	chr19:42071114-42071164	T-47D	breast:	n/a
26	chr19:42071114-42071164	IMR90	lung:	fetal
27	chr19:42071114-42071164	GM12878	blood:	n/a
28	chr19:42071114-42071164	Jurkat	blood:	n/a
29	chr19:42071114-42071164	SK-N-SH_RA	brain:	n/a
30	chr19:42071114-42071164	NHDF-neo	bronchial:	n/a
31	chr19:42071114-42071164	GM12891	blood:	n/a
32	chr19:42071114-42071164	AG04449	skin:	fetal
33	chr19:42071114-42071164	ECC-1	luminal epithelium:	n/a
34	chr19:42071114-42071164	Hepatocyte	liver:	n/a
35	chr19:42071114-42071164	GM06990	blood:	n/a
36	chr19:42071114-42071164	H1-hESC	embryonic stem cell:	embryo
37	chr19:42071114-42071164	SK-N-SH	brain:	n/a
38	chr19:42071114-42071164	AG04450	lung:	fetal
39	chr19:42071114-42071164	ProgFib	skin:	n/a
40	chr19:42071114-42071164	HMEC	breast:	n/a
41	chr19:42071114-42071164	SKMC	muscle:	n/a
42	chr19:42071114-42071164	BJ	skin:	n/a
43	chr19:42071114-42071164	SAEC	small airway:	n/a
44	chr19:42071114-42071164	HCT-116	colon:	n/a
45	chr19:42071114-42071164	GM19239	blood:	n/a
46	chr19:42071114-42071164	CMK	blood:	n/a
47	chr19:42071114-42071164	Caco-2	colon:	n/a
48	chr19:42071114-42071164	AoSMC	blood vessel:	n/a
49	chr19:42071114-42071164	MCF-7	breast:	n/a
50	chr19:42071114-42071164	Hela-S3	cervix:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42069422..42070951-chr19:42073170..42075974,2	MCF-7	breast:
2	chr19:42036448..42038567-chr19:42052200..42053873,2	MCF-7	breast:
3	chr19:42055153..42057086-chr19:42062207..42063970,2	K562	blood:
4	chr19:41954921..41955448-chr19:42069995..42070621,2	MCF-7	breast:
5	chr19:42035785..42038762-chr19:42042099..42044984,2	MCF-7	breast:
6	chr19:41955014..41955888-chr19:42048054..42049030,2	K562	blood:
7	chr19:41970790..41973417-chr19:42039173..42040939,2	K562	blood:
8	chr19:42071841..42072361-chr2:230045042..230045586,2	MCF-7	breast:
9	chr19:42065450..42067193-chr19:42070166..42071920,2	K562	blood:
10	chr19:42055107..42057086-chr19:42062207..42064223,3	K562	blood:
11	chr19:41955214..41955908-chr19:42043733..42044434,2	MCF-7	breast:
12	chr19:41955026..41955865-chr19:42069595..42070117,2	K562	blood:
13	chr19:41954861..41955874-chr19:42069542..42070514,6	MCF-7	breast:
14	chr19:41920096..41922257-chr19:42065475..42067160,2	MCF-7	breast:
15	chr19:42048044..42048836-chr19:42069540..42070426,2	K562	blood:
16	chr19:41959542..41961581-chr19:42071875..42074732,2	K562	blood:
17	chr19:42044232..42044742-chr19:42076655..42077555,2	MCF-7	breast:
18	chr19:41847464..41848006-chr19:42069412..42069986,2	MCF-7	breast:
19	chr19:41943990..41946987-chr19:42072423..42074173,2	K562	blood:
20	chr19:41955365..41955940-chr19:42043884..42044391,2	K562	blood:
21	chr19:42069422..42070951-chr19:42073170..42075974,2	MCF-7	breast:
22	chr19:42048016..42049035-chr19:42076640..42077541,6	MCF-7	breast:
23	chr19:42048109..42049006-chr19:42076514..42077838,6	MCF-7	breast:
24	chr19:42048044..42048836-chr19:42069540..42070426,2	K562	blood:
25	chr19:41955066..41955972-chr19:42043125..42044734,10	MCF-7	breast:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C19orf69-2	chr19:42051554-42051558	ENSG00000268027.1
2	lnc-C19orf69-2	chr19:42055888-42055920	ENSG00000268027.1
3	lnc-C19orf69-2	chr19:42061321-42061469	ENSG00000268027.1
4	lnc-CEACAM21-2	chr19:42041860-42041963	ENSG00000270164.1
5	lnc-C19orf69-2	chr19:42058123-42058198	ENSG00000268027.1
6	lnc-C19orf69-2	chr19:42057550-42057864	ENSG00000268027.1
7	lnc-CEACAM21-2	chr19:42041929-42041963	ENSG00000270164.1
8	lnc-CEACAM21-3	chr19:42038230-42038534	ENSG00000268355.1
9	lnc-CEACAM21-2	chr19:42042963-42043266	ENSG00000270164.1
10	lnc-CEACAM21-3	chr19:42037786-42038237	ENSG00000268355.1
11	lnc-C19orf69-2	chr19:42061580-42061832	ENSG00000268027.1
12	lnc-C19orf69-2	chr19:42060076-42060116	ENSG00000268027.1
13	lnc-CEACAM21-2	chr19:42041545-42043262	ENSG00000270164.1
14	lnc-C19orf69-2	chr19:42061580-42061621	ENSG00000268027.1
15	lnc-C19orf69-2	chr19:42060076-42060116	ENSG00000268027.1
16	lnc-CEACAM21-3	chr19:42037647-42037935	ENSG00000268355.1
17	lnc-C19orf69-2	chr19:42055888-42055920	ENSG00000268027.1
18	lnc-C19orf69-2	chr19:42061321-42061469	ENSG00000268027.1
19	lnc-ATP5SL-2	chr19:42057938-42058639	NONHSAT066473
20	lnc-CEACAM21-2	chr19:42042960-42043266	ENSG00000270164.1
21	lnc-CEACAM21-2	chr19:42042960-42043264	ENSG00000270164.1
22	lnc-CEACAM21-2	chr19:42041702-42042145	ENSG00000270164.1
23	lnc-CEACAM21-3	chr19:42037566-42037693	ENSG00000268355.1
24	lnc-CEACAM21-2	chr19:42042090-42042145	ENSG00000270164.1
25	lnc-C19orf69-2	chr19:42057550-42057672	ENSG00000268027.1
