Variant report

Variant	nsv961292
Chromosome Location	chr19:42710814-42734591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1523)
CpG islands
(count:2261)
Chromatin interactive
region (count:58)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1523 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:42723870-42724604	K562	blood:	n/a	n/a
2	ARID3A	chr19:42721688-42722457	K562	blood:	n/a	n/a
3	ARID3A	chr19:42721497-42722252	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:42724351-42724572	HepG2	liver:	n/a	n/a
5	ATF1	chr19:42721738-42722298	K562	blood:	n/a	n/a
6	ATF1	chr19:42723877-42724558	K562	blood:	n/a	n/a
7	ATF2	chr19:42721708-42722349	GM12878	blood:	n/a	n/a
8	ATF2	chr19:42724154-42724754	GM12878	blood:	n/a	n/a
9	ATF3	chr19:42724258-42724574	HepG2	liver:	n/a	n/a
10	ATF3	chr19:42721860-42722119	K562	blood:	n/a	chr19:42721865-42721876
11	ATF3	chr19:42724195-42724456	K562	blood:	n/a	n/a
12	ATF3	chr19:42711986-42712153	K562	blood:	n/a	n/a
13	ATF3	chr19:42723888-42724804	A549	lung:	n/a	chr19:42724659-42724668
14	ATF3	chr19:42724242-42724427	GM12878	blood:	n/a	n/a
15	ATF3	chr19:42723774-42725261	A549	lung:	n/a	chr19:42724659-42724668
16	ATF3	chr19:42711941-42712275	K562	blood:	n/a	n/a
17	ATF3	chr19:42724199-42724636	GM12878	blood:	n/a	n/a
18	ATF3	chr19:42721525-42722658	A549	lung:	n/a	chr19:42721865-42721876
19	BACH1	chr19:42722126-42722674	K562	blood:	n/a	n/a
20	BACH1	chr19:42734012-42734288	K562	blood:	n/a	n/a
21	BACH1	chr19:42724215-42724937	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr19:42721540-42722225	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr19:42721995-42722371	GM12878	blood:	n/a	n/a
24	BCL3	chr19:42720862-42722940	A549	lung:	n/a	chr19:42721298-42721311
25	BCL3	chr19:42732892-42735081	A549	lung:	n/a	n/a
26	BCL3	chr19:42721313-42722351	A549	lung:	n/a	n/a
27	BCL3	chr19:42723790-42724855	A549	lung:	n/a	chr19:42724510-42724523
28	BCL3	chr19:42723872-42725228	A549	lung:	n/a	chr19:42724510-42724523
29	BCL3	chr19:42733139-42735236	A549	lung:	n/a	n/a
30	BCLAF1	chr19:42721507-42721976	GM12878	blood:	n/a	n/a
31	BHLHE40	chr19:42724029-42724771	HepG2	liver:	n/a	n/a
32	BHLHE40	chr19:42724125-42724735	GM12878	blood:	n/a	n/a
33	BHLHE40	chr19:42723924-42724863	K562	blood:	n/a	n/a
34	BHLHE40	chr19:42720927-42722391	HepG2	liver:	n/a	n/a
35	BHLHE40	chr19:42711830-42711836	K562	blood:	n/a	n/a
36	BHLHE40	chr19:42712045-42712280	K562	blood:	n/a	n/a
37	BHLHE40	chr19:42723906-42724706	A549	lung:	n/a	n/a
38	BHLHE40	chr19:42720721-42722851	K562	blood:	n/a	n/a
39	BHLHE40	chr19:42733496-42734496	K562	blood:	n/a	n/a
40	BHLHE40	chr19:42724126-42724582	HepG2	liver:	n/a	n/a
41	BHLHE40	chr19:42720994-42722371	GM12878	blood:	n/a	n/a
42	BHLHE40	chr19:42732835-42733142	K562	blood:	n/a	chr19:42733015-42733031
43	BHLHE40	chr19:42721841-42722351	A549	lung:	n/a	n/a
44	BRCA1	chr19:42725085-42725127	HepG2	liver:	n/a	n/a
45	BRCA1	chr19:42721030-42721755	H1-hESC	embryonic stem cell:	n/a	n/a
46	BRCA1	chr19:42721318-42721998	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr19:42724346-42724528	HepG2	liver:	n/a	n/a
48	CBX3	chr19:42720853-42721234	K562	blood:	n/a	n/a
49	CBX3	chr19:42733929-42734268	K562	blood:	n/a	n/a
50	CBX3	chr19:42723708-42724697	K562	blood:	n/a	n/a

(count:2261 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42729528-42729578	AG04449	skin:	fetal
2	chr19:42724343-42724393	PrEC	prostate:	n/a
3	chr19:42729731-42729781	ovcar-3	ovarian:	n/a
4	chr19:42724343-42724393	ovcar-3	ovarian:	n/a
5	chr19:42729528-42729578	AG04449	skin:	fetal
6	chr19:42724343-42724393	PrEC	prostate:	n/a
7	chr19:42729731-42729781	ovcar-3	ovarian:	n/a
8	chr19:42724343-42724393	ovcar-3	ovarian:	n/a
9	chr19:42721974-42722024	HPAEpiC	pulmonary alveolar:	n/a
10	chr19:42721974-42722024	NB4	blood:	n/a
11	chr19:42721974-42722024	HEEpiC	esophagus:	n/a
12	chr19:42728860-42728910	HEK293	kidney:	embryo
13	chr19:42731177-42731227	HL-60	blood:	n/a
14	chr19:42724394-42724444	T-47D	breast:	n/a
15	chr19:42721878-42721928	AG09319	gingival:	n/a
16	chr19:42721920-42721970	GM12892	blood:	n/a
17	chr19:42720994-42721044	U87	brain:	n/a
18	chr19:42721476-42721526	HEEpiC	esophagus:	n/a
19	chr19:42731177-42731227	T-47D	breast:	n/a
20	chr19:42730039-42730089	PrEC	prostate:	n/a
21	chr19:42724308-42724358	HNPCEpiC	eye:	n/a
22	chr19:42719482-42719532	HRPEpiC	eye:	n/a
23	chr19:42724343-42724393	A549	lung:	n/a
24	chr19:42724717-42724767	SK-N-MC	brain:	n/a
25	chr19:42728860-42728910	SK-N-SH_RA	brain:	n/a
26	chr19:42729693-42729743	T-47D	breast:	n/a
27	chr19:42724308-42724358	Hela-S3	cervix:	n/a
