Variant report

Variant	nsv1003930
Chromosome Location	chr1:58930444-59157038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2842)
CpG islands
(count:2627)
Chromatin interactive
region (count:255)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:2842 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:59012409-59012715	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:59011611-59011811	K562	blood:	n/a	n/a
3	ARID3A	chr1:58981474-58981836	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:59118379-59118639	K562	blood:	n/a	n/a
5	ARID3A	chr1:58944251-58944303	K562	blood:	n/a	n/a
6	ATF1	chr1:59030296-59030611	K562	blood:	n/a	n/a
7	ATF1	chr1:59014952-59015284	K562	blood:	n/a	n/a
8	ATF1	chr1:59118283-59118567	K562	blood:	n/a	n/a
9	ATF2	chr1:59039260-59040156	GM12878	blood:	n/a	n/a
10	ATF2	chr1:59043688-59044306	GM12878	blood:	n/a	n/a
11	ATF2	chr1:59012223-59012665	GM12878	blood:	n/a	chr1:59012349-59012363
12	ATF2	chr1:59012273-59012759	H1-hESC	embryonic stem cell:	n/a	chr1:59012349-59012363
13	ATF2	chr1:59049821-59050388	GM12878	blood:	n/a	n/a
14	ATF2	chr1:59043504-59044353	GM12878	blood:	n/a	n/a
15	ATF2	chr1:59038872-59039919	GM12878	blood:	n/a	n/a
16	ATF2	chr1:59012221-59012709	GM12878	blood:	n/a	chr1:59012349-59012363
17	ATF3	chr1:59012263-59012689	K562	blood:	n/a	n/a
18	ATF3	chr1:59051175-59051865	HCT-116	colon:	n/a	chr1:59051633-59051646
19	ATF3	chr1:59051174-59052027	HCT-116	colon:	n/a	chr1:59051633-59051646
20	BACH1	chr1:59116073-59116227	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr1:59011804-59012745	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr1:59042524-59043277	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr1:59012481-59012548	K562	blood:	n/a	n/a
24	BATF	chr1:59053072-59053251	GM12878	blood:	n/a	chr1:59053175-59053186
25	BATF	chr1:59039320-59039786	GM12878	blood:	n/a	n/a
26	BATF	chr1:59043748-59044179	GM12878	blood:	n/a	chr1:59043980-59043991
27	BATF	chr1:59043700-59044273	GM12878	blood:	n/a	chr1:59043980-59043991
28	BATF	chr1:59039246-59040046	GM12878	blood:	n/a	n/a
29	BATF	chr1:59049947-59050240	GM12878	blood:	n/a	n/a
30	BATF	chr1:59012280-59012673	GM12878	blood:	n/a	n/a
31	BATF	chr1:58990325-58990539	GM12878	blood:	n/a	n/a
32	BCL11A	chr1:59043741-59044221	GM12878	blood:	n/a	n/a
33	BCL11A	chr1:59049891-59050292	GM12878	blood:	n/a	n/a
34	BCL11A	chr1:59039401-59039788	GM12878	blood:	n/a	n/a
35	BCL11A	chr1:59039307-59039793	GM12878	blood:	n/a	n/a
36	BCL11A	chr1:59043732-59044230	GM12878	blood:	n/a	n/a
37	BCL3	chr1:59043634-59044122	GM12878	blood:	n/a	n/a
38	BCL3	chr1:59039418-59039827	GM12878	blood:	n/a	n/a
39	BCL3	chr1:59039441-59039761	GM12878	blood:	n/a	n/a
40	BCL3	chr1:59043702-59044164	GM12878	blood:	n/a	n/a
41	BCLAF1	chr1:59011686-59012173	GM12878	blood:	n/a	n/a
42	BCLAF1	chr1:59012192-59012763	GM12878	blood:	n/a	chr1:59012434-59012443
43	BCLAF1	chr1:59049668-59050405	GM12878	blood:	n/a	n/a
44	BCLAF1	chr1:59039211-59039850	GM12878	blood:	n/a	n/a
45	BCLAF1	chr1:59043638-59044157	GM12878	blood:	n/a	n/a
46	BCLAF1	chr1:59039236-59039975	GM12878	blood:	n/a	n/a
47	BCLAF1	chr1:59012174-59012853	GM12878	blood:	n/a	chr1:59012434-59012443
48	BHLHE40	chr1:59118212-59118583	K562	blood:	n/a	n/a
49	BHLHE40	chr1:59118179-59118676	GM12878	blood:	n/a	n/a
50	BHLHE40	chr1:59049704-59050254	GM12878	blood:	n/a	n/a

(count:2627 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:59058639-59058689	HEK293	kidney:	embryo
2	chr1:58986684-58986734	HEEpiC	esophagus:	n/a
3	chr1:59039556-59039606	AG09319	gingival:	n/a
4	chr1:59012432-59012482	A549	lung:	n/a
5	chr1:59058639-59058689	HEK293	kidney:	embryo
6	chr1:58986684-58986734	HEEpiC	esophagus:	n/a
7	chr1:59039556-59039606	AG09319	gingival:	n/a
8	chr1:59012432-59012482	A549	lung:	n/a
9	chr1:58954840-58954890	NT2-D1	testis:	n/a
10	chr1:59043208-59043258	SKMC	muscle:	n/a
11	chr1:59043199-59043249	MCF-7	breast:	n/a
12	chr1:59043576-59043626	GM12878	blood:	n/a
