Variant report

Variant	esv3421759
Chromosome Location	chr4:87855153-87857701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1039)
CpG islands
(count:856)
Chromatin interactive
region (count:16)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:87856980-87857924	K562	blood:	n/a	n/a
2	ARID3A	chr4:87855400-87855659	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:87856997-87857844	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:87855861-87856442	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:87854949-87856353	K562	blood:	n/a	n/a
6	ATF1	chr4:87855236-87856071	K562	blood:	n/a	n/a
7	ATF2	chr4:87857290-87857747	GM12878	blood:	n/a	n/a
8	ATF2	chr4:87856132-87856395	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr4:87856619-87857482	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr4:87855462-87855977	GM12878	blood:	n/a	n/a
11	ATF2	chr4:87856925-87857755	GM12878	blood:	n/a	n/a
12	ATF3	chr4:87855783-87856298	K562	blood:	n/a	chr4:87856095-87856104 chr4:87856046-87856055
13	ATF3	chr4:87857116-87857754	K562	blood:	n/a	n/a
14	BACH1	chr4:87857237-87857640	K562	blood:	n/a	chr4:87857421-87857435
15	BACH1	chr4:87855742-87856572	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:87857014-87857889	H1-hESC	embryonic stem cell:	n/a	chr4:87857421-87857435
17	BATF	chr4:87856994-87857773	GM12878	blood:	n/a	chr4:87857425-87857435
18	BCL3	chr4:87857087-87857750	A549	lung:	n/a	n/a
19	BCL3	chr4:87855755-87856325	GM12878	blood:	n/a	n/a
20	BCL3	chr4:87857105-87857566	A549	lung:	n/a	n/a
21	BCLAF1	chr4:87857029-87857919	GM12878	blood:	n/a	n/a
22	BCLAF1	chr4:87855729-87856412	GM12878	blood:	n/a	n/a
23	BCLAF1	chr4:87857261-87857980	GM12878	blood:	n/a	n/a
24	BCLAF1	chr4:87855722-87856497	GM12878	blood:	n/a	n/a
25	BHLHE40	chr4:87855861-87856378	HepG2	liver:	n/a	chr4:87856047-87856063
26	BHLHE40	chr4:87855571-87857993	K562	blood:	n/a	chr4:87856047-87856063
27	BHLHE40	chr4:87855765-87856443	GM12878	blood:	n/a	chr4:87856047-87856063
28	BHLHE40	chr4:87856663-87857858	HepG2	liver:	n/a	n/a
29	BHLHE40	chr4:87856926-87858130	GM12878	blood:	n/a	n/a
30	BRCA1	chr4:87856332-87856532	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr4:87855327-87855947	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr4:87855592-87856167	K562	blood:	n/a	n/a
33	CBX3	chr4:87856993-87857925	K562	blood:	n/a	n/a
34	CBX3	chr4:87856764-87857762	HCT-116	colon:	n/a	n/a
35	CCNT2	chr4:87855783-87857557	K562	blood:	n/a	chr4:87856416-87856425 chr4:87856089-87856098 chr4:87856095-87856104
36	CCNT2	chr4:87855325-87855378	K562	blood:	n/a	n/a
37	CEBPB	chr4:87856522-87856939	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPB	chr4:87855371-87855386	A549	lung:	n/a	n/a
39	CEBPB	chr4:87856464-87857223	MCF-7	breast:	n/a	n/a
40	CEBPB	chr4:87855871-87857807	HepG2	liver:	n/a	n/a
41	CEBPB	chr4:87856532-87857737	K562	blood:	n/a	n/a
42	CEBPB	chr4:87856583-87856940	HepG2	liver:	n/a	n/a
43	CEBPB	chr4:87855703-87857792	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr4:87856642-87856845	HepG2	liver:	n/a	n/a
45	CEBPB	chr4:87856566-87857774	HepG2	liver:	n/a	n/a
46	CEBPB	chr4:87856575-87856895	K562	blood:	n/a	n/a
47	CEBPB	chr4:87857331-87857816	MCF-7	breast:	n/a	n/a
48	CEBPB	chr4:87856184-87857723	IMR90	lung:	n/a	n/a
49	CEBPB	chr4:87856497-87857305	ECC-1	luminal epithelium:	n/a	n/a
50	CEBPB	chr4:87856552-87856949	H1-hESC	embryonic stem cell:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:87856849-87856899	SK-N-SH_RA	brain:	n/a
2	chr4:87855874-87855924	LNCaP	prostate:	n/a
3	chr4:87856849-87856899	SK-N-SH_RA	brain:	n/a
4	chr4:87855874-87855924	LNCaP	prostate:	n/a
5	chr4:87855982-87856032	GM06990	blood:	n/a
6	chr4:87855377-87855427	SKMC	muscle:	n/a
7	chr4:87857413-87857463	A549	lung:	n/a
8	chr4:87856428-87856478	ovcar-3	ovarian:	n/a
9	chr4:87855972-87856022	AoSMC	blood vessel:	n/a
10	chr4:87857031-87857081	Jurkat	blood:	n/a
11	chr4:87857418-87857468	PFSK-1	brain:	n/a
12	chr4:87855982-87856032	NH-A	brain:	n/a
13	chr4:87857667-87857717	AG04449	skin:	fetal
14	chr4:87857413-87857463	HCPEpiC	choroid plexus:	n/a
15	chr4:87855972-87856022	GM19239	blood:	n/a
16	chr4:87856428-87856478	SK-N-MC	brain:	n/a
17	chr4:87855874-87855924	ovcar-3	ovarian:	n/a
18	chr4:87857667-87857717	ProgFib	skin:	n/a
19	chr4:87856849-87856899	LNCaP	prostate:	n/a
20	chr4:87856428-87856478	HCM	heart:	n/a
21	chr4:87857413-87857463	Jurkat	blood:	n/a
22	chr4:87855377-87855427	SK-N-SH	brain:	n/a
23	chr4:87855874-87855924	AG09309	skin:	n/a
24	chr4:87857305-87857355	NB4	blood:	n/a
25	chr4:87855942-87855992	HNPCEpiC	eye:	n/a
26	chr4:87855972-87856022	MCF-7	breast:	n/a
27	chr4:87857305-87857355	HEEpiC	esophagus:	n/a
28	chr4:87855972-87856022	CMK	blood:	n/a
29	chr4:87855874-87855924	BE2_C	brain:	n/a
30	chr4:87855982-87856032	AG04449	skin:	fetal
31	chr4:87857031-87857081	HMEC	breast:	n/a
32	chr4:87857667-87857717	T-47D	breast:	n/a
33	chr4:87855937-87855987	GM12892	blood:	n/a
34	chr4:87857413-87857463	AG04450	lung:	fetal
35	chr4:87856428-87856478	MCF-7	breast:	n/a
36	chr4:87856849-87856899	HAEpiC	amniotic membrane:	n/a
37	chr4:87857418-87857468	CMK	blood:	n/a
38	chr4:87855972-87856022	Hepatocyte	liver:	n/a
39	chr4:87855942-87855992	HCPEpiC	choroid plexus:	n/a
