Variant report

Variant	nsv1008033
Chromosome Location	chr1:151785029-151843154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1459)
CpG islands
(count:2565)
Chromatin interactive
region (count:173)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1459 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:151808941-151809217	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:151805200-151805358	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:151803380-151803542	HepG2	liver:	n/a	n/a
4	ATF1	chr1:151839722-151839796	K562	blood:	n/a	n/a
5	BACH1	chr1:151812338-151812492	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:151818746-151819120	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr1:151811102-151811254	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr1:151808820-151809287	GM12878	blood:	n/a	n/a
9	BHLHE40	chr1:151815976-151816258	GM12878	blood:	n/a	n/a
10	BHLHE40	chr1:151812260-151812487	GM12878	blood:	n/a	n/a
11	BHLHE40	chr1:151818555-151819014	K562	blood:	n/a	n/a
12	BHLHE40	chr1:151803326-151803448	K562	blood:	n/a	n/a
13	BHLHE40	chr1:151808965-151809196	K562	blood:	n/a	n/a
14	BHLHE40	chr1:151810621-151811469	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:151833027-151833153	K562	blood:	n/a	n/a
16	BHLHE40	chr1:151832621-151832821	K562	blood:	n/a	n/a
17	BHLHE40	chr1:151808928-151809235	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:151832474-151832904	GM12878	blood:	n/a	chr1:151832488-151832504
19	BHLHE40	chr1:151804786-151805661	HepG2	liver:	n/a	n/a
20	BRCA1	chr1:151811457-151811642	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr1:151818701-151819028	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr1:151808884-151809800	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr1:151809124-151809225	HepG2	liver:	n/a	n/a
24	BRCA1	chr1:151803246-151803585	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr1:151804298-151804459	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr1:151805090-151805410	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr1:151818515-151818966	K562	blood:	n/a	n/a
28	CBX3	chr1:151803273-151803590	K562	blood:	n/a	n/a
29	CBX3	chr1:151840127-151840520	K562	blood:	n/a	n/a
30	CEBPB	chr1:151840216-151840484	K562	blood:	n/a	n/a
31	CEBPB	chr1:151803236-151803484	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr1:151804973-151805409	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr1:151834301-151834605	A549	lung:	n/a	chr1:151834460-151834471
34	CEBPB	chr1:151822011-151822130	HepG2	liver:	n/a	chr1:151822058-151822069
35	CEBPB	chr1:151804180-151804501	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr1:151807608-151807826	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr1:151818725-151819020	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr1:151805092-151805233	A549	lung:	n/a	n/a
39	CEBPB	chr1:151808933-151809820	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr1:151813744-151813756	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr1:151834323-151834629	HepG2	liver:	n/a	chr1:151834460-151834471
42	CEBPB	chr1:151840286-151840524	A549	lung:	n/a	n/a
43	CEBPB	chr1:151839828-151840605	IMR90	lung:	n/a	n/a
44	CEBPB	chr1:151804964-151805363	ECC-1	luminal epithelium:	n/a	n/a
45	CEBPB	chr1:151840201-151840590	A549	lung:	n/a	n/a
46	CEBPB	chr1:151834299-151834597	Hela-S3	cervix:	n/a	chr1:151834460-151834471
47	CEBPB	chr1:151792715-151793056	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr1:151834298-151834621	K562	blood:	n/a	chr1:151834460-151834471
49	CEBPB	chr1:151841902-151842064	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr1:151829931-151829988	HepG2	liver:	n/a	n/a

(count:2565 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151826533-151826583	GM19239	blood:	n/a
2	chr1:151826167-151826217	NT2-D1	testis:	n/a
3	chr1:151810899-151810949	PrEC	prostate:	n/a
4	chr1:151826533-151826583	GM19239	blood:	n/a
5	chr1:151826167-151826217	NT2-D1	testis:	n/a
6	chr1:151810899-151810949	PrEC	prostate:	n/a
7	chr1:151811364-151811414	MCF10A-Er-Src	breast:	n/a
8	chr1:151788227-151788277	AG09309	skin:	n/a
9	chr1:151826205-151826255	HCM	heart:	n/a
10	chr1:151788227-151788277	RPTEC	kidney:	n/a
11	chr1:151811364-151811414	PrEC	prostate:	n/a
12	chr1:151826167-151826217	NHBE	bronchial:	n/a
13	chr1:151811620-151811670	GM12891	blood:	n/a
14	chr1:151800000-151800050	SAEC	small airway:	n/a
15	chr1:151799266-151799316	BJ	skin:	n/a
16	chr1:151800946-151800996	HepG2	liver:	n/a
17	chr1:151826123-151826173	SK-N-MC	brain:	n/a
18	chr1:151833775-151833825	A549	lung:	n/a
19	chr1:151825974-151826024	HEEpiC	esophagus:	n/a
20	chr1:151810586-151810636	AG10803	skin:	n/a
21	chr1:151800000-151800050	Jurkat	blood:	n/a
22	chr1:151814634-151814684	IMR90	lung:	fetal
23	chr1:151802807-151802857	AG04450	lung:	fetal
24	chr1:151804260-151804310	HIPEpiC	eye:	n/a
25	chr1:151799266-151799316	SK-N-SH_RA	brain:	n/a
26	chr1:151831144-151831194	HCM	heart:	n/a
27	chr1:151805634-151805684	HNPCEpiC	eye:	n/a
