Variant report

Variant	nsv466069
Chromosome Location	chr9:2018825-2066493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:634)
CpG islands
(count:488)
Chromatin interactive
region (count:35)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:634 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:2022275-2022865	K562	blood:	n/a	n/a
2	ATF1	chr9:2023624-2023993	K562	blood:	n/a	n/a
3	ATF2	chr9:2055011-2055808	GM12878	blood:	n/a	n/a
4	ATF2	chr9:2053653-2054478	GM12878	blood:	n/a	n/a
5	ATF2	chr9:2054946-2055805	GM12878	blood:	n/a	n/a
6	ATF2	chr9:2053700-2054321	GM12878	blood:	n/a	n/a
7	ATF2	chr9:2043068-2043725	GM12878	blood:	n/a	n/a
8	ATF2	chr9:2043092-2043667	GM12878	blood:	n/a	n/a
9	BATF	chr9:2043195-2043566	GM12878	blood:	n/a	n/a
10	BATF	chr9:2053830-2054274	GM12878	blood:	n/a	n/a
11	BATF	chr9:2055036-2055733	GM12878	blood:	n/a	chr9:2055534-2055544
12	BATF	chr9:2043270-2043543	GM12878	blood:	n/a	n/a
13	BATF	chr9:2055078-2055684	GM12878	blood:	n/a	chr9:2055534-2055544
14	BATF	chr9:2066304-2066596	GM12878	blood:	n/a	n/a
15	BCL11A	chr9:2055123-2055702	GM12878	blood:	n/a	n/a
16	BCL11A	chr9:2018869-2019105	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL11A	chr9:2053866-2054307	GM12878	blood:	n/a	n/a
18	BCL11A	chr9:2053878-2054277	GM12878	blood:	n/a	n/a
19	BCL11A	chr9:2059398-2059873	GM12878	blood:	n/a	n/a
20	BCL11A	chr9:2055057-2055743	GM12878	blood:	n/a	n/a
21	BCL3	chr9:2055084-2055684	GM12878	blood:	n/a	n/a
22	BCL3	chr9:2053747-2054301	GM12878	blood:	n/a	n/a
23	BCLAF1	chr9:2043986-2044753	GM12878	blood:	n/a	n/a
24	BCLAF1	chr9:2053364-2054381	GM12878	blood:	n/a	n/a
25	BCLAF1	chr9:2053773-2054316	GM12878	blood:	n/a	n/a
26	BCLAF1	chr9:2043238-2043879	GM12878	blood:	n/a	chr9:2043484-2043493
27	BCLAF1	chr9:2055206-2055756	GM12878	blood:	n/a	n/a
28	BHLHE40	chr9:2053738-2054542	GM12878	blood:	n/a	n/a
29	BHLHE40	chr9:2025363-2025506	GM12878	blood:	n/a	n/a
30	BRCA1	chr9:2026782-2026792	H1-hESC	embryonic stem cell:	n/a	n/a
31	CCNT2	chr9:2023568-2024014	K562	blood:	n/a	n/a
32	CEBPB	chr9:2032241-2032421	IMR90	lung:	n/a	chr9:2032242-2032253 chr9:2032242-2032253
33	CEBPB	chr9:2017492-2019116	Hela-S3	cervix:	n/a	chr9:2018337-2018350 chr9:2018337-2018348
34	CEBPB	chr9:2055286-2055624	IMR90	lung:	n/a	n/a
35	CEBPB	chr9:2054991-2055898	GM12878	blood:	n/a	n/a
36	CEBPB	chr9:2053906-2054237	GM12878	blood:	n/a	n/a
37	CEBPB	chr9:2051511-2051590	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr9:2032166-2032576	K562	blood:	n/a	chr9:2032242-2032253 chr9:2032242-2032253
39	CEBPB	chr9:2025509-2025819	HepG2	liver:	n/a	n/a
40	CHD1	chr9:2023562-2023891	GM12878	blood:	n/a	n/a
41	CHD1	chr9:2014303-2019408	GM12878	blood:	n/a	chr9:2016689-2016699 chr9:2015110-2015120
42	CHD1	chr9:2022088-2022288	GM12878	blood:	n/a	n/a
43	CHD2	chr9:2019102-2019281	GM12878	blood:	n/a	n/a
44	CHD2	chr9:2024864-2024867	GM12878	blood:	n/a	n/a
45	CHD2	chr9:2025357-2025540	GM12878	blood:	n/a	n/a
46	CHD2	chr9:2053800-2054488	GM12878	blood:	n/a	n/a
47	CREB1	chr9:2053767-2054383	GM12878	blood:	n/a	n/a
48	CREB1	chr9:2053718-2054421	GM12878	blood:	n/a	n/a
49	CTCF	chr9:2053220-2053370	AG09309	skin:	n/a	n/a
50	CTCF	chr9:2044480-2044630	AG09309	skin:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:2047160-2047210	AG04450	lung:	fetal
2	chr9:2047800-2047850	RPTEC	kidney:	n/a
3	chr9:2022036-2022086	Hela-S3	cervix:	n/a
4	chr9:2047595-2047645	IMR90	lung:	fetal
5	chr9:2050899-2050949	SKMC	muscle:	n/a
6	chr9:2024387-2024437	HCT-116	colon:	n/a
7	chr9:2044055-2044105	MCF-7	breast:	n/a
8	chr9:2024387-2024437	GM06990	blood:	n/a
9	chr9:2047373-2047423	BJ	skin:	n/a
10	chr9:2022036-2022086	HAEpiC	amniotic membrane:	n/a
11	chr9:2050899-2050949	ECC-1	luminal epithelium:	n/a
12	chr9:2024387-2024437	GM12891	blood:	n/a
13	chr9:2047800-2047850	AG04449	skin:	fetal
14	chr9:2047373-2047423	ECC-1	luminal epithelium:	n/a
15	chr9:2047800-2047850	PFSK-1	brain:	n/a
16	chr9:2022036-2022086	HCPEpiC	choroid plexus:	n/a
17	chr9:2050899-2050949	AG10803	skin:	n/a
