Variant report

Variant	nsv830563
Chromosome Location	chr5:179717693-179898609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3691)
CpG islands
(count:4150)
Chromatin interactive
region (count:213)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

(count:3691 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179724661-179724980	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:179720502-179720795	K562	blood:	n/a	n/a
3	ARID3A	chr5:179720477-179720778	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:179758273-179758284	K562	blood:	n/a	n/a
5	ARID3A	chr5:179730871-179731124	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:179839178-179839187	K562	blood:	n/a	n/a
7	ARID3A	chr5:179717554-179717711	HepG2	liver:	n/a	n/a
8	ATF2	chr5:179720348-179720900	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr5:179770369-179771163	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr5:179758507-179759265	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr5:179755640-179756058	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr5:179758900-179759312	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr5:179720267-179720956	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr5:179755543-179755996	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr5:179757685-179758309	A549	lung:	n/a	chr5:179758018-179758031
16	ATF3	chr5:179720392-179720963	A549	lung:	n/a	n/a
17	ATF3	chr5:179757614-179758313	A549	lung:	n/a	chr5:179758018-179758031
18	BACH1	chr5:179897963-179898282	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr5:179779057-179779111	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr5:179779393-179779698	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr5:179758683-179759306	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr5:179770098-179770954	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr5:179779932-179780969	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr5:179781289-179781456	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr5:179794267-179794718	GM12878	blood:	n/a	n/a
26	BATF	chr5:179794372-179794604	GM12878	blood:	n/a	n/a
27	BCL11A	chr5:179794291-179794620	GM12878	blood:	n/a	n/a
28	BCL3	chr5:179720340-179721023	A549	lung:	n/a	n/a
29	BCL3	chr5:179894036-179894564	A549	lung:	n/a	chr5:179894213-179894222
30	BCL3	chr5:179792018-179792284	GM12878	blood:	n/a	n/a
31	BCL3	chr5:179760561-179761070	A549	lung:	n/a	n/a
32	BCL3	chr5:179868437-179868959	A549	lung:	n/a	n/a
33	BCL3	chr5:179757304-179758364	A549	lung:	n/a	n/a
34	BCL3	chr5:179896707-179896968	GM12878	blood:	n/a	n/a
35	BCL3	chr5:179757567-179758375	A549	lung:	n/a	n/a
36	BCL3	chr5:179760458-179761065	A549	lung:	n/a	n/a
37	BCLAF1	chr5:179720327-179720896	GM12878	blood:	n/a	n/a
38	BHLHE40	chr5:179749490-179749574	K562	blood:	n/a	chr5:179749519-179749528 chr5:179749518-179749531 chr5:179749520-179749529 chr5:179749520-179749529
39	BHLHE40	chr5:179742735-179743050	GM12878	blood:	n/a	n/a
40	BHLHE40	chr5:179719365-179719686	K562	blood:	n/a	n/a
41	BHLHE40	chr5:179720495-179720872	GM12878	blood:	n/a	n/a
42	BHLHE40	chr5:179740757-179741008	HepG2	liver:	n/a	n/a
43	BHLHE40	chr5:179758303-179758312	K562	blood:	n/a	n/a
44	BHLHE40	chr5:179817911-179818150	K562	blood:	n/a	n/a
45	BHLHE40	chr5:179718950-179719809	GM12878	blood:	n/a	n/a
46	BHLHE40	chr5:179720388-179720831	K562	blood:	n/a	n/a
47	BHLHE40	chr5:179891686-179891866	HepG2	liver:	n/a	n/a
48	BHLHE40	chr5:179742722-179743065	K562	blood:	n/a	n/a
49	BHLHE40	chr5:179898034-179898300	K562	blood:	n/a	n/a
50	BHLHE40	chr5:179741343-179741375	K562	blood:	n/a	n/a

