Variant report

Variant	nsv579997
Chromosome Location	chr19:52225767-52359983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1924)
CpG islands
(count:1894)
Chromatin interactive
region (count:110)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1924 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:52313557-52313692	K562	blood:	n/a	n/a
2	ARID3A	chr19:52237226-52237413	K562	blood:	n/a	n/a
3	ARID3A	chr19:52274862-52275001	K562	blood:	n/a	n/a
4	ARID3A	chr19:52333617-52333822	K562	blood:	n/a	n/a
5	ARID3A	chr19:52302554-52302890	K562	blood:	n/a	n/a
6	ARID3A	chr19:52288166-52289145	K562	blood:	n/a	n/a
7	ARID3A	chr19:52308170-52308456	HepG2	liver:	n/a	n/a
8	ARID3A	chr19:52307809-52308459	K562	blood:	n/a	n/a
9	ARID3A	chr19:52313645-52313812	HepG2	liver:	n/a	n/a
10	ARID3A	chr19:52311894-52312194	K562	blood:	n/a	n/a
11	ARID3A	chr19:52310240-52311002	K562	blood:	n/a	n/a
12	ARID3A	chr19:52298176-52298372	K562	blood:	n/a	n/a
13	ARID3A	chr19:52306606-52307609	K562	blood:	n/a	n/a
14	ARID3A	chr19:52303443-52304384	K562	blood:	n/a	n/a
15	ARID3A	chr19:52286712-52286989	K562	blood:	n/a	n/a
16	ARID3A	chr19:52299117-52300997	K562	blood:	n/a	n/a
17	ARID3A	chr19:52281095-52281512	K562	blood:	n/a	n/a
18	ATF1	chr19:52302531-52302910	K562	blood:	n/a	n/a
19	ATF1	chr19:52288144-52288776	K562	blood:	n/a	n/a
20	ATF1	chr19:52282997-52283290	K562	blood:	n/a	n/a
21	ATF1	chr19:52310327-52310825	K562	blood:	n/a	n/a
22	ATF1	chr19:52286699-52286989	K562	blood:	n/a	n/a
23	ATF1	chr19:52299358-52299816	K562	blood:	n/a	n/a
24	ATF1	chr19:52325702-52325884	K562	blood:	n/a	n/a
25	ATF1	chr19:52239296-52239871	K562	blood:	n/a	n/a
26	ATF1	chr19:52313567-52313801	K562	blood:	n/a	n/a
27	ATF1	chr19:52237092-52237389	K562	blood:	n/a	n/a
28	ATF1	chr19:52303528-52304254	K562	blood:	n/a	n/a
29	ATF1	chr19:52290370-52290609	K562	blood:	n/a	n/a
30	ATF1	chr19:52308082-52308473	K562	blood:	n/a	n/a
31	ATF1	chr19:52243137-52243393	K562	blood:	n/a	n/a
32	ATF3	chr19:52302515-52302919	K562	blood:	n/a	n/a
33	BACH1	chr19:52303550-52304264	K562	blood:	n/a	n/a
34	BACH1	chr19:52282939-52282950	K562	blood:	n/a	n/a
35	BACH1	chr19:52306462-52306629	K562	blood:	n/a	n/a
36	BACH1	chr19:52237319-52237585	K562	blood:	n/a	n/a
37	BATF	chr19:52288219-52288683	GM12878	blood:	n/a	n/a
38	BATF	chr19:52288291-52288627	GM12878	blood:	n/a	n/a
39	BATF	chr19:52314611-52314850	GM12878	blood:	n/a	chr19:52314743-52314754
40	BATF	chr19:52314564-52314896	GM12878	blood:	n/a	chr19:52314743-52314754
41	BCL3	chr19:52226672-52227115	GM12878	blood:	n/a	n/a
42	BCL3	chr19:52226278-52226570	GM12878	blood:	n/a	n/a
43	BCL3	chr19:52226655-52227156	GM12878	blood:	n/a	n/a
44	BHLHE40	chr19:52308159-52308429	K562	blood:	n/a	n/a
45	BHLHE40	chr19:52271420-52271644	K562	blood:	n/a	n/a
46	BHLHE40	chr19:52239301-52239565	K562	blood:	n/a	n/a
47	BHLHE40	chr19:52311826-52312099	K562	blood:	n/a	n/a
48	BHLHE40	chr19:52299393-52299860	K562	blood:	n/a	n/a
49	BHLHE40	chr19:52242921-52243268	K562	blood:	n/a	chr19:52243075-52243096
50	BHLHE40	chr19:52307286-52307483	GM12878	blood:	n/a	n/a

(count:1894 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52249171-52249221	NB4	blood:	n/a
2	chr19:52227967-52228017	RPTEC	kidney:	n/a
3	chr19:52264411-52264461	HUVEC	blood vessel:	n/a
4	chr19:52249171-52249221	NB4	blood:	n/a
5	chr19:52227967-52228017	RPTEC	kidney:	n/a
6	chr19:52264411-52264461	HUVEC	blood vessel:	n/a
7	chr19:52263842-52263892	NHDF-neo	bronchial:	n/a
8	chr19:52264429-52264479	LNCaP	prostate:	n/a
9	chr19:52249171-52249221	NH-A	brain:	n/a
10	chr19:52266295-52266345	U87	brain:	n/a
11	chr19:52266482-52266532	HPAEpiC	pulmonary alveolar:	n/a
12	chr19:52227967-52228017	HL-60	blood:	n/a
13	chr19:52268814-52268864	LNCaP	prostate:	n/a
14	chr19:52227967-52228017	NT2-D1	testis:	n/a
15	chr19:52264413-52264463	ProgFib	skin:	n/a
16	chr19:52266295-52266345	Hela-S3	cervix:	n/a
17	chr19:52297519-52297569	HEK293	kidney:	embryo