18	chr9:2047373-2047423	HCF	heart:	n/a
19	chr9:2044055-2044105	NHBE	bronchial:	n/a
20	chr9:2022036-2022086	HepG2	liver:	n/a
21	chr9:2047800-2047850	Hela-S3	cervix:	n/a
22	chr9:2047160-2047210	SK-N-SH	brain:	n/a
23	chr9:2047800-2047850	H1-hESC	embryonic stem cell:	embryo
24	chr9:2050899-2050949	HL-60	blood:	n/a
25	chr9:2022036-2022086	Hepatocyte	liver:	n/a
26	chr9:2047800-2047850	HEEpiC	esophagus:	n/a
27	chr9:2047595-2047645	LNCaP	prostate:	n/a
28	chr9:2047160-2047210	AG09309	skin:	n/a
29	chr9:2047160-2047210	CMK	blood:	n/a
30	chr9:2022036-2022086	AG04450	lung:	fetal
31	chr9:2050899-2050949	SK-N-SH_RA	brain:	n/a
32	chr9:2047800-2047850	ovcar-3	ovarian:	n/a
33	chr9:2024387-2024437	Hepatocyte	liver:	n/a
34	chr9:2044055-2044105	BJ	skin:	n/a
35	chr9:2022036-2022086	SAEC	small airway:	n/a
36	chr9:2022036-2022086	AG09309	skin:	n/a
37	chr9:2022036-2022086	HPAEpiC	pulmonary alveolar:	n/a
38	chr9:2047800-2047850	PANC-1	pancreas:	n/a
39	chr9:2044055-2044105	A549	lung:	n/a
40	chr9:2044055-2044105	HL-60	blood:	n/a
41	chr9:2047595-2047645	PFSK-1	brain:	n/a
42	chr9:2022036-2022086	NHBE	bronchial:	n/a
43	chr9:2050899-2050949	AG04450	lung:	fetal
44	chr9:2047800-2047850	HAEpiC	amniotic membrane:	n/a
45	chr9:2047595-2047645	BJ	skin:	n/a
46	chr9:2047160-2047210	HNPCEpiC	eye:	n/a
47	chr9:2044055-2044105	HepG2	liver:	n/a
48	chr9:2024387-2024437	HEK293	kidney:	embryo
49	chr9:2047595-2047645	GM12891	blood:	n/a
50	chr9:2047800-2047850	HCF	heart:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2012580..2014743-chr9:2038420..2041072,2	K562	blood:
2	chr9:2025406..2027101-chr9:2041465..2044182,2	K562	blood:
3	chr9:2013479..2017608-chr9:2017826..2022083,7	MCF-7	breast:
4	chr9:2027542..2030484-chr9:2031269..2033941,3	K562	blood:
5	chr9:2035867..2037863-chr9:2040595..2043579,2	MCF-7	breast:
6	chr9:2025445..2029095-chr9:2029321..2031633,5	K562	blood:
7	chr9:2016219..2019918-chr9:2022215..2026324,5	MCF-7	breast:
8	chr9:2018308..2020609-chr9:2085608..2087272,2	K562	blood:
9	chr9:2027542..2030484-chr9:2031269..2033941,3	K562	blood:
10	chr9:2019923..2022306-chr9:2028801..2031582,2	K562	blood:
11	chr9:2025406..2027101-chr9:2041465..2044182,2	K562	blood:
12	chr9:2031596..2033809-chr9:2036447..2038109,2	MCF-7	breast:
13	chr9:2016568..2019114-chr9:2030660..2033552,2	MCF-7	breast:
14	chr9:2019923..2022306-chr9:2028801..2031582,2	K562	blood:
15	chr9:2038457..2040329-chr9:2040850..2042831,2	K562	blood:
16	chr9:2014709..2017122-chr9:2062966..2067398,3	MCF-7	breast:
17	chr9:2014683..2019202-chr9:2026620..2030174,6	MCF-7	breast:
18	chr9:2035810..2037705-chr9:2044015..2046964,2	K562	blood:
19	chr9:2014683..2019202-chr9:2026620..2030174,6	MCF-7	breast:
20	chr9:2015290..2017230-chr9:2035454..2037354,2	MCF-7	breast:
21	chr9:2038457..2040329-chr9:2040850..2042831,2	K562	blood:
22	chr9:2027773..2030143-chr9:2034628..2037514,2	K562	blood:
23	chr9:2019942..2022254-chr9:2022481..2024574,2	MCF-7	breast:
24	chr9:2014062..2016473-chr9:2041837..2045472,3	MCF-7	breast:
25	chr9:2015277..2016837-chr9:2046158..2048018,2	K562	blood:
26	chr9:2061237..2063006-chr9:2063719..2066539,2	K562	blood:
27	chr9:2061237..2063006-chr9:2063719..2066539,2	K562	blood:
28	chr9:2017363..2019516-chr9:2029024..2032521,3	K562	blood:
29	chr9:2035867..2037863-chr9:2040595..2043579,2	MCF-7	breast:
30	chr9:2014489..2016511-chr9:2066212..2068333,2	MCF-7	breast:
31	chr9:2015330..2018297-chr9:2035684..2039047,3	MCF-7	breast:
32	chr9:2016166..2018399-chr9:2051368..2053339,2	MCF-7	breast:
33	chr9:2016568..2019114-chr9:2030660..2033552,2	MCF-7	breast:
34	chr9:2015057..2017007-chr9:2029405..2032085,2	K562	blood:
35	chr9:2030993..2033791-chr9:2034490..2037168,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VLDLR-4	chr9:2042994-2046019	NONHSAT129986
2	lnc-KIAA0020-2	chr9:2045835-2046023	ENSG00000236199.1
3	lnc-KIAA0020-2	chr9:2041900-2042130	ENSG00000236199.1

No data

Variant related genes	Relation type
ENSG00000236199	TF binding region
SMARCA2	TF binding region
ENSG00000236199	CpG island
