Variant report

Variant	nsv537082
Chromosome Location	chr4:47915527-48052824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2781)
CpG islands
(count:2139)
Chromatin interactive
region (count:50)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2781 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:48044841-48045572	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:47935812-47936158	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:48040697-48041085	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:47916261-47917097	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:47915555-47915809	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:48018132-48018188	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:48034689-48035145	HepG2	liver:	n/a	n/a
8	ARID3A	chr4:47935901-47936162	K562	blood:	n/a	n/a
9	ARID3A	chr4:47928713-47929158	HepG2	liver:	n/a	n/a
10	ATF1	chr4:47916459-47917184	K562	blood:	n/a	n/a
11	ATF2	chr4:48037965-48039344	GM12878	blood:	n/a	n/a
12	ATF2	chr4:48038237-48039382	GM12878	blood:	n/a	n/a
13	ATF2	chr4:48044518-48045592	GM12878	blood:	n/a	n/a
14	ATF2	chr4:47916317-47917157	GM12878	blood:	n/a	n/a
15	ATF2	chr4:48029687-48030248	GM12878	blood:	n/a	n/a
16	ATF2	chr4:48030541-48031481	GM12878	blood:	n/a	n/a
17	ATF2	chr4:48049147-48049934	GM12878	blood:	n/a	n/a
18	ATF2	chr4:48049171-48050094	GM12878	blood:	n/a	n/a
19	ATF2	chr4:48051950-48052330	GM12878	blood:	n/a	n/a
20	ATF2	chr4:48030485-48031348	GM12878	blood:	n/a	n/a
21	ATF2	chr4:48046241-48046996	GM12878	blood:	n/a	n/a
22	ATF2	chr4:48018278-48019455	GM12878	blood:	n/a	chr4:48019284-48019295
23	ATF2	chr4:48029541-48030171	GM12878	blood:	n/a	n/a
24	ATF2	chr4:48048044-48048604	GM12878	blood:	n/a	n/a
25	ATF2	chr4:48044875-48045488	GM12878	blood:	n/a	n/a
26	ATF3	chr4:47916555-47917017	GM12878	blood:	n/a	n/a
27	ATF3	chr4:47916515-47916947	K562	blood:	n/a	n/a
28	ATF3	chr4:47916530-47916847	GM12878	blood:	n/a	n/a
29	BACH1	chr4:47928612-47928966	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr4:48018370-48019458	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr4:47970905-47970974	K562	blood:	n/a	n/a
32	BACH1	chr4:47915971-47917059	H1-hESC	embryonic stem cell:	n/a	n/a
33	BATF	chr4:48029709-48030025	GM12878	blood:	n/a	n/a
34	BATF	chr4:47925212-47925512	GM12878	blood:	n/a	n/a
35	BATF	chr4:48049350-48049759	GM12878	blood:	n/a	n/a
36	BATF	chr4:48038297-48039126	GM12878	blood:	n/a	n/a
37	BATF	chr4:47925267-47925476	GM12878	blood:	n/a	n/a
38	BATF	chr4:48005709-48005916	GM12878	blood:	n/a	n/a
39	BATF	chr4:48044969-48045278	GM12878	blood:	n/a	n/a
40	BATF	chr4:48031145-48031468	GM12878	blood:	n/a	chr4:48031328-48031339
41	BATF	chr4:48043667-48044170	GM12878	blood:	n/a	n/a
42	BATF	chr4:48043709-48044075	GM12878	blood:	n/a	n/a
43	BATF	chr4:48048087-48048455	GM12878	blood:	n/a	n/a
44	BATF	chr4:48029739-48030044	GM12878	blood:	n/a	n/a
45	BATF	chr4:48038389-48038796	GM12878	blood:	n/a	n/a
46	BATF	chr4:48030707-48031086	GM12878	blood:	n/a	n/a
47	BATF	chr4:48049256-48050339	GM12878	blood:	n/a	chr4:48049901-48049910
48	BCL11A	chr4:48030703-48031056	GM12878	blood:	n/a	n/a
49	BCL11A	chr4:47925083-47925532	GM12878	blood:	n/a	n/a
50	BCL11A	chr4:48038779-48039111	GM12878	blood:	n/a	n/a

(count:2139 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:47956011-47956061	NHBE	bronchial:	n/a
2	chr4:48018695-48018745	CMK	blood:	n/a
3	chr4:48022241-48022291	Hepatocyte	liver:	n/a
4	chr4:47916863-47916913	HEK293	kidney:	embryo
5	chr4:47956011-47956061	NHBE	bronchial:	n/a
6	chr4:48018695-48018745	CMK	blood:	n/a
7	chr4:48022241-48022291	Hepatocyte	liver:	n/a
8	chr4:47916863-47916913	HEK293	kidney:	embryo
9	chr4:47955755-47955805	AG09309	skin:	n/a
10	chr4:47938433-47938483	NHBE	bronchial:	n/a
11	chr4:47938433-47938483	HCPEpiC	choroid plexus:	n/a
12	chr4:47944534-47944584	HCPEpiC	choroid plexus:	n/a
13	chr4:48018695-48018745	NT2-D1	testis:	n/a
14	chr4:47916498-47916548	HNPCEpiC	eye:	n/a
15	chr4:47955755-47955805	NHDF-neo	bronchial:	n/a
16	chr4:48018582-48018632	AoSMC	blood vessel:	n/a
17	chr4:47916640-47916690	NT2-D1	testis:	n/a
18	chr4:47916050-47916100	ProgFib	skin:	n/a
19	chr4:47915995-47916045	HCPEpiC	choroid plexus:	n/a
20	chr4:48018954-48019004	SK-N-SH_RA	brain:	n/a
21	chr4:47916863-47916913	HPAEpiC	pulmonary alveolar:	n/a
22	chr4:47916498-47916548	PrEC	prostate:	n/a
23	chr4:47956011-47956061	GM12878	blood:	n/a
24	chr4:47916056-47916106	IMR90	lung:	fetal
25	chr4:47915701-47915751	ovcar-3	ovarian:	n/a
26	chr4:47917042-47917092	NB4	blood:	n/a