26	lnc-CEACAM21-2	chr19:42042076-42042145	ENSG00000270164.1

No data

Variant related genes	Relation type
ENSG00000270164	TF binding region
ENSG00000268355	TF binding region
ENSG00000268027	TF binding region
CEACAM21	TF binding region
ENSG00000270164	CpG island
ENSG00000268355	CpG island
ENSG00000268027	CpG island
CEACAM21	CpG island
ENSG00000007129	chromatin interactions
ENSG00000268355	chromatin interactions
ENSG00000248098	chromatin interactions
ENSG00000268027	chromatin interactions
ENSG00000105329	chromatin interactions
ENSG00000105341	chromatin interactions

Extended variants
information (count: 1285 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1285 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561819682	chr19:42036599-42036600	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs142147956	chr19:42036612-42036613	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs556282219	chr19:42036630-42036631	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs186439239	chr19:42036652-42036653	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs190920355	chr19:42036713-42036714	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs569867439	chr19:42036726-42036727	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs533077167	chr19:42036763-42036764	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs151201483	chr19:42036776-42036777	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs16975329	chr19:42036793-42036794	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534890669	chr19:42036846-42036847	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs547314291	chr19:42036871-42036872	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs55786333	chr19:42036878-42036879	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs368317444	chr19:42036887-42036888	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs183087120	chr19:42036930-42036931	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs535706338	chr19:42037012-42037013	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs59333579	chr19:42037027-42037028	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568876607	chr19:42037046-42037047	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs539941953	chr19:42037095-42037096	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs557947353	chr19:42037127-42037128	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs573025932	chr19:42037177-42037178	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs74394525	chr19:42037185-42037186	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs555744784	chr19:42037193-42037194	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs371859801	chr19:42037206-42037207	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs571724967	chr19:42037296-42037297	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs573985872	chr19:42037314-42037315	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs545757014	chr19:42037394-42037395	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs74890258	chr19:42037514-42037515	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs538433769	chr19:42037534-42037535	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs187626450	chr19:42037647-42037648	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs532937468	chr19:42037668-42037669	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs73933645	chr19:42037720-42037721	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs559982420	chr19:42037763-42037764	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs528734039	chr19:42037766-42037767	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs139536822	chr19:42037830-42037831	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs193063075	chr19:42037885-42037886	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs529560904	chr19:42037904-42037905	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs183219649	chr19:42037919-42037920	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs552318023	chr19:42037947-42037948	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs12462897	chr19:42037969-42037970	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs368122284	chr19:42037974-42037975	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs145168611	chr19:42037980-42037981	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs534250993	chr19:42037990-42037991	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs371626735	chr19:42038014-42038015	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs573853479	chr19:42038058-42038059	