18	chr19:52268814-52268864	RPTEC	kidney:	n/a
19	chr19:52228038-52228088	RPTEC	kidney:	n/a
20	chr19:52264429-52264479	CMK	blood:	n/a
21	chr19:52225777-52225827	Jurkat	blood:	n/a
22	chr19:52266642-52266692	NB4	blood:	n/a
23	chr19:52327441-52327491	AG09309	skin:	n/a
24	chr19:52264429-52264479	HUVEC	blood vessel:	n/a
25	chr19:52263842-52263892	ECC-1	luminal epithelium:	n/a
26	chr19:52253373-52253423	HAEpiC	amniotic membrane:	n/a
27	chr19:52249599-52249649	MCF-7	breast:	n/a
28	chr19:52263842-52263892	BE2_C	brain:	n/a
29	chr19:52249171-52249221	Jurkat	blood:	n/a
30	chr19:52266642-52266692	GM12891	blood:	n/a
31	chr19:52297968-52298018	ECC-1	luminal epithelium:	n/a
32	chr19:52264411-52264461	HCPEpiC	choroid plexus:	n/a
33	chr19:52256460-52256510	AG09309	skin:	n/a
34	chr19:52268814-52268864	H1-hESC	embryonic stem cell:	embryo
35	chr19:52328110-52328160	NB4	blood:	n/a
36	chr19:52266482-52266532	A549	lung:	n/a
37	chr19:52254222-52254272	HNPCEpiC	eye:	n/a
38	chr19:52256460-52256510	LNCaP	prostate:	n/a
39	chr19:52249599-52249649	HCPEpiC	choroid plexus:	n/a
40	chr19:52227357-52227407	CMK	blood:	n/a
41	chr19:52228048-52228098	HRCEpiC	kidney:	n/a
42	chr19:52264411-52264461	K562	blood:	n/a
43	chr19:52227357-52227407	HCF	heart:	n/a
44	chr19:52264413-52264463	HRPEpiC	eye:	n/a
45	chr19:52227309-52227359	SKMC	muscle:	n/a
46	chr19:52255413-52255463	HEK293	kidney:	embryo
47	chr19:52263842-52263892	HRPEpiC	eye:	n/a
48	chr19:52328110-52328160	ECC-1	luminal epithelium:	n/a
49	chr19:52253373-52253423	GM06990	blood:	n/a
50	chr19:52228400-52228450	GM12878	blood:	n/a

(count:110 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr19:52160347..52160857-chr19:52281258..52281779,2	K562	blood:
2	chr19:52239198..52241673-chr19:52241897..52244050,2	MCF-7	breast:
3	chr19:52160319..52160911-chr19:52311474..52312517,3	K562	blood:
4	chr19:52264566..52267681-chr19:52268997..52272339,3	K562	blood:
5	chr19:52209655..52212195-chr19:52248161..52250236,2	K562	blood:
6	chr19:52296674..52299242-chr19:52302622..52305432,2	K562	blood:
7	chr19:52266346..52268006-chr19:52288638..52290358,2	K562	blood:
8	chr19:52277252..52280164-chr19:52282818..52285281,2	K562	blood:
9	chr19:52191055..52194888-chr19:52301421..52305190,4	MCF-7	breast:
10	chr19:52310543..52312207-chr19:52772236..52773979,2	MCF-7	breast:
11	chr19:52325388..52327096-chr19:52332762..52335331,2	K562	blood:
12	chr19:52302303..52304352-chr19:52308836..52310824,2	K562	blood:
13	chr19:52302303..52304352-chr19:52308836..52310824,2	K562	blood:
14	chr19:52344484..52346538-chr19:52349352..52351510,2	K562	blood:
15	chr19:52286503..52287282-chr19:52313444..52314004,2	MCF-7	breast:
16	chr19:52283826..52285939-chr19:52290295..52292684,2	K562	blood:
17	chr19:52281378..52282199-chr19:52310053..52311134,3	MCF-7	breast:
18	chr19:52226072..52228761-chr19:52312561..52315584,3	MCF-7	breast:
19	chr19:52279714..52282274-chr19:52309726..52312482,2	MCF-7	breast:
20	chr19:51925248..51925915-chr19:52333639..52334203,3	K562	blood:
21	chr19:52283826..52285939-chr19:52290295..52292684,2	K562	blood:
22	chr19:52286760..52288347-chr19:52288825..52290368,2	MCF-7	breast:
23	chr19:52276673..52280164-chr19:52282818..52285281,3	K562	blood:
24	chr19:52279990..52282801-chr19:52283361..52284878,2	MCF-7	breast:
25	chr19:51976250..51976763-chr19:52286398..52287255,2	MCF-7	breast:
26	chr19:52353715..52356648-chr19:52403345..52405418,2	K562	blood:
27	chr19:52218179..52219711-chr19:52309357..52312195,2	MCF-7	breast:
28	chr19:52297423..52299062-chr19:52310490..52313161,2	MCF-7	breast:
29	chr19:52295157..52297364-chr19:52306223..52308854,2	MCF-7	breast:
30	chr19:52339899..52342041-chr19:52352045..52353775,2	K562	blood:
31	chr19:52216020..52218332-chr19:52241843..52243372,2	MCF-7	breast:
32	chr19:52327504..52330084-chr19:52332158..52334716,2	K562	blood:
33	chr19:52293197..52295427-chr19:52302350..52304718,2	K562	blood:
34	chr19:52239428..52239928-chr2:10262235..10262765,2	NB4	blood:
35	chr19:52286428..52287255-chr19:52311675..52312485,2	K562	blood:
36	chr19:52229702..52232519-chr19:52243094..52246090,2	K562	blood:
37	chr19:52237851..52239794-chr19:52278357..52281103,2	K562	blood:
38	chr19:52277252..52280164-chr19:52282818..52285281,2	K562	blood:
39	chr19:52279990..52282801-chr19:52283361..52284878,2	MCF-7	breast:
40	chr19:52271923..52274494-chr19:52279837..52282984,3	MCF-7	breast:
41	chr19:52271923..52274494-chr19:52279837..52282984,3	MCF-7	breast:
42	chr19:52346868..52349740-chr19:52363197..52365692,2	K562	blood:
43	chr19:52237851..52239794-chr19:52278357..52281103,2	K562	blood:
44	chr19:52246232..52248265-chr19:52275684..52277593,2	K562	blood:
45	chr19:52300406..52303800-chr19:52305611..52308534,3	K562	blood:
46	chr19:52357534..52360179-chr19:52587172..52589645,2	K562	blood:
47	chr19:52288793..52290684-chr19:52309015..52310845,2	MCF-7	breast:
48	chr19:52286760..52288347-chr19:52288825..52290368,2	MCF-7	breast:
49	chr19:52204536..52207246-chr19:52231773..52233515,2	K562	blood:
50	chr19:52266346..52268006-chr19:52288638..52290358,2	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FPR1-1	chr19:52284430-52284599	NONHSAT067476
2	lnc-ZNF577-2	chr19:52343146-52343370	NONHSAT067481
3	lnc-ZNF577-2	chr19:52346074-52346186	NONHSAT067482
4	lnc-FPR1-1	chr19:52284430-52284578	XLOC_013388
5	lnc-ZNF649-3	chr19:52359063-52359220	NONHSAT067488
6	lnc-ZNF577-3	chr19:52314710-52314992	NONHSAT067477
7	lnc-ZNF577-2	chr19:52346074-52346168	NONHSAT067481
8	lnc-ZNF649-3	chr19:52359056-52359220	NR_024181
9	lnc-ZNF649-3	chr19:52359056-52359220	NONHSAT067485
10	lnc-FPR1-1	chr19:52282890-52283234	XLOC_013388
11	lnc-ZNF577-2	chr19:52346442-52346577	ENSG00000269483.1
12	lnc-ZNF577-3	chr19:52307980-52308507	NONHSAT067477
13	lnc-ZNF577-3	chr19:52314710-52314992	NONHSAT067478
14	lnc-FPR1-1	chr19:52286673-52286772	NONHSAT067476
15	lnc-ZNF577-2	chr19:52342867-52343370	NONHSAT067482
16	lnc-ZNF577-2	chr19:52343024-52343132	ENSG00000268316.1
17	lnc-ZNF577-2	chr19:52343177-52343370	ENSG00000269483.1
18	lnc-ZNF577-3	chr19:52307980-52308424	NONHSAT067478
19	lnc-ZNF577-2	chr19:52343756-52344198	ENSG00000268316.1
20	lnc-FPR1-1	chr19:52283028-52283234	NONHSAT067476
21	lnc-ZNF577-2	chr19:52346074-52346166	ENSG00000269483.1
22	lnc-ZNF649-3	chr19:52359057-52359220	NONHSAT067486
23	lnc-ZNF577-2	chr19:52317206-52317230	NONHSAT067481

No data

Variant related genes	Relation type
HAS1	TF binding region
ENSG00000269483	TF binding region
ENSG00000268316	TF binding region
FPR1	TF binding region
FPR2	TF binding region
FPR3	TF binding region
HAS1	CpG island
ENSG00000269483	CpG island
ENSG00000268316	CpG island
FPR1	CpG island
FPR2	CpG island
FPR3	CpG island
ENSG00000171049	chromatin interactions
ENSG00000105509	chromatin interactions
ENSG00000171051	chromatin interactions
ENSG00000182310	chromatin interactions
ENSG00000160318	chromatin interactions
ENSG00000269403	chromatin interactions
ENSG00000187474	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000269483	chromatin interactions
ENSG00000161551	chromatin interactions
ENSG00000198093	chromatin interactions
ENSG00000238486	chromatin interactions
ENSG00000196214	chromatin interactions
GIGYF1	miRNA target sites
HIF1A	miRNA target sites
CAMTA1	miRNA target sites
YTHDC2	miRNA target sites

Extended variants
information (count: 5299 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:5299 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4802856	chr19:52225767-52225768	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538321981	chr19:52225816-52225817	Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs145645950	chr19:52225818-52225819	Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs370661976	chr19:52225902-52225903	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs35183775	chr19:52225985-52225986	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs568630861	