27	chr4:47984394-47984444	BJ	skin:	n/a
28	chr4:47984394-47984444	AG04450	lung:	fetal
29	chr4:47916636-47916686	PANC-1	pancreas:	n/a
30	chr4:47916759-47916809	AG04449	skin:	fetal
31	chr4:47983620-47983670	HAEpiC	amniotic membrane:	n/a
32	chr4:47915995-47916045	HRE	kidney:	n/a
33	chr4:47983620-47983670	NT2-D1	testis:	n/a
34	chr4:47984394-47984444	PFSK-1	brain:	n/a
35	chr4:48022241-48022291	HEK293	kidney:	embryo
36	chr4:47956011-47956061	AG04449	skin:	fetal
37	chr4:48022241-48022291	BE2_C	brain:	n/a
38	chr4:47983620-47983670	GM12878	blood:	n/a
39	chr4:47984394-47984444	H1-hESC	embryonic stem cell:	embryo
40	chr4:47916759-47916809	AG09319	gingival:	n/a
41	chr4:47916050-47916100	SK-N-MC	brain:	n/a
42	chr4:47917094-47917144	AG10803	skin:	n/a
43	chr4:48045040-48045090	RPTEC	kidney:	n/a
44	chr4:47984394-47984444	AG10803	skin:	n/a
45	chr4:47916640-47916690	GM12891	blood:	n/a
46	chr4:48015490-48015540	CMK	blood:	n/a
47	chr4:47917094-47917144	GM19239	blood:	n/a
48	chr4:48018695-48018745	BE2_C	brain:	n/a
49	chr4:48018263-48018313	SK-N-SH	brain:	n/a
50	chr4:47916193-47916243	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:47942692..47945370-chr4:47945557..47947675,2	K562	blood:
2	chr4:48040732..48041255-chr4:48049418..48050146,2	MCF-7	breast:
3	chr4:48016518..48018197-chr4:48024501..48026849,2	K562	blood:
4	chr4:48021540..48023440-chr4:48027193..48032829,5	MCF-7	breast:
5	chr4:47945827..47947880-chr4:47948710..47950331,2	K562	blood:
6	chr4:48017249..48021049-chr4:48030612..48033189,3	MCF-7	breast:
7	chr4:47914296..47917191-chr4:48017364..48021197,5	MCF-7	breast:
8	chr4:48040732..48041255-chr4:48049418..48050146,2	MCF-7	breast:
9	chr4:48021540..48023440-chr4:48027193..48032829,5	MCF-7	breast:
10	chr4:47688037..47688961-chr4:47935651..47936484,4	K562	blood:
11	chr4:47931421..47933962-chr4:48023489..48026018,2	MCF-7	breast:
12	chr4:48035782..48036490-chr4:48089033..48089753,2	MCF-7	breast:
13	chr4:47915649..47917988-chr4:47930284..47933272,2	MCF-7	breast:
14	chr4:48015687..48018286-chr4:48032689..48034980,2	K562	blood:
15	chr4:47916070..47916645-chr6:32939554..32940093,2	Hela-S3	cervix:
16	chr4:47915045..47916605-chr4:48017433..48018940,2	MCF-7	breast:
17	chr4:47938694..47941174-chr4:47942681..47944812,2	K562	blood:
18	chr4:48016518..48018197-chr4:48024501..48026849,2	K562	blood:
19	chr4:48043679..48046228-chr4:48047228..48049577,2	MCF-7	breast:
20	chr4:47913034..47916657-chr4:47929562..47933478,3	K562	blood:
21	chr4:47928537..47929256-chr4:48142747..48143293,3	K562	blood:
22	chr4:48043679..48046228-chr4:48047228..48049577,2	MCF-7	breast:
23	chr4:48024660..48026222-chr4:48100298..48102831,2	K562	blood:
24	chr4:48035341..48036908-chr4:48088867..48089881,5	MCF-7	breast:
25	chr4:48015687..48018286-chr4:48032689..48034980,2	K562	blood:
26	chr4:47688611..47689443-chr4:47936530..47937494,2	K562	blood:
27	chr4:48018226..48018849-chr5:157285675..157286547,2	HCT-116	colon:
28	chr4:48029512..48031453-chr4:48088999..48090541,2	K562	blood:
29	chr4:47935498..47936416-chr4:48089283..48089860,2	MCF-7	breast:
30	chr4:48019190..48021605-chr4:48023120..48025588,2	K562	blood:
31	chr4:47942692..47945370-chr4:47945557..47947675,2	K562	blood:
32	chr4:47950304..47952978-chr4:47956246..47958619,2	MCF-7	breast:
33	chr4:47950304..47952978-chr4:47956246..47958619,2	MCF-7	breast:
34	chr4:47931421..47933962-chr4:48023489..48026018,2	MCF-7	breast:
35	chr4:47938694..47941174-chr4:47942681..47944812,2	K562	blood:
36	chr4:47914296..47917191-chr4:48017364..48021197,5	MCF-7	breast:
37	chr4:47914012..47917930-chr4:47928517..47931716,3	K562	blood:
38	chr4:48018543..48020121-chr4:48043793..48046506,2	MCF-7	breast:
39	chr4:48019190..48021605-chr4:48023120..48025588,2	K562	blood:
40	chr4:48040732..48041262-chr4:48049418..48050146,3	MCF-7	breast:
41	chr4:47928762..47929479-chr4:48111477..48112069,2	MCF-7	breast:
42	chr4:47915045..47916605-chr4:48017433..48018940,2	MCF-7	breast:
43	chr4:47945827..47947880-chr4:47948710..47950331,2	K562	blood:
44	chr4:48017908..48020404-chr4:48035572..48037136,2	MCF-7	breast:
45	chr16:71842665..71843234-chr4:47915439..47916090,2	Hela-S3	cervix:
46	chr4:47928329..47929479-chr4:48088621..48089783,3	K562	blood:
47	chr4:48019513..48022096-chr4:48074921..48077158,2	MCF-7	breast:
48	chr4:48034068..48036913-chr4:48142592..48144853,2	MCF-7	breast:
49	chr4:48018009..48020666-chr4:48022242..48023763,2	K562	blood:
50	chr4:48040732..48041262-chr4:48049418..48050146,3	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NIPAL1-1	chr4:47916244-47916721	NONHSAT096274