SMARCA2	CpG island
ENSG00000236199	chromatin interactions
ENSG00000080503	chromatin interactions

Extended variants
information (count: 2187 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:2187 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10964427	chr9:2018825-2018826	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141818115	chr9:2018847-2018848	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs72687569	chr9:2018876-2018877	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533741262	chr9:2018880-2018881	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs186274891	chr9:2018884-2018885	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs573441481	chr9:2018930-2018931	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535828719	chr9:2018946-2018947	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555713300	chr9:2018959-2018960	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs72687570	chr9:2018965-2018966	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs112986821	chr9:2018968-2018969	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565575891	chr9:2018972-2018973	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555512253	chr9:2019031-2019032	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs535639077	chr9:2019038-2019039	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572552744	chr9:2019061-2019062	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs541688733	chr9:2019099-2019100	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561354385	chr9:2019125-2019126	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200297183	chr9:2019136-2019137	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs530247902	chr9:2019140-2019141	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs550317823	chr9:2019162-2019163	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189426613	chr9:2019246-2019247	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs563499347	chr9:2019267-2019268	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs532544369	chr9:2019274-2019275	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs551339289	chr9:2019287-2019288	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs73377052	chr9:2019392-2019393	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs533727815	chr9:2019417-2019418	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs547222773	chr9:2019450-2019451	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs567147141	chr9:2019467-2019468	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs535910633	chr9:2019492-2019493	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs373992037	chr9:2019496-2019497	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs533843367	chr9:2019497-2019498	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs74337308	chr9:2019498-2019499	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs60327404	chr9:2019513-2019514	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs57704949	chr9:2019514-2019515	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs556232851	chr9:2019571-2019572	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs575901568	chr9:2019583-2019584	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551830019	chr9:2019594-2019595	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185903557	chr9:2019613-2019614	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558979960	chr9:2019660-2019661	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73377053	chr9:2019713-2019714	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190870906	chr9:2019716-2019717	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183137438	chr9:2019743-2019744	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530944523	chr9:2019758-2019759	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs575100574	chr9:2019836-2019837	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs12339704	chr9:2019837-2019838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs543893481	chr9:2019843-2019844	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs563804221	chr9:2019845-2019846	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs35401504	chr9:2019893-2019894	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs143362737	chr9:2019932-2019933	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs185406848	chr9:2019955-2019956	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs565017110	chr9:2019958-2019959	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Peripheral t-cell lymphoma	19118030	CNVD

