Variant report

Variant	nsv831309
Chromosome Location	chr8:48815290-48977856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3702)
CpG islands
(count:1953)
Chromatin interactive
region (count:164)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:3702 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:48909052-48909241	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:48905475-48905861	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:48879708-48880140	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:48909809-48910128	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:48954659-48955530	HepG2	liver:	n/a	n/a
6	ARID3A	chr8:48909808-48910086	K562	blood:	n/a	n/a
7	ARID3A	chr8:48915966-48916230	HepG2	liver:	n/a	n/a
8	ARID3A	chr8:48895484-48895695	HepG2	liver:	n/a	n/a
9	ARID3A	chr8:48872863-48873605	K562	blood:	n/a	chr8:48873270-48873278
10	ARID3A	chr8:48872565-48873634	HepG2	liver:	n/a	chr8:48873270-48873278
11	ARID3A	chr8:48920792-48921191	HepG2	liver:	n/a	n/a
12	ATF1	chr8:48911599-48911799	K562	blood:	n/a	n/a
13	ATF1	chr8:48873182-48873558	K562	blood:	n/a	n/a
14	ATF1	chr8:48920761-48921122	K562	blood:	n/a	n/a
15	ATF1	chr8:48975614-48975808	K562	blood:	n/a	n/a
16	ATF2	chr8:48814851-48815342	GM12878	blood:	n/a	n/a
17	ATF2	chr8:48872671-48873661	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr8:48920689-48921069	GM12878	blood:	n/a	n/a
19	ATF2	chr8:48873078-48873648	GM12878	blood:	n/a	n/a
20	ATF2	chr8:48872630-48873618	GM12878	blood:	n/a	n/a
21	ATF2	chr8:48872659-48873677	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr8:48814692-48815306	GM12878	blood:	n/a	n/a
23	ATF2	chr8:48872229-48873077	GM12878	blood:	n/a	n/a
24	ATF3	chr8:48873076-48873396	A549	lung:	n/a	n/a
25	ATF3	chr8:48920846-48921194	A549	lung:	n/a	n/a
26	ATF3	chr8:48873139-48873694	A549	lung:	n/a	chr8:48873579-48873588
27	ATF3	chr8:48920715-48921150	K562	blood:	n/a	n/a
28	ATF3	chr8:48872460-48872962	A549	lung:	n/a	chr8:48872766-48872775
29	ATF3	chr8:48920796-48921148	A549	lung:	n/a	n/a
30	ATF3	chr8:48872471-48872782	K562	blood:	n/a	chr8:48872766-48872775
31	BACH1	chr8:48872546-48872866	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr8:48872877-48873374	K562	blood:	n/a	n/a
33	BACH1	chr8:48892735-48892903	K562	blood:	n/a	n/a
34	BACH1	chr8:48874797-48874813	K562	blood:	n/a	n/a
35	BACH1	chr8:48920856-48921088	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr8:48873138-48874173	H1-hESC	embryonic stem cell:	n/a	chr8:48873984-48873998
37	BATF	chr8:48886372-48886721	GM12878	blood:	n/a	n/a
38	BATF	chr8:48886320-48886704	GM12878	blood:	n/a	n/a
39	BATF	chr8:48947286-48947520	GM12878	blood:	n/a	n/a
40	BATF	chr8:48947249-48947622	GM12878	blood:	n/a	n/a
41	BATF	chr8:48949938-48950269	GM12878	blood:	n/a	n/a
42	BATF	chr8:48873803-48874147	GM12878	blood:	n/a	chr8:48873984-48873994 chr8:48873987-48873998
43	BCL3	chr8:48872454-48873792	A549	lung:	n/a	chr8:48872767-48872776 chr8:48872461-48872474 chr8:48872755-48872768 chr8:48872460-48872473 chr8:48873581-48873594 chr8:48873624-48873637
44	BCLAF1	chr8:48920710-48921420	GM12878	blood:	n/a	chr8:48920936-48920949 chr8:48920951-48920960
45	BCLAF1	chr8:48872350-48874375	GM12878	blood:	n/a	chr8:48873810-48873819 chr8:48872767-48872776 chr8:48872461-48872474 chr8:48872755-48872768 chr8:48872460-48872473 chr8:48873581-48873594 chr8:48873624-48873637
46	BCLAF1	chr8:48872468-48873772	GM12878	blood:	n/a	chr8:48872767-48872776 chr8:48872755-48872768 chr8:48873581-48873594 chr8:48873624-48873637
47	BCLAF1	chr8:48920662-48921584	K562	blood:	n/a	chr8:48920936-48920949 chr8:48920951-48920960
48	BHLHE40	chr8:48910592-48910762	K562	blood:	n/a	n/a
49	BHLHE40	chr8:48886509-48886614	GM12878	blood:	n/a	n/a
50	BHLHE40	chr8:48814879-48815352	GM12878	blood:	n/a	n/a

(count:1953 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:48921062-48921112	NHBE	bronchial:	n/a
2	chr8:48921062-48921112	NHBE	bronchial:	n/a
3	chr8:48873951-48874001	H1-hESC	embryonic stem cell:	embryo
4	chr8:48920761-48920811	H1-hESC	embryonic stem cell:	embryo
5	chr8:48871883-48871933	HAEpiC	amniotic membrane:	n/a
6	chr8:48854968-48855018	T-47D	breast:	n/a
7	chr8:48873533-48873583	ECC-1	luminal epithelium:	n/a
8	chr8:48873533-48873583	HMEC	breast:	n/a
9	chr8:48920761-48920811	ProgFib	skin:	n/a
10	chr8:48910778-48910828	HL-60	blood:	n/a
11	chr8:48921062-48921112	NT2-D1	testis:	n/a
12	chr8:48920460-48920510	MCF-7	breast:	n/a
13	chr8:48920818-48920868	GM12878	blood:	n/a
14	chr8:48872822-48872872	NHDF-neo	bronchial:	n/a
15	chr8:48873190-48873240	Hepatocyte	liver:	n/a
16	chr8:48872801-48872851	HNPCEpiC	eye:	n/a
17	chr8:48872876-48872926	Caco-2	colon:	n/a
18	chr8:48889520-48889570	HepG2	liver:	n/a
19	chr8:48889520-48889570	GM12878	blood:	n/a