2	lnc-NIPAL1-1	chr4:48027085-48027211	NONHSAT096273
3	lnc-NIPAL1-1	chr4:47915823-47916721	NONHSAT096272
4	lnc-NIPAL1-1	chr4:47916159-47916721	NONHSAT096273
5	lnc-NIPAL1-1	chr4:47991683-47992754	NONHSAT096275
6	lnc-NIPAL1-1	chr4:47961041-47961158	NONHSAT096274
7	lnc-NIPAL1-1	chr4:47961041-47961156	NONHSAT096275
8	lnc-NIPAL1-1	chr4:47928758-47929158	NONHSAT096272
9	lnc-NIPAL1-1	chr4:47916244-47916721	NONHSAT096275

No data

Variant related genes	Relation type
NFXL1	TF binding region
ENSG00000221764	TF binding region
NIPAL1	TF binding region
CNGA1	TF binding region
NFXL1	CpG island
ENSG00000221764	CpG island
NIPAL1	CpG island
CNGA1	CpG island
ENSG00000198515	chromatin interactions
ENSG00000135605	chromatin interactions
ENSG00000113282	chromatin interactions
ENSG00000163293	chromatin interactions
ENSG00000170448	chromatin interactions
ENSG00000166747	chromatin interactions
ENSG00000204256	chromatin interactions

Extended variants
information (count: 3866 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:3866 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115391822	chr4:47915549-47915550	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs531811324	chr4:47915564-47915565	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs188096025	chr4:47915566-47915567	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs535628276	chr4:47915645-47915646	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs568205753	chr4:47915667-47915668	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs149230169	chr4:47915675-47915676	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs192702736	chr4:47915695-47915696	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs60195275	chr4:47915706-47915707	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539776195	chr4:47915726-47915727	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs374540440	chr4:47915734-47915735	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs553976306	chr4:47915736-47915737	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs557711702	chr4:47915748-47915749	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs62298271	chr4:47915753-47915754	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs6845364	chr4:47915772-47915773	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs61748924	chr4:47915879-47915880	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs537142411	chr4:47915885-47915886	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs143388104	chr4:47915972-47915973	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs574648180	chr4:47915996-47915997	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs542043125	chr4:47916009-47916010	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs373349220	chr4:47916026-47916027	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs34210300	chr4:47916032-47916033	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs143812752	chr4:47916040-47916041	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs146857504	chr4:47916047-47916048	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs546117120	chr4:47916054-47916055	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs35838345	chr4:47916063-47916064	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs564504046	chr4:47916088-47916089	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
27	rs531616884	chr4:47916102-47916103	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs572577030	chr4:47916136-47916137	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs550201087	chr4:47916138-47916139	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs530127250	chr4:47916158-47916159	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs183431963	chr4:47916188-47916189	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs529064297	chr4:47916210-47916211	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs372266087	chr4:47916214-47916215	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs77518238	chr4:47916233-47916234	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs71614013	chr4:47916257-47916258	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs565906645	chr4:47916287-47916288	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs188317784	chr4:47916289-47916290	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs371012122	chr4:47916309-47916310	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs546234579	chr4:47916316-47916317	