13	chr1:59090352-59090402	HRE	kidney:	n/a
14	chr1:59012418-59012468	HepG2	liver:	n/a
15	chr1:59042745-59042795	HUVEC	blood vessel:	n/a
16	chr1:59012576-59012626	SAEC	small airway:	n/a
17	chr1:59042971-59043021	SK-N-SH_RA	brain:	n/a
18	chr1:59043280-59043330	GM12891	blood:	n/a
19	chr1:59046173-59046223	PrEC	prostate:	n/a
20	chr1:59043576-59043626	ECC-1	luminal epithelium:	n/a
21	chr1:59042065-59042115	SAEC	small airway:	n/a
22	chr1:59012418-59012468	NHBE	bronchial:	n/a
23	chr1:59042745-59042795	NB4	blood:	n/a
24	chr1:59012432-59012482	HRCEpiC	kidney:	n/a
25	chr1:59012457-59012507	HCPEpiC	choroid plexus:	n/a
26	chr1:59042065-59042115	AG04449	skin:	fetal
27	chr1:59040648-59040698	Jurkat	blood:	n/a
28	chr1:59043370-59043420	NH-A	brain:	n/a
29	chr1:59012469-59012519	GM06990	blood:	n/a
30	chr1:59012484-59012534	Hepatocyte	liver:	n/a
31	chr1:59043255-59043305	HL-60	blood:	n/a
32	chr1:59042113-59042163	Jurkat	blood:	n/a
33	chr1:59042113-59042163	U87	brain:	n/a
34	chr1:59042745-59042795	Hepatocyte	liver:	n/a
35	chr1:59008471-59008521	PANC-1	pancreas:	n/a
36	chr1:59042971-59043021	BE2_C	brain:	n/a
37	chr1:59012576-59012626	SK-N-SH	brain:	n/a
38	chr1:59008471-59008521	HRE	kidney:	n/a
39	chr1:59011604-59011654	RPTEC	kidney:	n/a
40	chr1:59042275-59042325	HPAEpiC	pulmonary alveolar:	n/a
41	chr1:59042931-59042981	NHDF-neo	bronchial:	n/a
42	chr1:59043255-59043305	SAEC	small airway:	n/a
43	chr1:59012484-59012534	HRCEpiC	kidney:	n/a
44	chr1:59043199-59043249	ProgFib	skin:	n/a
45	chr1:59042971-59043021	ovcar-3	ovarian:	n/a
46	chr1:59085716-59085766	HNPCEpiC	eye:	n/a
47	chr1:59043280-59043330	LNCaP	prostate:	n/a
48	chr1:59042275-59042325	AG04450	lung:	fetal
49	chr1:59008471-59008521	SK-N-SH	brain:	n/a
50	chr1:59089201-59089251	U87	brain:	n/a

(count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr1:59011293..59011877-chr6:30457170..30457896,2	Hela-S3	cervix:
2	chr1:59085711..59087328-chr1:59101267..59102915,2	K562	blood:
3	chr1:59010739..59013825-chr1:59014370..59019048,5	K562	blood:
4	chr1:59010701..59012328-chr1:59112006..59114513,3	MCF-7	breast:
5	chr1:59013352..59015102-chr1:59015166..59016765,2	MCF-7	breast:
6	chr1:59010302..59014215-chr1:59041338..59045361,8	MCF-7	breast:
7	chr1:59035270..59037403-chr1:59084300..59086299,2	MCF-7	breast:
8	chr1:59010739..59013825-chr1:59014370..59019048,5	K562	blood:
9	chr1:59015745..59017645-chr1:59037039..59039268,2	MCF-7	breast:
10	chr1:58981813..58983510-chr1:58984271..58986975,2	K562	blood:
11	chr1:59083668..59085660-chr1:59115397..59118343,2	MCF-7	breast:
12	chr1:58977602..58982967-chr1:59116778..59119321,4	MCF-7	breast:
13	chr1:59058111..59061332-chr1:59083852..59086894,4	MCF-7	breast:
14	chr1:59124310..59126934-chr1:59160369..59163254,2	K562	blood:
15	chr1:59134517..59137998-chr1:59142561..59145087,3	K562	blood:
16	chr1:59149494..59151005-chr1:59152477..59155312,2	MCF-7	breast:
17	chr1:59085880..59088538-chr1:59092105..59094981,3	MCF-7	breast:
18	chr1:59003237..59005403-chr1:59039825..59042747,2	MCF-7	breast:
19	chr1:59049755..59053628-chr1:59060314..59062387,4	MCF-7	breast:
20	chr1:59004925..59008153-chr1:59009746..59011637,3	MCF-7	breast:
21	chr1:59152225..59156137-chr1:59164048..59166851,4	MCF-7	breast:
22	chr1:59009849..59013755-chr1:59040870..59045611,9	MCF-7	breast:
23	chr1:59125952..59132730-chr1:59132819..59139059,8	K562	blood:
24	chr1:58980707..58982320-chr1:58984607..58986505,2	MCF-7	breast:
25	chr1:59013352..59015102-chr1:59015166..59016765,2	MCF-7	breast:
26	chr1:59004943..59009695-chr1:59010232..59015133,7	K562	blood:
27	chr1:58999141..59000957-chr1:59036910..59038987,2	MCF-7	breast:
28	chr1:59098846..59101331-chr1:59111358..59112947,2	MCF-7	breast:
29	chr1:58992969..58995087-chr1:58998392..59001677,3	K562	blood:
30	chr1:58937066..58939253-chr1:58941225..58943551,3	K562	blood:
31	chr1:59134581..59137397-chr1:59243630..59245896,2	K562	blood:
32	chr1:58980770..58981355-chr4:72541611..72542288,2	MCF-7	breast:
33	chr1:59123673..59126344-chr1:59132381..59135089,2	MCF-7	breast:
34	chr1:58981176..58982500-chr1:59117930..59118912,10	K562	blood:
35	chr1:59004925..59008153-chr1:59009746..59011637,3	MCF-7	breast:
36	chr1:58993368..58995087-chr1:58998103..59001309,3	K562	blood:
37	chr1:59059553..59061890-chr1:59075340..59077312,2	MCF-7	breast:
38	chr1:59120107..59122079-chr1:59134962..59137095,2	K562	blood:
39	chr1:59060827..59062882-chr1:59091146..59093686,2	K562	blood:
40	chr1:59107899..59110520-chr1:59111645..59113798,2	K562	blood:
41	chr1:59019484..59022044-chr1:59038523..59040233,2	MCF-7	breast:
42	chr1:3268537..3269041-chr1:59011740..59012292,2	Hela-S3	cervix:
43	chr1:59139724..59142589-chr1:59157997..59159875,2	K562	blood:
44	chr1:59086027..59088074-chr1:59097892..59099677,2	MCF-7	breast:
45	chr1:58977617..58979668-chr1:58980963..58982878,2	K562	blood:
46	chr1:59007888..59009563-chr1:59039964..59042756,2	K562	blood:
47	chr1:59040174..59043721-chr1:59078266..59081081,3	MCF-7	breast:
48	chr1:59011672..59012380-chr11:695499..696327,2	Hela-S3	cervix:
49	chr1:59092199..59094031-chr1:59094976..59096523,2	MCF-7	breast:
50	chr1:59009441..59012454-chr1:59115499..59119409,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-JUN-11	chr1:59142444-59142728	NONHSAT003513
2	lnc-TACSTD2-2	chr1:59121128-59121994	NONHSAT003511
3	lnc-FGGY-12	chr1:59023420-59023565	ucscGeneNc_uc001czf_1
4	lnc-TACSTD2-2	chr1:59134105-59134269	l_62_chr1:59121145-59127505_brain
5	lnc-TACSTD2-2	chr1:59127409-59127505	l_62_chr1:59121145-59127505_brain
6	lnc-TACSTD2-2	chr1:59120412-59124660	NONHSAT003510
7	lnc-MYSM1-1	chr1:59076708-59076948	NONHSAT003508
8	lnc-TACSTD2-2	chr1:59134105-59134269	NONHSAT003512
9	lnc-TACSTD2-3	chr1:58933599-58934677	NONHSAT003505
10	lnc-FGGY-12	chr1:59131805-59131977	ucscGeneNc_uc001czf_1
11	lnc-FGGY-11	chr1:59096517-59096997	NONHSAT003509
12	lnc-MYSM1-1	chr1:59089484-59089514	NONHSAT003508
13	lnc-OMA1-1	chr1:59018585-59019005	NONHSAT003506
14	lnc-TACSTD2-1	chr1:59031301-59031604	NONHSAT003507
15	lnc-FGGY-11	chr1:59095599-59096014	NONHSAT003509
16	lnc-MYSM1-1	chr1:59079357-59079479	NONHSAT003508
17	lnc-TACSTD2-2	chr1:59134807-59134925	NONHSAT003511
18	lnc-TACSTD2-2	chr1:59127409-59127468	NONHSAT003511
19	lnc-TACSTD2-2	chr1:59134910-59134963	NONHSAT003512
20	lnc-JUN-11	chr1:59147457-59147568	NONHSAT003513
21	lnc-TACSTD2-4	chr1:58971732-58971871	NONHSAT003504
22	lnc-FGGY-12	chr1:59134517-59134645	ucscGeneNc_uc001czf_1
23	lnc-TACSTD2-2	chr1:59134105-59134269	NONHSAT003511
24	lnc-TACSTD2-2	chr1:59121146-59121994	l_62_chr1:59121145-59127505_brain
25	lnc-FGGY-12	chr1:59137307-59137854	ucscGeneNc_uc001czf_1
26	lnc-TACSTD2-2	chr1:59134768-59134806	l_62_chr1:59121145-59127505_brain

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	OMA1	hsa-miR-125a-5p	chr1:58946527-58946551
2	OMA1	hsa-miR-10a-5p	chr1:58946526-58946548

Variant related genes	Relation type
RN7SL713P	TF binding region
MYSM1	TF binding region
DAB1	TF binding region
TACSTD2	TF binding region
ENSG00000185839	TF binding region
OMA1	TF binding region
ENSG00000270209	TF binding region
RN7SL713P	CpG island
MYSM1	CpG island
DAB1	CpG island
TACSTD2	CpG island
ENSG00000185839	CpG island
OMA1	CpG island
ENSG00000270209	CpG island
ENSG00000162601	chromatin interactions
ENSG00000198837	chromatin interactions
ENSG00000162600	chromatin interactions
ENSG00000177042	chromatin interactions
ENSG00000122482	chromatin interactions
ENSG00000177030	chromatin interactions
ENSG00000177606	chromatin interactions
ENSG00000184292	chromatin interactions
ENSG00000270209	chromatin interactions
ENSG00000173406	chromatin interactions
ENSG00000170892	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000012174	chromatin interactions
ENSG00000204592	chromatin interactions

Extended variants
information (count: 8563 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:8563 , 50 per page) page: 1 2 3 4 5 6 7 ... 172