(count:4150 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179815975-179816025	Hepatocyte	liver:	n/a
2	chr5:179770299-179770349	SK-N-MC	brain:	n/a
3	chr5:179815975-179816025	Hepatocyte	liver:	n/a
4	chr5:179770299-179770349	SK-N-MC	brain:	n/a
5	chr5:179779123-179779173	AG10803	skin:	n/a
6	chr5:179780802-179780852	MCF10A-Er-Src	breast:	n/a
7	chr5:179718685-179718735	CMK	blood:	n/a
8	chr5:179755573-179755623	SK-N-MC	brain:	n/a
9	chr5:179765449-179765499	A549	lung:	n/a
10	chr5:179720254-179720304	HEK293	kidney:	embryo
11	chr5:179743769-179743819	SAEC	small airway:	n/a
12	chr5:179779115-179779165	H1-hESC	embryonic stem cell:	embryo
13	chr5:179740188-179740238	NB4	blood:	n/a
14	chr5:179806657-179806707	GM12891	blood:	n/a
15	chr5:179763494-179763544	K562	blood:	n/a
16	chr5:179723634-179723684	HEK293	kidney:	embryo
17	chr5:179777565-179777615	NT2-D1	testis:	n/a
18	chr5:179780802-179780852	LNCaP	prostate:	n/a
19	chr5:179755573-179755623	HRPEpiC	eye:	n/a
20	chr5:179763055-179763105	Caco-2	colon:	n/a
21	chr5:179765497-179765547	HEEpiC	esophagus:	n/a
22	chr5:179886642-179886692	HRE	kidney:	n/a
23	chr5:179765449-179765499	Hela-S3	cervix:	n/a
24	chr5:179751794-179751844	Caco-2	colon:	n/a
25	chr5:179817027-179817077	K562	blood:	n/a
26	chr5:179743586-179743636	NB4	blood:	n/a
27	chr5:179779237-179779287	PrEC	prostate:	n/a
28	chr5:179781245-179781295	AG04449	skin:	fetal
29	chr5:179751794-179751844	GM19239	blood:	n/a
30	chr5:179868587-179868637	GM12892	blood:	n/a
31	chr5:179737792-179737842	HRCEpiC	kidney:	n/a
32	chr5:179781547-179781597	MCF10A-Er-Src	breast:	n/a
33	chr5:179780314-179780364	U87	brain:	n/a
34	chr5:179740914-179740964	AG04449	skin:	fetal
35	chr5:179763951-179764001	AG04450	lung:	fetal
36	chr5:179719756-179719806	GM12892	blood:	n/a
37	chr5:179886642-179886692	SKMC	muscle:	n/a
38	chr5:179778527-179778577	HCM	heart:	n/a
39	chr5:179762999-179763049	ECC-1	luminal epithelium:	n/a
40	chr5:179779123-179779173	NT2-D1	testis:	n/a
41	chr5:179755573-179755623	H1-hESC	embryonic stem cell:	embryo
42	chr5:179741120-179741170	Caco-2	colon:	n/a
43	chr5:179723634-179723684	PrEC	prostate:	n/a
44	chr5:179859344-179859394	AG09309	skin:	n/a
45	chr5:179763678-179763728	MCF-7	breast:	n/a
46	chr5:179780802-179780852	SAEC	small airway:	n/a
47	chr5:179737792-179737842	HL-60	blood:	n/a
48	chr5:179771628-179771678	HCF	heart:	n/a
49	chr5:179868587-179868637	AG04449	skin:	fetal
50	chr5:179755324-179755374	NH-A	brain:	n/a