40	chr4:87856428-87856478	CMK	blood:	n/a
41	chr4:87855937-87855987	ECC-1	luminal epithelium:	n/a
42	chr4:87856428-87856478	IMR90	lung:	fetal
43	chr4:87855959-87856009	RPTEC	kidney:	n/a
44	chr4:87855972-87856022	Jurkat	blood:	n/a
45	chr4:87855937-87855987	Jurkat	blood:	n/a
46	chr4:87855959-87856009	HNPCEpiC	eye:	n/a
47	chr4:87855942-87855992	HAEpiC	amniotic membrane:	n/a
48	chr4:87856428-87856478	Jurkat	blood:	n/a
49	chr4:87855942-87855992	SK-N-MC	brain:	n/a
50	chr4:87855972-87856022	GM12892	blood:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:7387417..7387950-chr4:87855939..87856445,2	Hela-S3	cervix:
2	chr4:87855884..87856686-chr6:32939572..32940072,2	HCT-116	colon:
3	chr4:87853395..87861870-chr4:87925425..87930611,18	MCF-7	breast:
4	chr4:87855268..87857472-chr4:88140405..88143113,3	MCF-7	breast:
5	chr4:87855810..87856702-chr8:142011115..142011980,2	Hela-S3	cervix:
6	chr4:87854791..87857074-chr4:87968149..87971029,2	K562	blood:
7	chr11:62608643..62609622-chr4:87855968..87856688,2	Hela-S3	cervix:
8	chr4:87854708..87860113-chr4:87926348..87930107,23	MCF-7	breast:
9	chr4:87855994..87856653-chr9:98638123..98638697,2	Hela-S3	cervix:
10	chr19:50370328..50370862-chr4:87855882..87856437,2	Hela-S3	cervix:
11	chr4:87854638..87857344-chr4:88139505..88141852,2	K562	blood:
12	chr4:87856637..87857264-chr5:38846046..38846599,2	Hela-S3	cervix:
13	chr4:87856629..87857258-chr4:100870706..100871438,2	Hela-S3	cervix:
14	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:
15	chr4:87855388..87857616-chr4:87927379..87929131,8	MCF-7	breast:
16	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC10A6-2	chr4:87856603-87856959	NONHSAT097293
2	lnc-SLC10A6-2	chr4:87855639-87856091	NONHSAT097289
3	lnc-SLC10A6-2	chr4:87855639-87856002	NONHSAT097291
4	lnc-SLC10A6-2	chr4:87857140-87857330	NONHSAT097286
5	lnc-SLC10A6-2	chr4:87857140-87857320	NONHSAT097290
6	lnc-SLC10A6-2	chr4:87857140-87857354	NONHSAT097293
7	lnc-SLC10A6-2	chr4:87855639-87855694	NONHSAT097292

No data

Variant related genes	Relation type
AFF1	TF binding region
C4orf36	TF binding region
AFF1	CpG island
C4orf36	CpG island
ENSG00000172493	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000175611	chromatin interactions
ENSG00000169398	chromatin interactions
ENSG00000145623	chromatin interactions
ENSG00000182150	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000039650	chromatin interactions
ENSG00000145332	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000204256	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369014846	chr4:87855183-87855184	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs558395418	chr4:87855242-87855243	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs573481254	chr4:87855244-87855245	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs79426316	chr4:87855245-87855246	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs375450478	chr4:87855261-87855262	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs145369959	chr4:87855263-87855264	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs199863006	chr4:87855277-87855278	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs543519173	chr4:87855315-87855316	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs563713967	chr4:87855401-87855402	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs573396828	chr4:87855417-87855418	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs543856331	chr4:87855477-87855478	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs367745073	chr4:87855495-87855496	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs562251081	chr4:87855504-87855505	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs529228857	chr4:87855527-87855528	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs188208385	chr4:87855554-87855555	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs149188267	chr4:87855663-87855664	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs527626063	chr4:87855709-87855710	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs542606613	chr4:87855771-87855772	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs562113633	chr4:87855772-87855773	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs529310637	chr4:87856028-87856029	Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
21	rs116853799	chr4:87856055-87856056	Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
22	rs569391285	chr4:87856062-87856063	Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
23	rs533542822	chr4:87856074-87856075	Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
24	rs551720261	chr4:87856084-87856085	Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