chr19:52226002-52226003	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs535722256	chr19:52226078-52226079	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs527803319	chr19:52226138-52226139	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs552058703	chr19:52226179-52226180	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs138187792	chr19:52226203-52226204	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs189436104	chr19:52226222-52226223	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs143064103	chr19:52226278-52226279	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs73056837	chr19:52226285-52226286	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs77533850	chr19:52226291-52226292	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs575664421	chr19:52226302-52226303	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs376617216	chr19:52226397-52226398	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs76867434	chr19:52226460-52226461	Bivalent/Poised TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs561676310	chr19:52226486-52226487	Bivalent/Poised TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs537036021	chr19:52226492-52226493	Bivalent/Poised TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557353852	chr19:52226508-52226509	Bivalent/Poised TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs559514433	chr19:52226518-52226519	Bivalent/Poised TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs550042143	chr19:52226577-52226578	Bivalent/Poised TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs182001516	chr19:52226578-52226579	Bivalent/Poised TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs564459259	chr19:52226581-52226582	Bivalent/Poised TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs184845078	chr19:52226603-52226604	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs11084113	chr19:52226626-52226627	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs76633578	chr19:52226627-52226628	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs529400993	chr19:52226728-52226729	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs547642840	chr19:52226753-52226754	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs535040427	chr19:52226879-52226880	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs28731365	chr19:52226898-52226899	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs539726386	chr19:52226908-52226909	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs558068775	chr19:52226925-52226926	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs567889857	chr19:52226926-52226927	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs536594708	chr19:52226963-52226964	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs555350759	chr19:52227014-52227015	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs573620462	chr19:52227046-52227047	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs55638982	chr19:52227066-52227067	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs541141655	chr19:52227088-52227089	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs552870080	chr19:52227095-52227096	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs577947135	chr19:52227116-52227117	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs374968058	chr19:52227137-52227138	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs141701236	chr19:52227138-52227139	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs72098595	chr19:52227145-52227146	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs148249254	chr19:52227167-52227168	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs58597876	chr19:52227177-52227178	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs373882333	chr19:52227188-52227189	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs376866591	chr19:52227196-52227197	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs368951659	chr19:52227203-52227204	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs372441401	chr19:52227221-52227222	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region	1 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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD