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs338251	chr1:58930444-58930445	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540071562	chr1:58930512-58930513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35737057	chr1:58930538-58930539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12082551	chr1:58930542-58930543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150328824	chr1:58930576-58930577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76699335	chr1:58930582-58930583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191244600	chr1:58930613-58930614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537727062	chr1:58930696-58930697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184438632	chr1:58930725-58930726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555982594	chr1:58930740-58930741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572372829	chr1:58930789-58930790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112523428	chr1:58930834-58930835	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558856107	chr1:58930884-58930885	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs697588	chr1:58930948-58930949	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112145670	chr1:58930986-58930987	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114897545	chr1:58931073-58931074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189716978	chr1:58931097-58931098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563133714	chr1:58931126-58931127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529044817	chr1:58931127-58931128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs338250	chr1:58931219-58931220	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559569865	chr1:58931233-58931234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs338249	chr1:58931249-58931250	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551379755	chr1:58931269-58931270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553000449	chr1:58931292-58931293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs338248	chr1:58931305-58931306	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs112314980	chr1:58931338-58931339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143219745	chr1:58931396-58931397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543560336	chr1:58931399-58931400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570161177	chr1:58931417-58931418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185209016	chr1:58931463-58931464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77304718	chr1:58931465-58931466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566350813	chr1:58931500-58931501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573586977	chr1:58931509-58931510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557727010	chr1:58931535-58931536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577756085	chr1:58931537-58931538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537159433	chr1:58931542-58931543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556989179	chr1:58931591-58931592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77663444	chr1:58931686-58931687	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs376189580	chr1:58931691-58931692	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs697589	chr1:58931706-58931707	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559421477	chr1:58931775-58931776	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs338247	chr1:58931857-58931858	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545066295	chr1:58931920-58931921	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs564863007	chr1:58931949-58931950	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs189129594	chr1:58932019-58932020	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs550719487	chr1:58932024-58932025	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs561006343	chr1:58932054-58932055	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs181570117	chr1:58932088-58932089	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs549535931	chr1:58932104-58932105	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs566292170	chr1:58932105-58932106	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:4215 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58899000-58934200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:58906200-58932000	Weak transcription	Ovary	ovary