28	chr19:42724001-42724051	SK-N-SH	brain:	n/a
29	chr19:42724320-42724370	SKMC	muscle:	n/a
30	chr19:42724308-42724358	SAEC	small airway:	n/a
31	chr19:42722189-42722239	MCF10A-Er-Src	breast:	n/a
32	chr19:42729693-42729743	HAEpiC	amniotic membrane:	n/a
33	chr19:42734510-42734560	HRCEpiC	kidney:	n/a
34	chr19:42718126-42718176	IMR90	lung:	fetal
35	chr19:42721937-42721987	HL-60	blood:	n/a
36	chr19:42727308-42727358	NHDF-neo	bronchial:	n/a
37	chr19:42729528-42729578	RPTEC	kidney:	n/a
38	chr19:42722189-42722239	HCM	heart:	n/a
39	chr19:42734510-42734560	SK-N-SH	brain:	n/a
40	chr19:42731177-42731227	SK-N-SH	brain:	n/a
41	chr19:42722068-42722118	NB4	blood:	n/a
42	chr19:42724191-42724241	HRPEpiC	eye:	n/a
43	chr19:42718126-42718176	Hela-S3	cervix:	n/a
44	chr19:42720994-42721044	Jurkat	blood:	n/a
45	chr19:42721870-42721920	PrEC	prostate:	n/a
46	chr19:42729528-42729578	MCF10A-Er-Src	breast:	n/a
47	chr19:42722032-42722082	ProgFib	skin:	n/a
48	chr19:42724717-42724767	MCF-7	breast:	n/a
49	chr19:42729731-42729781	Caco-2	colon:	n/a
50	chr19:42719482-42719532	CMK	blood:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:42705928..42708384-chr19:42729085..42731992,2	MCF-7	breast:
2	chr16:88877887..88878452-chr19:42723725..42724636,2	NB4	blood:
3	chr19:42710660..42713787-chr19:42715673..42719077,4	MCF-7	breast:
4	chr19:42733053..42735224-chr19:58905022..58907163,2	K562	blood:
5	chr19:42720002..42723178-chr19:42782377..42785942,3	MCF-7	breast:
6	chr19:42727184..42730289-chr19:42743232..42748648,6	MCF-7	breast:
7	chr19:42721143..42723529-chr19:42724223..42726542,2	MCF-7	breast:
8	chr19:42722142..42727268-chr19:42743805..42748670,12	MCF-7	breast:
9	chr19:42708751..42711401-chr19:42723383..42725650,2	MCF-7	breast:
10	chr19:42709656..42714046-chr19:42719903..42723160,8	MCF-7	breast:
11	chr19:42709816..42714976-chr19:42719598..42724584,11	MCF-7	breast:
12	chr19:42729486..42731100-chr19:42750431..42752327,2	MCF-7	breast:
13	chr19:42720906..42722950-chr19:42729741..42731293,2	MCF-7	breast:
14	chr19:42719389..42721049-chr19:42805562..42808005,2	MCF-7	breast:
15	chr19:42721143..42723529-chr19:42724223..42726542,2	MCF-7	breast:
16	chr19:42634645..42637332-chr19:42721658..42723900,2	K562	blood:
17	chr19:42720551..42722123-chr19:42758184..42760229,2	MCF-7	breast:
18	chr19:42722916..42725353-chr19:42805921..42808141,2	K562	blood:
19	chr19:42724002..42724965-chr3:172468327..172468962,2	Hela-S3	cervix:
20	chr19:42719999..42721511-chr19:42755568..42757404,2	MCF-7	breast:
21	chr19:42578256..42580709-chr19:42719856..42723017,3	MCF-7	breast:
22	chr19:42720291..42721967-chr19:42744668..42747834,3	MCF-7	breast:
23	chr19:42722598..42724600-chr19:42754486..42756039,2	MCF-7	breast:
24	chr19:42578674..42581284-chr19:42716222..42717908,2	K562	blood:
25	chr19:42720843..42724936-chr19:42805318..42808035,4	MCF-7	breast:
26	chr19:42732938..42734464-chr19:42741874..42743780,2	MCF-7	breast:
27	chr19:42732520..42734160-chr19:42754071..42756928,2	MCF-7	breast:
28	chr19:42724704..42726606-chr19:42754008..42756562,2	MCF-7	breast:
29	chr19:1269387..1270321-chr19:42724030..42724721,2	Hela-S3	cervix:
30	chr19:42705772..42709230-chr19:42709597..42712462,3	MCF-7	breast:
31	chr19:42636373..42638915-chr19:42720548..42722250,2	K562	blood:
32	chr19:42687243..42689479-chr19:42729926..42732337,2	MCF-7	breast:
33	chr19:42720362..42722122-chr19:42805424..42807081,2	K562	blood:
34	chr19:42710660..42713787-chr19:42715673..42719077,4	MCF-7	breast:
35	chr19:42704957..42708119-chr19:42733053..42736266,3	K562	blood:
36	chr19:42702882..42705011-chr19:42731781..42733580,2	MCF-7	breast:
37	chr19:42733570..42735969-chr19:42900000..42902520,2	K562	blood:
38	chr19:42713667..42715575-chr19:42772542..42775462,2	K562	blood:
39	chr19:42619821..42622788-chr19:42721152..42723229,2	K562	blood:
40	chr19:42733569..42736510-chr19:42736596..42742649,6	MCF-7	breast:
41	chr19:42725681..42728564-chr19:42783789..42786362,2	MCF-7	breast:
42	chr19:42720638..42724432-chr19:42771891..42775014,4	MCF-7	breast:
43	chr19:42721514..42722023-chr5:172261242..172261829,2	HCT-116	colon:
44	chr19:42719158..42725942-chr19:42744280..42751391,14	MCF-7	breast:
45	chr19:42711431..42713016-chr19:42748849..42750856,2	K562	blood:
46	chr19:42579973..42582348-chr19:42709552..42711601,2	K562	blood:
47	chr19:42730932..42732486-chr19:42735197..42737295,2	MCF-7	breast:
48	chr19:42719792..42722067-chr19:42782556..42784868,3	MCF-7	breast:
49	chr19:42637111..42637810-chr19:42733569..42734439,2	K562	blood:
50	chr19:42722955..42725823-chr19:42729775..42732518,3	MCF-7	breast:

No data