28	chr1:151810904-151810954	NH-A	brain:	n/a
29	chr1:151812710-151812760	GM12878	blood:	n/a
30	chr1:151812435-151812485	NH-A	brain:	n/a
31	chr1:151800946-151800996	A549	lung:	n/a
32	chr1:151810899-151810949	HCM	heart:	n/a
33	chr1:151814634-151814684	Hepatocyte	liver:	n/a
34	chr1:151810904-151810954	SAEC	small airway:	n/a
35	chr1:151810589-151810639	BJ	skin:	n/a
36	chr1:151805661-151805711	T-47D	breast:	n/a
37	chr1:151833775-151833825	MCF-7	breast:	n/a
38	chr1:151810899-151810949	GM19239	blood:	n/a
39	chr1:151813779-151813829	ovcar-3	ovarian:	n/a
40	chr1:151826167-151826217	GM06990	blood:	n/a
41	chr1:151806893-151806943	A549	lung:	n/a
42	chr1:151826123-151826173	HRCEpiC	kidney:	n/a
43	chr1:151809534-151809584	SK-N-SH_RA	brain:	n/a
44	chr1:151812421-151812471	Hepatocyte	liver:	n/a
45	chr1:151818922-151818972	NB4	blood:	n/a
46	chr1:151805241-151805291	MCF10A-Er-Src	breast:	n/a
47	chr1:151812710-151812760	GM12891	blood:	n/a
48	chr1:151810586-151810636	HCM	heart:	n/a
49	chr1:151811923-151811973	BJ	skin:	n/a
50	chr1:151826205-151826255	SK-N-MC	brain:	n/a

(count:173 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr1:151831226..151832887-chr1:151834342..151836326,2	MCF-7	breast:
2	chr1:151252224..151254412-chr1:151807569..151809307,2	MCF-7	breast:
3	chr1:151795525..151798477-chr1:151809091..151811611,2	MCF-7	breast:
4	chr1:151430044..151432386-chr1:151809146..151811411,2	MCF-7	breast:
5	chr1:151817465..151820219-chr4:1240046..1241546,2	MCF-7	breast:
6	chr1:151818078..151821727-chr1:151829199..151833455,4	MCF-7	breast:
7	chr1:151779245..151781251-chr1:151789971..151792071,2	K562	blood:
8	chr1:151804439..151806613-chr1:152006311..152009166,3	MCF-7	breast:
9	chr1:151781396..151783619-chr1:151785148..151786691,2	MCF-7	breast:
10	chr1:151678020..151678605-chr1:151808685..151809547,3	MCF-7	breast:
11	chr1:151817858..151820155-chr1:151824236..151826556,2	K562	blood:
12	chr1:151822231..151823939-chr1:151841022..151843082,2	MCF-7	breast:
13	chr1:151808928..151809951-chr1:151853655..151854418,3	MCF-7	breast:
14	chr1:151801687..151803757-chr3:196651344..196653748,2	MCF-7	breast:
15	chr1:151782043..151784964-chr1:151791094..151793186,2	K562	blood:
16	chr1:151749151..151752129-chr1:151789791..151791884,2	MCF-7	breast:
17	chr1:151774281..151778666-chr1:151812036..151815315,4	MCF-7	breast:
18	chr1:151737837..151739955-chr1:151812642..151814916,2	MCF-7	breast:
19	chr1:151772358..151773986-chr1:151801710..151803954,2	MCF-7	breast:
20	chr1:151665450..151666493-chr1:151808600..151809515,6	K562	blood:
21	chr1:151811898..151813917-chr1:151836689..151839766,3	MCF-7	breast:
22	chr1:151814545..151817210-chr1:151817754..151819395,2	K562	blood:
23	chr1:151832360..151835660-chr1:151836036..151839920,4	MCF-7	breast:
24	chr1:151253984..151256317-chr1:151806093..151809092,2	MCF-7	breast:
25	chr1:151827756..151830746-chr1:151848383..151850324,3	MCF-7	breast:
26	chr1:151517981..151521165-chr1:151811031..151814404,3	MCF-7	breast:
27	chr1:151819170..151821882-chr1:151830861..151833145,2	K562	blood:
28	chr1:151778487..151781437-chr1:151789485..151791157,2	K562	blood:
29	chr1:151762059..151766604-chr1:151800169..151809078,15	MCF-7	breast:
30	chr1:151510584..151515702-chr1:151808389..151812312,7	MCF-7	breast:
31	chr1:151717253..151722089-chr1:151808382..151812448,4	MCF-7	breast:
32	chr1:151811099..151812634-chr7:103621578..103623542,2	MCF-7	breast:
33	chr1:151542468..151544552-chr1:151811303..151812825,2	MCF-7	breast:
34	chr1:151776821..151779307-chr1:151800357..151803039,2	MCF-7	breast:
35	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
36	chr1:151810932..151814079-chr1:151832999..151835134,4	MCF-7	breast:
37	chr1:151734599..151737302-chr1:151792867..151794521,3	MCF-7	breast:
38	chr1:151808068..151810311-chr1:151964159..151966593,4	MCF-7	breast:
39	chr1:151712112..151713087-chr1:151808881..151809397,2	MCF-7	breast:
40	chr1:151832485..151835043-chr1:151841039..151843402,2	MCF-7	breast:
41	chr1:151808172..151808926-chr4:45206985..45207611,2	MCF-7	breast:
42	chr1:151761172..151762786-chr1:151788164..151789988,2	MCF-7	breast:
43	chr1:151481758..151484470-chr1:151811083..151813836,2	MCF-7	breast:
44	chr1:151789798..151791316-chr1:151791321..151793300,2	MCF-7	breast:
45	chr1:151831860..151834809-chr1:151847817..151849613,2	MCF-7	breast:
46	chr1:151833646..151837340-chr1:151842785..151845741,4	MCF-7	breast:
47	chr1:151823384..151829926-chr1:151830365..151837191,11	MCF-7	breast:
48	chr1:151764210..151765820-chr1:151809530..151811612,2	MCF-7	breast:
49	chr1:151811113..151814780-chr1:151962857..151966577,5	MCF-7	breast:
50	chr1:151810931..151813859-chr1:151881520..151883452,3	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OAZ3-2	chr1:151814088-151814507	NONHSAT006440
2	lnc-OAZ3-2	chr1:151814353-151814507	ENSG00000234614.1
3	lnc-OAZ3-2	chr1:151822709-151826136	NONHSAT006442
4	lnc-OAZ3-2	chr1:151822708-151824008	NONHSAT006443
5	lnc-OAZ3-2	chr1:151816517-151816718	NONHSAT006443
6	lnc-OAZ3-2	chr1:151816521-151816718	NONHSAT006440