25	rs567143518	chr4:87856116-87856117	Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs534271192	chr4:87856167-87856168	Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs555643396	chr4:87856168-87856169	Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs559261173	chr4:87856174-87856175	Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs570652653	chr4:87856194-87856195	Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs28642687	chr4:87856201-87856202	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs566879800	chr4:87856251-87856252	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs368737611	chr4:87856256-87856257	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs537460592	chr4:87856283-87856284	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs371773533	chr4:87856307-87856308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs577344695	chr4:87856345-87856346	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs545174704	chr4:87856352-87856353	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs28365773	chr4:87856353-87856354	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs55644945	chr4:87856365-87856366	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs542513203	chr4:87856460-87856461	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs561177020	chr4:87856497-87856498	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs112850586	chr4:87856601-87856602	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs369657720	chr4:87856624-87856625	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
43	rs574745169	chr4:87856654-87856655	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
44	rs544640632	chr4:87856662-87856663	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
45	rs895740	chr4:87856673-87856674	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551188886	chr4:87856701-87856702	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
47	rs533304214	chr4:87856729-87856730	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
48	rs115352992	chr4:87856788-87856789	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
49	rs566905248	chr4:87856799-87856800	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
50	rs141814000	chr4:87856811-87856812	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87825800-87855200	Weak transcription	Fetal Stomach	stomach
2	chr4:87830200-87855200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:87842600-87855400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:87845800-87855200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:87846400-87855400	Weak transcription	Gastric	stomach
6	chr4:87849400-87855200	Weak transcription	Thymus	Thymus
7	chr4:87849600-87855400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:87849800-87855200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:87849800-87855400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:87849800-87855400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:87849800-87855400	Weak transcription	Esophagus	oesophagus
12	chr4:87849800-87855400	Weak transcription	Lung	lung
13	chr4:87849800-87855800	Weak transcription	Spleen	Spleen
14	chr4:87850400-87855200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:87851200-87855200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr4:87851400-87855200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:87851400-87855200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:87852400-87855200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:87852800-87855200	Weak transcription	Left Ventricle	heart
20	chr4:87852800-87855200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:87852800-87855400	Weak transcription	Pancreas	Pancrea
22	chr4:87854400-87855200	Enhancers	Brain Cingulate Gyrus	brain
23	chr4:87854400-87855200	Enhancers	Fetal Intestine Small	intestine
24	chr4:87854400-87855400	Enhancers	Liver	Liver
25	chr4:87854400-87855800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:87854600-87857000	Active TSS	Placenta	Placenta
27	chr4:87854800-87855200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr4:87854800-87855200	Enhancers	Primary B cells from cord blood	blood
29	chr4:87854800-87855200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:87854800-87855200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr4:87854800-87855200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:87854800-87855200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr4:87854800-87855200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:87854800-87855200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr4:87854800-87855200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr4:87854800-87855200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:87854800-87855200	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr4:87854800-87855200	Enhancers	Fetal Thymus	thymus
39	chr4:87854800-87855200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr4:87854800-87855200	Flanking Active TSS	GM12878-XiMat	blood
41	chr4:87854800-87855200	Flanking Active TSS	Hela-S3	cervix
42	chr4:87854800-87855200	Enhancers	HSMM	muscle
43	chr4:87854800-87855200	Flanking Active TSS	NHDF-Ad	bronchial
44	chr4:87854800-87855200	Enhancers	NHLF	lung
45	chr4:87854800-87855400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr4:87854800-87855400	Enhancers	Primary B cells from peripheral blood	blood
47	chr4:87854800-87855400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr4:87854800-87855600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:87854800-87855600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:87854800-87855800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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