20	chr8:48910636-48910686	MCF-7	breast:	n/a
21	chr8:48921407-48921457	U87	brain:	n/a
22	chr8:48877513-48877563	GM12892	blood:	n/a
23	chr8:48872865-48872915	SK-N-SH	brain:	n/a
24	chr8:48920860-48920910	HRCEpiC	kidney:	n/a
25	chr8:48924348-48924398	ECC-1	luminal epithelium:	n/a
26	chr8:48873533-48873583	PFSK-1	brain:	n/a
27	chr8:48924348-48924398	IMR90	lung:	fetal
28	chr8:48873533-48873583	AG04449	skin:	fetal
29	chr8:48871883-48871933	HL-60	blood:	n/a
30	chr8:48921407-48921457	RPTEC	kidney:	n/a
31	chr8:48920460-48920510	U87	brain:	n/a
32	chr8:48869819-48869869	HCM	heart:	n/a
33	chr8:48920761-48920811	HUVEC	blood vessel:	n/a
34	chr8:48872865-48872915	AG04450	lung:	fetal
35	chr8:48871883-48871933	AG09309	skin:	n/a
36	chr8:48920818-48920868	GM06990	blood:	n/a
37	chr8:48921337-48921387	GM06990	blood:	n/a
38	chr8:48873951-48874001	NHBE	bronchial:	n/a
39	chr8:48871883-48871933	HIPEpiC	eye:	n/a
40	chr8:48920860-48920910	HIPEpiC	eye:	n/a
41	chr8:48872801-48872851	RPTEC	kidney:	n/a
42	chr8:48871883-48871933	LNCaP	prostate:	n/a
43	chr8:48873326-48873376	PFSK-1	brain:	n/a
44	chr8:48920761-48920811	GM12891	blood:	n/a
45	chr8:48910636-48910686	SKMC	muscle:	n/a
46	chr8:48921554-48921604	BJ	skin:	n/a
47	chr8:48921337-48921387	H1-hESC	embryonic stem cell:	embryo
48	chr8:48872865-48872915	GM12878	blood:	n/a
49	chr8:48910636-48910686	Caco-2	colon:	n/a
50	chr8:48921337-48921387	HEK293	kidney:	embryo

(count:164 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr8:48836211..48838209-chr8:48842073..48843953,2	MCF-7	breast:
2	chr8:48842361..48844331-chr8:48852612..48854748,2	MCF-7	breast:
3	chr8:48830577..48833973-chr8:48871114..48874120,3	MCF-7	breast:
4	chr8:48957180..48959047-chr8:48960507..48962710,2	K562	blood:
5	chr8:48900497..48902093-chr8:48902216..48905127,2	MCF-7	breast:
6	chr8:48870534..48872766-chr8:48885611..48888462,2	MCF-7	breast:
7	chr8:48853605..48856725-chr8:48865845..48868250,3	MCF-7	breast:
8	chr8:48943545..48946467-chr8:48947944..48950254,3	K562	blood:
9	chr19:50879673..50880251-chr8:48920915..48921687,2	Hela-S3	cervix:
10	chr8:48873301..48875713-chr8:48914847..48916375,2	K562	blood:
11	chr8:48843317..48847035-chr8:48871031..48874795,6	K562	blood:
12	chr8:48970388..48974071-chr8:48975063..48978866,4	K562	blood:
13	chr8:48919638..48923031-chr8:48924229..48928095,7	MCF-7	breast:
14	chr8:48871246..48875685-chr8:48919504..48923066,10	K562	blood:
15	chr8:48924792..48926393-chr8:48927338..48929721,2	K562	blood:
16	chr8:48835669..48838188-chr8:48855543..48858142,2	K562	blood:
17	chr8:48881714..48884143-chr8:48924954..48927887,2	MCF-7	breast:
18	chr8:48830231..48832723-chr8:48832823..48835481,2	MCF-7	breast:
19	chr8:48845787..48848384-chr8:48854733..48856494,2	MCF-7	breast:
20	chr8:48949897..48951407-chr8:48952676..48954247,2	MCF-7	breast:
21	chr8:48880651..48882181-chr8:48887317..48888822,2	MCF-7	breast:
22	chr8:48883221..48885743-chr8:48901400..48903246,2	MCF-7	breast:
23	chr8:48830231..48832723-chr8:48832823..48835481,2	MCF-7	breast:
24	chr8:48823109..48828322-chr8:48830609..48833340,5	K562	blood:
25	chr8:48920254..48923221-chr8:48935046..48937376,4	MCF-7	breast:
26	chr8:48924342..48926810-chr8:48928221..48931397,3	K562	blood:
27	chr8:48809750..48812575-chr8:48815045..48817553,2	K562	blood:
28	chr8:48869692..48871263-chr8:48950585..48953419,2	MCF-7	breast:
29	chr8:48871246..48875685-chr8:48919504..48923066,10	K562	blood:
30	chr8:48839901..48842172-chr8:48844421..48847174,2	K562	blood:
31	chr8:48818008..48822134-chr8:48871841..48874132,4	K562	blood:
32	chr8:48849661..48851317-chr8:48858106..48860426,2	K562	blood:
33	chr8:48938195..48942344-chr8:48943305..48947689,4	K562	blood:
34	chr8:48957775..48961134-chr8:48963246..48966717,4	K562	blood:
35	chr8:48868410..48871024-chr8:48887533..48889835,2	MCF-7	breast:
36	chr8:48920273..48922955-chr8:48929945..48932425,2	MCF-7	breast:
37	chr8:48820342..48823046-chr8:48823187..48826342,3	K562	blood:
38	chr8:48842361..48844331-chr8:48852612..48854748,2	MCF-7	breast:
39	chr8:48851587..48857130-chr8:48871349..48874968,8	MCF-7	breast:
40	chr8:48823109..48828322-chr8:48830609..48833340,5	K562	blood:
41	chr8:48851587..48857130-chr8:48871349..48874968,8	MCF-7	breast:
42	chr8:48923287..48925205-chr8:48959755..48962369,2	K562	blood:
43	chr8:48955264..48957497-chr8:48959787..48961410,2	K562	blood:
44	chr8:48891073..48892755-chr8:48912135..48914250,2	K562	blood:
45	chr8:48915545..48918522-chr8:48918892..48921377,2	MCF-7	breast:
46	chr8:48818457..48820091-chr8:48825193..48827901,2	MCF-7	breast:
47	chr8:48878378..48881135-chr8:48887828..48890847,3	MCF-7	breast:
48	chr8:48854339..48856156-chr8:48856276..48857926,2	MCF-7	breast:
49	chr8:48885569..48887967-chr8:48920138..48922569,2	K562	blood:
50	chr8:48837592..48840546-chr8:48872351..48874883,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MCM4-1	chr8:48855141-48855324	NONHSAT126462
2	lnc-MCM4-2	chr8:48854790-48855069	NONHSAT126461
3	lnc-MCM4-1	chr8:48857309-48857338	NONHSAT126462
4	lnc-MCM4-2	chr8:48854048-48854246	NONHSAT126461

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	MCM4	hsa-miR-24-3p	chr8:48875419-48875419
2	MCM4	hsa-miR-24-3p	chr8:48875505-48875525
3	MCM4	hsa-miR-183-5p	chr8:48889872-48889892

Variant related genes	Relation type
PRKDC	TF binding region
MCM4	TF binding region
UBE2V2	TF binding region
RNU6-519P	TF binding region
PRKDC	CpG island
MCM4	CpG island
UBE2V2	CpG island
RNU6-519P	CpG island
ENSG00000143633	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000222522	chromatin interactions
ENSG00000169139	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000157557	chromatin interactions
ENSG00000128915	chromatin interactions
ENSG00000131408	chromatin interactions
ENSG00000006634	chromatin interactions
ENSG00000211562	chromatin interactions
ENSG00000174442	chromatin interactions
ENSG00000101213	chromatin interactions
ENSG00000245534	chromatin interactions
ENSG00000149257	chromatin interactions
ENSG00000075303	chromatin interactions
ENSG00000253729	chromatin interactions
ENSG00000104738	chromatin interactions

Extended variants
information (count: 6085 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:6085 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200669578	chr8:48815297-48815298	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375650488	chr8:48815327-48815328	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372560569	chr8:48815338-48815339	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376896763	chr8:48815346-48815347	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs187813872	chr8:48815353-48815354	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370371531	chr8:48815354-48815355	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546438002	chr8:48815373-48815374	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564948492	chr8:48815395-48815396	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532277430	chr8:48815443-48815444	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544183460	chr8:48815466-48815467	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562390059	chr8:48815474-48815475	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529694422	chr8:48815508-48815509	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192742619	chr8:48815536-48815537	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs56307425	chr8:48815568-48815569	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184194141	chr8:48815572-48815573	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527455636	chr8:48815579-48815580	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551981996	chr8:48815581-48815582	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570596884	chr8:48815584-48815585	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189363098	chr8:48815608-48815609	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556519332	chr8:48815626-48815627	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568317938	chr8:48815640-48815641	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562953406	chr8:48815654-48815655	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs8178069	chr8:48815679-48815680	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs75658911	chr8:48815717-48815718	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554138514	chr8:48815719-48815720	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572801349	chr8:48815798-48815799	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs117143956	chr8:48815821-48815822	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558427131	chr8:48815843-48815844	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577007390	chr8:48815870-48815871	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs8178068	chr8:48815878-48815879	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562610525	chr8:48815910-48815911	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529622069	chr8:48815930-48815931	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541831049	chr8:48815971-48815972	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551767690	chr8:48815991-48815992	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559992334	chr8:48815992-48815993	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527614795	chr8:48815993-48815994	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551945297	chr8:48816050-48816051	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570361411	