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs78090669	chr4:47916326-47916327	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs536647219	chr4:47916331-47916332	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs368532340	chr4:47916339-47916340	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs6826122	chr4:47916346-47916347	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567040650	chr4:47916387-47916388	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs148360415	chr4:47916413-47916414	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs543885911	chr4:47916440-47916441	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs192274437	chr4:47916462-47916463	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs142124073	chr4:47916463-47916464	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs546434902	chr4:47916478-47916479	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs558169311	chr4:47916502-47916503	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1750 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47876800-47915800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:47899600-47915600	Weak transcription	Lung	lung
3	chr4:47906800-47915600	Weak transcription	Left Ventricle	heart
4	chr4:47911200-47915600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:47913400-47917200	Active TSS	Muscle Satellite Cultured Cells	--
6	chr4:47914200-47917400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:47914400-47917000	Active TSS	GM12878-XiMat	blood
8	chr4:47914400-47917400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:47914400-47917600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr4:47914400-47917600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:47914600-47915600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr4:47915000-47915600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr4:47915000-47915600	Flanking Active TSS	NHEK	skin
14	chr4:47915000-47916000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:47915000-47916000	Flanking Active TSS	Dnd41	blood
16	chr4:47915000-47916000	Flanking Active TSS	HUVEC	blood vessel
17	chr4:47915000-47916000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr4:47915000-47916800	Active TSS	NHLF	lung
19	chr4:47915000-47917200	Active TSS	HMEC	breast
20	chr4:47915000-47917400	Active TSS	H1 Cell Line	embryonic stem cell
21	chr4:47915000-47917400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr4:47915000-47917400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr4:47915000-47917600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr4:47915200-47915600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr4:47915200-47915600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr4:47915200-47915600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:47915200-47915600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr4:47915200-47915600	Enhancers	Primary B cells from cord blood	blood
29	chr4:47915200-47915600	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:47915200-47915600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr4:47915200-47915600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:47915200-47915600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:47915200-47915600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:47915200-47915600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:47915200-47915600	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr4:47915200-47915600	Flanking Active TSS	Fetal Brain Female	brain
37	chr4:47915200-47915600	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr4:47915200-47915600	Flanking Active TSS	Placenta	Placenta
39	chr4:47915200-47915600	Flanking Active TSS	Ovary	ovary
40	chr4:47915200-47915600	Flanking Active TSS	Stomach Mucosa	stomach
41	chr4:47915200-47915600	Flanking Active TSS	A549	lung
42	chr4:47915200-47915600	Flanking Active TSS	K562	blood
43	chr4:47915200-47915600	Flanking Active TSS	NHDF-Ad	bronchial
44	chr4:47915200-47915600	Flanking Active TSS	Osteobl	bone
45	chr4:47915200-47915800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:47915200-47915800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:47915200-47915800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr4:47915200-47915800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:47915200-47915800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr4:47915200-47915800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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