Chromatin state (count:2178 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2014000-2019200	Active TSS	Aorta	Aorta
2	chr9:2014000-2019200	Active TSS	Ovary	ovary
3	chr9:2014000-2019600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr9:2014000-2020000	Active TSS	Right Atrium	heart
5	chr9:2014200-2019200	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr9:2014200-2021400	Active TSS	GM12878-XiMat	blood
7	chr9:2014400-2019400	Active TSS	Fetal Muscle Trunk	muscle
8	chr9:2014600-2019000	Active TSS	Lung	lung
9	chr9:2014600-2019400	Active TSS	Placenta	Placenta
10	chr9:2016000-2019200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr9:2016400-2019000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr9:2017800-2019200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
13	chr9:2017800-2019600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr9:2017800-2019800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr9:2018000-2019000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
16	chr9:2018000-2019200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr9:2018000-2019200	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr9:2018000-2019600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr9:2018000-2019600	Flanking Active TSS	Fetal Brain Male	brain
20	chr9:2018000-2020800	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr9:2018000-2028200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:2018200-2019000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr9:2018200-2019000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr9:2018200-2019000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:2018200-2019000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
26	chr9:2018200-2019000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr9:2018200-2019000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr9:2018200-2019000	Flanking Active TSS	HSMM	muscle
29	chr9:2018200-2019000	Flanking Active TSS	HUVEC	blood vessel
30	chr9:2018200-2019000	Flanking Active TSS	Osteobl	bone
31	chr9:2018200-2019200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr9:2018200-2019200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr9:2018200-2019400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
34	chr9:2018200-2019400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr9:2018200-2019400	Flanking Active TSS	Liver	Liver
36	chr9:2018200-2019400	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr9:2018200-2019400	Flanking Active TSS	Fetal Lung	lung
38	chr9:2018200-2019400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr9:2018200-2019400	Flanking Active TSS	Hela-S3	cervix
40	chr9:2018200-2019600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr9:2018200-2019600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:2018200-2019600	Flanking Active TSS	Dnd41	blood
43	chr9:2018200-2019600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr9:2018200-2019800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:2018200-2020200	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr9:2018200-2023200	Weak transcription	Spleen	Spleen
47	chr9:2018200-2033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:2018400-2019000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr9:2018400-2019000	Active TSS	Brain Cingulate Gyrus	brain
50	chr9:2018400-2019000	Flanking Active TSS	Stomach Mucosa	stomach

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