Variant related genes	Relation type
DEDD2	TF binding region
ZNF526	TF binding region
DEDD2	CpG island
ZNF526	CpG island
ENSG00000265122	chromatin interactions
ENSG00000113719	chromatin interactions
ENSG00000213904	chromatin interactions
ENSG00000105723	chromatin interactions
ENSG00000268643	chromatin interactions
ENSG00000028277	chromatin interactions
ENSG00000079462	chromatin interactions
ENSG00000105732	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000266226	chromatin interactions
ENSG00000254887	chromatin interactions
ENSG00000267493	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000198931	chromatin interactions
ENSG00000079432	chromatin interactions
ENSG00000114346	chromatin interactions
ENSG00000204957	chromatin interactions
ENSG00000160570	chromatin interactions
ENSG00000188368	chromatin interactions
ENSG00000167625	chromatin interactions
ENSG00000105429	chromatin interactions

Extended variants
information (count: 883 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545773308	chr19:42710998-42710999	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs565484755	chr19:42711005-42711006	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs528402607	chr19:42711048-42711049	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs146102098	chr19:42711092-42711093	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs546550855	chr19:42711143-42711144	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs548020586	chr19:42711150-42711151	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs567223554	chr19:42711159-42711160	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs564925180	chr19:42711281-42711282	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs375756143	chr19:42711301-42711302	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs78856064	chr19:42711309-42711310	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs548729020	chr19:42711314-42711315	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs188143074	chr19:42711317-42711318	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs550118833	chr19:42711406-42711407	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs537092897	chr19:42711473-42711474	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs148735015	chr19:42711475-42711476	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs570663021	chr19:42711490-42711491	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs568512747	chr19:42711496-42711497	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs534882538	chr19:42711519-42711520	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs142284649	chr19:42711555-42711556	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs151236443	chr19:42711576-42711577	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs374603926	chr19:42711606-42711607	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs535887429	chr19:42711684-42711685	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs535253253	chr19:42711725-42711726	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs181956905	chr19:42711749-42711750	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186295592	chr19:42711767-42711768	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374128310	chr19:42711850-42711851	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545481958	chr19:42711856-42711857	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs559266077	chr19:42711954-42711955	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs370745184	chr19:42711955-42711956	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548460009	chr19:42711962-42711963	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs372919577	chr19:42711966-42711967	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs190829096	chr19:42711993-42711994	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs8182491	chr19:42712024-42712025	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs181700628	chr19:42712037-42712038	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs186709114	chr19:42712047-42712048	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs534376884	chr19:42712054-42712055	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs530352291	chr19:42712139-42712140	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs191097669	chr19:42712151-42712152	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs79530827	chr19:42712183-42712184	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs369682238	chr19:42712200-42712201	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs530987913	