7	lnc-OAZ3-2	chr1:151822709-151826517	NONHSAT006440
8	lnc-OAZ3-2	chr1:151816521-151816718	ENSG00000234614.1
9	lnc-OAZ3-2	chr1:151816491-151816718	NONHSAT006442
10	lnc-OAZ3-2	chr1:151811539-151811581	NONHSAT006439
11	lnc-OAZ3-2	chr1:151822709-151822861	ENSG00000234614.1
12	lnc-OAZ3-2	chr1:151822709-151823308	NONHSAT006439

No data

Variant related genes	Relation type
THEM5	TF binding region
C2CD4D	TF binding region
ENSG00000201134	TF binding region
ENSG00000234614	TF binding region
RORC	TF binding region
THEM5	CpG island
C2CD4D	CpG island
ENSG00000201134	CpG island
ENSG00000234614	CpG island
RORC	CpG island
ENSG00000196407	chromatin interactions
ENSG00000143450	chromatin interactions
ENSG00000163191	chromatin interactions
ENSG00000229021	chromatin interactions
ENSG00000207606	chromatin interactions
ENSG00000163605	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000143375	chromatin interactions
ENSG00000203288	chromatin interactions
ENSG00000206980	chromatin interactions
ENSG00000159445	chromatin interactions
ENSG00000143365	chromatin interactions
ENSG00000142731	chromatin interactions
ENSG00000225556	chromatin interactions
ENSG00000232671	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000268288	chromatin interactions
ENSG00000213171	chromatin interactions
ENSG00000182134	chromatin interactions
ENSG00000159377	chromatin interactions
ENSG00000232937	chromatin interactions
ENSG00000234614	chromatin interactions
ENSG00000224505	chromatin interactions
ENSG00000201134	chromatin interactions
ENSG00000197747	chromatin interactions
ENSG00000143373	chromatin interactions
ENSG00000236940	chromatin interactions
ENSG00000269489	chromatin interactions
ENSG00000159352	chromatin interactions
ENSG00000143436	chromatin interactions

Extended variants
information (count: 2273 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:2273 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573478594	chr1:151785043-151785044	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541953524	chr1:151785055-151785056	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75936264	chr1:151785135-151785136	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56101148	chr1:151785137-151785138	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527375940	chr1:151785159-151785160	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575101120	chr1:151785217-151785218	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76094439	chr1:151785221-151785222	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12145375	chr1:151785229-151785230	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2280472	chr1:151785288-151785289	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199547330	chr1:151785411-151785412	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113376979	chr1:151785417-151785418	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200870189	chr1:151785422-151785423	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202038919	chr1:151785423-151785424	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147363563	chr1:151785424-151785425	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199979672	chr1:151785432-151785433	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375068209	chr1:151785435-151785436	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200523716	chr1:151785461-151785462	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201339359	chr1:151785478-151785479	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200134900	chr1:151785510-151785511	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539370245	chr1:151785517-151785518	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368067137	chr1:151785525-151785526	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145162457	chr1:151785528-151785529	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs202022674	chr1:151785550-151785551	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533691332	chr1:151785570-151785571	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200158812	chr1:151785573-151785574	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372284422	chr1:151785575-151785576	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375612566	chr1:151785581-151785582	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12097336	chr1:151785603-151785604	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369863951	chr1:151785615-151785616	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79662743	chr1:151785628-151785629	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201273130	chr1:151785670-151785671	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs202231523	chr1:151785672-151785673	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200322129	chr1:151785689-151785690	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372774021	chr1:151785700-151785701	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201343212	chr1:151785702-151785703	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201953038	