Chromatin state (count:1187 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52223000-52226800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr19:52223200-52226400	Weak transcription	Spleen	Spleen
3	chr19:52223200-52227000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:52223200-52227800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:52223400-52226400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:52223400-52226600	Active TSS	Osteobl	bone
7	chr19:52223400-52226800	Weak transcription	Brain Substantia Nigra	brain
8	chr19:52224000-52226800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:52225000-52226200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:52225400-52226200	Weak transcription	HSMM	muscle
11	chr19:52225400-52226800	Weak transcription	K562	blood
12	chr19:52226000-52226400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr19:52226200-52226600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr19:52226200-52226600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:52226200-52227800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
16	chr19:52226200-52228000	Active TSS	HSMM	muscle
17	chr19:52226400-52226600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr19:52226400-52226600	ZNF genes & repeats	Spleen	Spleen
19	chr19:52226400-52227000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:52226400-52227000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
21	chr19:52226400-52227400	Active TSS	Ovary	ovary
22	chr19:52226600-52226800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr19:52226600-52227000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr19:52226600-52227200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
25	chr19:52226600-52227200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
26	chr19:52226600-52227200	Bivalent/Poised TSS	NHEK	skin
27	chr19:52226600-52227600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:52226600-52228000	Flanking Active TSS	Osteobl	bone
29	chr19:52226800-52227000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr19:52226800-52227000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:52226800-52227000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
32	chr19:52226800-52227000	Bivalent Enhancer	NHDF-Ad	bronchial
33	chr19:52226800-52227200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr19:52226800-52227400	Enhancers	K562	blood
35	chr19:52226800-52228000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
36	chr19:52226800-52228400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:52226800-52228800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:52226800-52228800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:52226800-52229800	Enhancers	Brain Hippocampus Middle	brain
40	chr19:52226800-52230400	Enhancers	Brain Substantia Nigra	brain
41	chr19:52227000-52227200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:52227000-52227200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:52227000-52227200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr19:52227000-52227200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
45	chr19:52227000-52227400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:52227000-52227400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:52227000-52227400	Bivalent Enhancer	Fetal Brain Female	brain
48	chr19:52227000-52227400	Bivalent Enhancer	Fetal Thymus	thymus
49	chr19:52227000-52228000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr19:52227000-52228200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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