(count:213 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr5:179738783..179741691-chr5:179897243..179899588,2	MCF-7	breast:
2	chr5:179719250..179721659-chr5:179743726..179746072,2	MCF-7	breast:
3	chr5:179862165..179864527-chr5:179866069..179868577,2	MCF-7	breast:
4	chr5:179716122..179718666-chr5:179757910..179760029,2	K562	blood:
5	chr5:179772488..179776798-chr5:179777928..179781659,4	K562	blood:
6	chr5:179740156..179743106-chr5:179752395..179754766,3	MCF-7	breast:
7	chr5:179720303..179721088-chr5:179756913..179757480,2	MCF-7	breast:
8	chr5:179890863..179893411-chr5:179896364..179898839,3	K562	blood:
9	chr5:179763941..179765836-chr5:179767390..179770088,2	K562	blood:
10	chr5:179720287..179721046-chr5:179740621..179741577,2	MCF-7	breast:
11	chr5:179739299..179743379-chr5:179893176..179898905,6	MCF-7	breast:
12	chr19:13263786..13264489-chr5:179894149..179895088,2	Hela-S3	cervix:
13	chr5:179718174..179720847-chr5:179898001..179899613,2	MCF-7	breast:
14	chr2:178298391..178298891-chr5:179720979..179721480,2	Hela-S3	cervix:
15	chr5:179714950..179716889-chr5:179783751..179785977,2	K562	blood:
16	chr5:179778332..179781251-chr5:179920436..179923318,3	MCF-7	breast:
17	chr5:179754405..179760149-chr5:179891592..179897254,9	MCF-7	breast:
18	chr5:179777936..179782491-chr5:179891240..179895951,5	MCF-7	breast:
19	chr5:179740156..179743106-chr5:179752395..179754766,3	MCF-7	breast:
20	chr5:179755365..179757615-chr5:179761406..179763311,3	K562	blood:
21	chr5:179749469..179751688-chr5:179754397..179756302,3	MCF-7	breast:
22	chr5:179773523..179775138-chr5:179800257..179803108,2	MCF-7	breast:
23	chr5:179735551..179737821-chr5:179739675..179741218,2	MCF-7	breast:
24	chr5:179763941..179765836-chr5:179767390..179770088,2	K562	blood:
25	chr5:179776807..179778775-chr5:179896611..179898165,2	MCF-7	breast:
26	chr5:179718120..179720283-chr5:180227933..180230146,2	MCF-7	breast:
27	chr5:179718755..179721306-chr5:179919977..179922949,4	MCF-7	breast:
28	chr5:179723581..179725108-chr5:179754464..179757151,2	MCF-7	breast:
29	chr5:179717698..179720150-chr5:179758033..179760822,3	MCF-7	breast:
30	chr5:179738783..179741691-chr5:179897243..179899588,2	MCF-7	breast:
31	chr5:179717360..179719935-chr5:179731872..179734158,2	K562	blood:
32	chr5:179896623..179899135-chr5:179900474..179902036,2	MCF-7	breast:
33	chr5:179728336..179731115-chr5:179738243..179739763,2	MCF-7	breast:
34	chr5:179892192..179893698-chr5:179898781..179900873,2	MCF-7	breast:
35	chr5:179887683..179889324-chr5:179889418..179891911,2	K562	blood:
36	chr5:179718262..179720717-chr5:180237170..180239607,2	MCF-7	breast:
37	chr5:179715674..179717304-chr5:179721521..179723626,2	K562	blood:
38	chr5:179817994..179819684-chr5:179863109..179865015,2	MCF-7	breast:
39	chr5:179727104..179728705-chr5:179740247..179742971,2	MCF-7	breast:
40	chr5:179627950..179628952-chr5:179742140..179743347,3	K562	blood:
41	chr5:179744373..179746691-chr5:179749778..179751950,2	K562	blood:
42	chr5:179817994..179819684-chr5:179863109..179865015,2	MCF-7	breast:
43	chr5:179715141..179717166-chr5:179896710..179898786,2	MCF-7	breast:
44	chr5:179767711..179769306-chr5:179771543..179774256,2	K562	blood:
45	chr5:179715940..179718137-chr5:179891672..179893899,2	MCF-7	breast:
46	chr5:179719970..179720873-chr5:179742427..179743336,6	MCF-7	breast:
47	chr5:179743201..179745094-chr5:179754638..179756187,2	MCF-7	breast:
48	chr5:179717189..179723869-chr5:179893101..179900893,11	MCF-7	breast:
49	chr5:179850450..179853162-chr5:179855103..179857524,2	K562	blood:
50	chr5:179720392..179721373-chr5:179895885..179896410,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNOT6-2	chr5:179869730-179870238	XLOC_004679
2	lnc-CNOT6-4	chr5:179719184-179722539	NONHSAT105673
3	lnc-CNOT6-1	chr5:179894886-179895269	XLOC_004680
4	lnc-CNOT6-4	chr5:179722035-179722253	XLOC_004678
5	lnc-CNOT6-4	chr5:179720245-179720418	XLOC_004678
6	lnc-CNOT6-2	chr5:179868559-179868855	XLOC_004679
7	lnc-CNOT6-4	chr5:179722035-179722215	XLOC_004678
8	lnc-CNOT6-4	chr5:179719195-179719481	XLOC_004678

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	GFPT2	hsa-miR-128-3p	chr5:179728276-179728270
2	GFPT2	hsa-miR-32-5p	chr5:179728307-179728300
3	GFPT2	hsa-miR-124-3p	chr5:179728421-179728440
4	GFPT2	hsa-miR-32-5p	chr5:179728301-179728322
5	GFPT2	hsa-miR-101-3p	chr5:179728272-179728293
6	GFPT2	hsa-miR-124-3p	chr5:179728427-179728421
7	GFPT2	hsa-miR-101-3p	chr5:179728387-179728408
8	GFPT2	hsa-miR-30b-5p	chr5:179728340-179728362
9	GFPT2	hsa-miR-30b-5p	chr5:179728346-179728339

Variant related genes	Relation type
GFPT2	TF binding region
ENSG00000248367	TF binding region
RNU6-525P	TF binding region
MAPK9	TF binding region
ENSG00000250509	TF binding region
GFPT2	CpG island
ENSG00000248367	CpG island
RNU6-525P	CpG island
MAPK9	CpG island
ENSG00000250509	CpG island
ENSG00000267073	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000198518	chromatin interactions
ENSG00000050748	chromatin interactions
ENSG00000250509	chromatin interactions
ENSG00000146090	chromatin interactions
ENSG00000113300	chromatin interactions
ENSG00000253908	chromatin interactions
ENSG00000131459	chromatin interactions
ATXN1L	miRNA target sites
ATXN7	miRNA target sites
TGFBR1	miRNA target sites