chr1:151785764-151785765	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200446012	chr1:151785768-151785769	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201629608	chr1:151785771-151785772	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199641073	chr1:151785800-151785801	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs369002008	chr1:151785803-151785804	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs200739286	chr1:151785808-151785809	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs139551639	chr1:151785819-151785820	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs199838177	chr1:151785826-151785827	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs375485199	chr1:151785831-151785832	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs376475821	chr1:151785843-151785844	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs200611527	chr1:151785845-151785846	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs533862935	chr1:151785853-151785854	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs553634669	chr1:151785885-151785886	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs112238446	chr1:151785912-151785913	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs201473835	chr1:151785931-151785932	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2065 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151764200-151787000	Weak transcription	Right Ventricle	heart
2	chr1:151764200-151792800	Weak transcription	Lung	lung
3	chr1:151764600-151787600	Weak transcription	Primary T cells from cord blood	blood
4	chr1:151770800-151787200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:151774600-151787000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:151776600-151787200	Weak transcription	Spleen	Spleen
7	chr1:151778400-151786000	Strong transcription	Thymus	Thymus
8	chr1:151778400-151792800	Weak transcription	Left Ventricle	heart
9	chr1:151778600-151792000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:151778600-151802400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:151778800-151789200	Weak transcription	Fetal Intestine Small	intestine
12	chr1:151779000-151787000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:151780000-151793400	Weak transcription	Stomach Mucosa	stomach
14	chr1:151780200-151785400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:151780200-151786800	Weak transcription	Gastric	stomach
16	chr1:151780800-151785400	Weak transcription	Dnd41	blood
17	chr1:151780800-151786600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:151781000-151786000	Strong transcription	Fetal Thymus	thymus
19	chr1:151781800-151787600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr1:151781800-151788400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:151782000-151791000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:151782200-151789000	Weak transcription	Esophagus	oesophagus
23	chr1:151782600-151787000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:151782800-151786000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:151782800-151790400	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:151783600-151790800	Strong transcription	Pancreas	Pancrea
27	chr1:151783600-151791400	Weak transcription	Hela-S3	cervix
28	chr1:151783800-151788000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:151783800-151792000	Weak transcription	Psoas Muscle	Psoas
30	chr1:151784200-151787400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:151784200-151789400	Strong transcription	Liver	Liver
32	chr1:151784400-151787000	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:151784400-151789800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:151784800-151794600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:151784800-151794800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:151785000-151785600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr1:151785200-151785800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:151785400-151785600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:151785400-151787800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr1:151785400-151788200	Strong transcription	Dnd41	blood
41	chr1:151785600-151786800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:151785800-151786000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:151785800-151786200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr1:151785800-151786800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:151786000-151786200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:151786000-151788200	Genic enhancers	Fetal Thymus	thymus
47	chr1:151786000-151788200	Genic enhancers	Thymus	Thymus
48	chr1:151786600-151791000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:151786600-151793600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr1:151786800-151788000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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