chr19:42712212-42712213	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs371953104	chr19:42712214-42712215	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs372677445	chr19:42712257-42712258	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs375494866	chr19:42712265-42712266	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs558903046	chr19:42712281-42712282	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs534675821	chr19:42712298-42712299	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs374794740	chr19:42712408-42712409	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs183159790	chr19:42712427-42712428	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs368744551	chr19:42712436-42712437	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs535310263	chr19:42712437-42712438	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	20841430	CNVD

Chromatin state (count:2169 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42696600-42712200	Weak transcription	Fetal Kidney	kidney
2	chr19:42699800-42714000	Weak transcription	Fetal Brain Male	brain
3	chr19:42700200-42714600	Strong transcription	Brain Germinal Matrix	brain
4	chr19:42700400-42714600	Strong transcription	Stomach Smooth Muscle	stomach
5	chr19:42700400-42717200	Weak transcription	Psoas Muscle	Psoas
6	chr19:42700400-42719800	Strong transcription	Fetal Stomach	stomach
7	chr19:42701000-42720200	Weak transcription	Fetal Heart	heart
8	chr19:42701200-42715200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:42701200-42719800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:42701400-42714400	Strong transcription	Brain Angular Gyrus	brain
11	chr19:42701400-42715200	Strong transcription	Fetal Brain Female	brain
12	chr19:42701600-42715200	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr19:42702000-42711000	Strong transcription	Gastric	stomach
14	chr19:42702000-42714200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:42702000-42715200	Strong transcription	Fetal Intestine Large	intestine
16	chr19:42702000-42719400	Strong transcription	Fetal Intestine Small	intestine
17	chr19:42702200-42711200	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:42702200-42714400	Strong transcription	Aorta	Aorta
19	chr19:42702400-42714400	Strong transcription	Brain Cingulate Gyrus	brain
20	chr19:42702400-42714400	Strong transcription	HepG2	liver
21	chr19:42702400-42714600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:42702400-42714600	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr19:42703000-42720400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr19:42704200-42711000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:42704800-42711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr19:42704800-42711600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr19:42704800-42714400	Strong transcription	Brain Substantia Nigra	brain
28	chr19:42705000-42711400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr19:42705000-42713600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:42705800-42714200	Strong transcription	Rectal Smooth Muscle	rectum
31	chr19:42705800-42714400	Strong transcription	Left Ventricle	heart
32	chr19:42706000-42715400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr19:42706200-42720000	Weak transcription	Right Atrium	heart
34	chr19:42706600-42714400	Strong transcription	Brain Hippocampus Middle	brain
35	chr19:42706800-42711200	Strong transcription	Lung	lung
36	chr19:42706800-42714400	Strong transcription	Ovary	ovary
37	chr19:42706800-42714400	Strong transcription	Dnd41	blood
38	chr19:42706800-42714600	Strong transcription	Right Ventricle	heart
39	chr19:42707000-42712000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr19:42707000-42714200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr19:42707200-42714600	Strong transcription	Adipose Nuclei	Adipose
42	chr19:42707200-42715600	Strong transcription	Fetal Muscle Leg	muscle
43	chr19:42707200-42715800	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:42707400-42711200	Strong transcription	Colonic Mucosa	Colon
45	chr19:42707400-42712000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:42707400-42713000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr19:42707400-42717400	Strong transcription	Thymus	Thymus
48	chr19:42707800-42711000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr19:42707800-42713800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:42707800-42715200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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