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs562266410	chr19:42038062-42038063	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs147560305	chr19:42038078-42038079	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs556481709	chr19:42038175-42038176	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs80312626	chr19:42038176-42038177	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs544678357	chr19:42038241-42038242	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs142009673	chr19:42038260-42038261	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region lncRNA	1 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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	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
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	18511947	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1299 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42029800-42037600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:42033600-42037600	ZNF genes & repeats	GM12878-XiMat	blood
3	chr19:42034000-42036600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:42034000-42037400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr19:42034200-42036800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr19:42034200-42036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:42035000-42038400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:42035200-42036800	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr19:42035200-42037600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
10	chr19:42035400-42037200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:42035600-42036600	Enhancers	Primary hematopoietic stem cells	blood
12	chr19:42035600-42036600	Bivalent Enhancer	HUVEC	blood vessel
13	chr19:42035600-42037400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr19:42035600-42037400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr19:42035800-42036600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr19:42035800-42036800	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr19:42036000-42036600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr19:42036000-42037400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr19:42036200-42036800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr19:42036200-42037000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:42036200-42037000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:42036200-42037200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr19:42036200-42038000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr19:42036200-42038200	Active TSS	HSMMtube	muscle
25	chr19:42036400-42037000	ZNF genes & repeats	Lung	lung
26	chr19:42036400-42037200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:42036400-42038400	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr19:42036600-42036800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr19:42036600-42036800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr19:42036600-42036800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
31	chr19:42036600-42036800	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr19:42036600-42036800	Weak transcription	Spleen	Spleen
33	chr19:42036600-42036800	Enhancers	HUVEC	blood vessel
34	chr19:42036600-42037000	Bivalent Enhancer	Thymus	Thymus
35	chr19:42036600-42037200	Enhancers	Left Ventricle	heart
36	chr19:42036600-42037400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:42036600-42038000	Bivalent Enhancer	Fetal Thymus	thymus
38	chr19:42036600-42038800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr19:42036600-42038800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:42036800-42037000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr19:42036800-42037000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr19:42036800-42037000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr19:42036800-42037000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
44	chr19:42036800-42037000	Enhancers	Colonic Mucosa	Colon
45	chr19:42036800-42037000	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr19:42036800-42037000	Flanking Active TSS	HUVEC	blood vessel
47	chr19:42036800-42037200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr19:42036800-42037200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr19:42036800-42037200	Enhancers	Primary hematopoietic stem cells	blood
50	chr19:42036800-42037200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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