chr8:48816061-48816062	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531537768	chr8:48816088-48816089	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549968802	chr8:48816117-48816118	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs141669591	chr8:48816155-48816156	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535456773	chr8:48816201-48816202	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs116853872	chr8:48816204-48816205	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs377577285	chr8:48816263-48816264	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571577131	chr8:48816283-48816284	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150436833	chr8:48816355-48816356	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs576855090	chr8:48816410-48816411	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576519203	chr8:48816415-48816416	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544009468	chr8:48816443-48816444	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555957583	chr8:48816489-48816490	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
22q11 deletion syndrome	20357662	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Renal cell carcinoma	21215367	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4675 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48861600	Strong transcription	Dnd41	blood
2	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
3	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:48738400-48818800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:48739600-48822200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:48778600-48838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:48778800-48818200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr8:48778800-48818800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr8:48779400-48815800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:48779800-48822200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:48780000-48822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:48782800-48832200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:48783800-48816200	Strong transcription	Liver	Liver
17	chr8:48784000-48816400	Strong transcription	Fetal Muscle Leg	muscle
18	chr8:48784000-48818600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:48784800-48817400	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:48785200-48859000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr8:48785400-48817800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr8:48785400-48819600	Strong transcription	Stomach Smooth Muscle	stomach
23	chr8:48785400-48826800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:48785400-48833000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:48785600-48819200	Strong transcription	Placenta	Placenta
26	chr8:48785600-48819400	Strong transcription	Osteobl	bone
27	chr8:48785800-48822200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr8:48785800-48832000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:48786000-48818000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:48786400-48833000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:48786600-48816800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:48788400-48817600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:48793800-48818200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:48793800-48819200	Strong transcription	Fetal Intestine Large	intestine
35	chr8:48793800-48819400	Strong transcription	Thymus	Thymus
36	chr8:48793800-48822200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:48793800-48822600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:48793800-48832200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:48793800-48870400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:48793800-48870800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:48794200-48818400	Strong transcription	Primary T cells from cord blood	blood
42	chr8:48794600-48816600	Strong transcription	NHEK	skin
43	chr8:48794800-48816800	Strong transcription	Left Ventricle	heart
44	chr8:48798000-48825200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr8:48799200-48818800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:48799200-48832000	Strong transcription	Primary B cells from cord blood	blood
47	chr8:48799400-48816400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:48800200-48816600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:48800600-48817800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:48800600-48818800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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