3	chr1:58914000-58930800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:58918400-58974000	Weak transcription	Spleen	Spleen
5	chr1:58920400-58934000	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:58921200-58932200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:58923200-58932400	Weak transcription	Fetal Heart	heart
8	chr1:58923200-58954200	Weak transcription	Pancreas	Pancrea
9	chr1:58923400-58932400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:58924000-58932400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:58925000-58942400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:58926400-58932400	Weak transcription	Fetal Intestine Small	intestine
13	chr1:58926400-58942800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:58927400-58934000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:58927400-58943200	Weak transcription	Primary B cells from cord blood	blood
16	chr1:58927600-58930800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:58928400-58932600	Strong transcription	Primary T cells from cord blood	blood
18	chr1:58928600-58945800	Weak transcription	Aorta	Aorta
19	chr1:58929000-58954600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:58929200-58932800	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:58929400-58932200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:58929800-58934200	Weak transcription	Lung	lung
23	chr1:58930200-58932200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:58930400-58945800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:58930400-58949400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:58930800-58931000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:58930800-58931000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:58930800-58931000	Enhancers	Gastric	stomach
29	chr1:58930800-58931400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:58930800-58932400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:58930800-58934000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:58931000-58954200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:58931000-58954600	Weak transcription	Fetal Intestine Large	intestine
34	chr1:58931000-58954800	Weak transcription	Gastric	stomach
35	chr1:58931000-58977000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:58931200-58932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:58931200-58934000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:58931200-58952600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr1:58931200-58969400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:58931200-59010800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:58931400-58931800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:58931600-58932200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:58931600-58932600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:58931600-58932600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:58931600-58932600	Enhancers	HMEC	breast
46	chr1:58931600-58932800	Enhancers	NH-A	brain
47	chr1:58931600-58933800	Weak transcription	Liver	Liver
48	chr1:58931600-58974000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:58931800-58932600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr1:58931800-58932600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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