Extended variants
information (count: 7624 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:7624 , 50 per page) page: 1 2 3 4 5 6 7 ... 153

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550337175	chr5:179717720-179717721	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs570199667	chr5:179717740-179717741	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs374932869	chr5:179717828-179717829	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs536122500	chr5:179717849-179717850	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs549444879	chr5:179717907-179717908	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs567682812	chr5:179717908-179717909	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs77251925	chr5:179717943-179717944	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs192793596	chr5:179717981-179717982	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs35115810	chr5:179718001-179718002	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs576520995	chr5:179718007-179718008	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs540631519	chr5:179718027-179718028	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs560590089	chr5:179718071-179718072	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs556302625	chr5:179718115-179718116	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs184844236	chr5:179718131-179718132	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs145618038	chr5:179718135-179718136	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs577306856	chr5:179718162-179718163	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs527871599	chr5:179718173-179718174	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs4274946	chr5:179718189-179718190	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs555723981	chr5:179718208-179718209	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs572425743	chr5:179718220-179718221	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs541448958	chr5:179718228-179718229	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs564509963	chr5:179718279-179718280	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs565988124	chr5:179718293-179718294	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs188276588	chr5:179718330-179718331	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs563889781	chr5:179718332-179718333	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs529478163	chr5:179718395-179718396	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs142416325	chr5:179718396-179718397	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs566035356	chr5:179718409-179718410	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs180752640	chr5:179718475-179718476	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs546986692	chr5:179718478-179718479	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs570142701	chr5:179718501-179718502	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs113555139	chr5:179718516-179718517	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs539505935	chr5:179718546-179718547	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs201756765	chr5:179718561-179718562	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs371731987	chr5:179718578-179718579	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs376718901	chr5:179718608-179718609	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs556002653	chr5:179718763-179718764	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs4438839	chr5:179718804-179718805	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs556169756	chr5:179718971-179718972	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs535296084	chr5:179719003-179719004	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs555663311	chr5:179719057-179719058	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs572358695	chr5:179719206-179719207	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
43	rs541381540	chr5:179719209-179719210	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
44	rs369631822	chr5:179719216-179719217	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
45	rs558160130	chr5:179719220-179719221	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
46	rs577984134	chr5:179719229-179719230	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
47	rs543862932	chr5:179719263-179719264	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
48	rs189372226	chr5:179719266-179719267	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
49	rs529441068	chr5:179719373-179719374	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
50	rs374103580	chr5:179719539-179719540	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3156 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179692800-179718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:179704600-179718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:179706800-179718400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:179708400-179717800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:179710000-179717800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:179710400-179717800	Weak transcription	Right Ventricle	heart
7	chr5:179711600-179718000	Weak transcription	Lung	lung
8	chr5:179712400-179717800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:179714800-179717800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:179715800-179717800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:179716200-179718600	Enhancers	Stomach Mucosa	stomach
12	chr5:179716400-179717800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:179716400-179718000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:179716400-179718000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:179716600-179717800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:179716600-179717800	Enhancers	Brain Anterior Caudate	brain
17	chr5:179716600-179717800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:179716600-179717800	Enhancers	Left Ventricle	heart
19	chr5:179716600-179718000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:179716600-179718000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:179716600-179718000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:179716600-179718000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr5:179716600-179718000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:179716600-179718000	Enhancers	Esophagus	oesophagus
25	chr5:179716600-179718000	Enhancers	Fetal Lung	lung
26	chr5:179716600-179718000	Enhancers	Psoas Muscle	Psoas
27	chr5:179716800-179718000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:179716800-179718000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr5:179716800-179718400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:179717000-179717800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr5:179717000-179717800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:179717000-179717800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr5:179717000-179718000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:179717000-179718000	Enhancers	Ovary	ovary
35	chr5:179717000-179718400	Enhancers	Spleen	Spleen
36	chr5:179717200-179717800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:179717200-179717800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:179717200-179717800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:179717200-179717800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:179717200-179717800	Enhancers	Brain Angular Gyrus	brain
41	chr5:179717200-179717800	Enhancers	Colon Smooth Muscle	Colon
42	chr5:179717200-179717800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr5:179717200-179717800	Enhancers	Fetal Thymus	thymus
44	chr5:179717200-179717800	Enhancers	Stomach Smooth Muscle	stomach
45	chr5:179717200-179717800	Enhancers	Thymus	Thymus
46	chr5:179717200-179718000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr5:179717200-179718000	Enhancers	Fetal Muscle Leg	muscle
48	chr5:179717200-179718000	Enhancers	Placenta	Placenta
49	chr5:179717200-179718000	Enhancers	Fetal Stomach	stomach
50	chr5:179717200-179718000	Enhancers	Small Intestine	intestine

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