Variant report

Variant	nsv1029595
Chromosome Location	chr5:112197662-112242375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:675)
CpG islands
(count:488)
Chromatin interactive
region (count:60)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:112197612-112198098	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:112235395-112235430	HepG2	liver:	n/a	n/a
3	ATF1	chr5:112214510-112214780	K562	blood:	n/a	n/a
4	ATF1	chr5:112218973-112219173	K562	blood:	n/a	n/a
5	ATF3	chr5:112214444-112214852	K562	blood:	n/a	n/a
6	BATF	chr5:112232114-112232476	GM12878	blood:	n/a	n/a
7	BHLHE40	chr5:112219050-112219237	K562	blood:	n/a	n/a
8	BHLHE40	chr5:112214495-112214855	K562	blood:	n/a	n/a
9	CCNT2	chr5:112214489-112214886	K562	blood:	n/a	n/a
10	CEBPB	chr5:112200935-112201156	H1-hESC	embryonic stem cell:	n/a	chr5:112201038-112201049
11	CEBPB	chr5:112211562-112211859	IMR90	lung:	n/a	n/a
12	CEBPB	chr5:112200972-112201113	A549	lung:	n/a	chr5:112201038-112201049
13	CEBPB	chr5:112239490-112239757	HepG2	liver:	n/a	chr5:112239582-112239593
14	CEBPB	chr5:112211579-112211792	A549	lung:	n/a	n/a
15	CEBPB	chr5:112239451-112239749	Hela-S3	cervix:	n/a	chr5:112239582-112239593
16	CEBPB	chr5:112206747-112207024	A549	lung:	n/a	n/a
17	CEBPB	chr5:112206707-112207052	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr5:112239436-112239730	K562	blood:	n/a	chr5:112239582-112239593
19	CEBPB	chr5:112239465-112239726	IMR90	lung:	n/a	chr5:112239582-112239593
20	CEBPB	chr5:112211566-112211873	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr5:112206740-112206978	HepG2	liver:	n/a	n/a
22	CEBPB	chr5:112200905-112201196	K562	blood:	n/a	chr5:112201038-112201049
23	CEBPB	chr5:112211644-112211870	K562	blood:	n/a	n/a
24	CEBPB	chr5:112218925-112219143	K562	blood:	n/a	n/a
25	CEBPB	chr5:112239455-112239749	A549	lung:	n/a	chr5:112239582-112239593
26	CEBPB	chr5:112200927-112201186	HepG2	liver:	n/a	chr5:112201038-112201049
27	CEBPB	chr5:112200882-112201173	IMR90	lung:	n/a	chr5:112201038-112201049
28	CEBPB	chr5:112212238-112212339	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr5:112232191-112232468	MCF-7	breast:	n/a	n/a
30	CEBPB	chr5:112211600-112211855	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPD	chr5:112218854-112219215	K562	blood:	n/a	n/a
32	CHD1	chr5:112196640-112197838	H1-hESC	embryonic stem cell:	n/a	chr5:112196847-112196856
33	CHD2	chr5:112212153-112212417	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr5:112232260-112232410	GM12878	blood:	n/a	n/a
35	CTCF	chr5:112232220-112232370	HFF-Myc	foreskin:	n/a	n/a
36	CTCF	chr5:112232240-112232390	AG10803	skin:	n/a	n/a
37	CTCF	chr5:112232333-112232378	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr5:112235360-112235510	BJ	skin:	n/a	n/a
39	CTCF	chr5:112232220-112232370	GM12870	blood:	n/a	n/a
40	CTCF	chr5:112232220-112232370	HVMF	connective:	n/a	n/a
41	CTCF	chr5:112232260-112232410	K562	blood:	n/a	n/a
42	CTCF	chr5:112232240-112232390	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr5:112235360-112235510	AG09319	gingival:	n/a	n/a
44	CTCF	chr5:112232200-112232350	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr5:112232220-112232370	GM12864	blood:	n/a	n/a
46	CTCF	chr5:112235440-112235590	HCM	heart:	n/a	n/a
47	CTCF	chr5:112235380-112235530	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr5:112232280-112232430	GM12865	blood:	n/a	n/a
49	CTCF	chr5:112235400-112235550	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr5:112232260-112232410	HRPEpiC	eye:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:112197930-112197980	HIPEpiC	eye:	n/a
2	chr5:112198022-112198072	Jurkat	blood:	n/a
3	chr5:112228461-112228511	GM19239	blood:	n/a
4	chr5:112198022-112198072	HCT-116	colon:	n/a
5	chr5:112197864-112197914	SAEC	small airway:	n/a
6	chr5:112228594-112228644	H1-hESC	embryonic stem cell:	embryo
7	chr5:112228594-112228644	AG10803	skin:	n/a
8	chr5:112198022-112198072	RPTEC	kidney:	n/a
9	chr5:112198022-112198072	PFSK-1	brain:	n/a
10	chr5:112203375-112203425	K562	blood:	n/a
11	chr5:112198022-112198072	HepG2	liver:	n/a
12	chr5:112197864-112197914	HAEpiC	amniotic membrane:	n/a
13	chr5:112199323-112199373	Jurkat	blood:	n/a
14	chr5:112198022-112198072	AG09319	gingival:	n/a
15	chr5:112203375-112203425	Hepatocyte	liver:	n/a
16	chr5:112203375-112203425	Jurkat	blood:	n/a
17	chr5:112203375-112203425	HMEC	breast:	n/a
18	chr5:112228657-112228707	NHBE	bronchial:	n/a
19	chr5:112228461-112228511	AG09309	skin:	n/a
20	chr5:112228594-112228644	AoSMC	blood vessel:	n/a
21	chr5:112198022-112198072	H1-hESC	embryonic stem cell:	embryo
22	chr5:112228594-112228644	PFSK-1	brain:	n/a
23	chr5:112228657-112228707	HCM	heart:	n/a
24	chr5:112199323-112199373	HNPCEpiC	eye:	n/a
25	chr5:112197930-112197980	MCF-7	breast:	n/a
26	chr5:112198022-112198072	Caco-2	colon:	n/a
27	chr5:112228657-112228707	SAEC	small airway:	n/a
28	chr5:112199323-112199373	HMEC	breast:	n/a
29	chr5:112228657-112228707	AG04450	lung:	fetal
30	chr5:112198022-112198072	HCM	heart:	n/a
31	chr5:112199323-112199373	RPTEC	kidney:	n/a
32	chr5:112228461-112228511	AG09319	gingival:	n/a
33	chr5:112228461-112228511	HPAEpiC	pulmonary alveolar:	n/a
34	chr5:112228594-112228644	AG04450	lung:	fetal
35	chr5:112198022-112198072	BJ	skin:	n/a
36	chr5:112228657-112228707	Jurkat	blood:	n/a
37	chr5:112228657-112228707	AG09309	skin:	n/a
38	chr5:112198022-112198072	IMR90	lung:	fetal
39	chr5:112197930-112197980	BE2_C	brain:	n/a
40	chr5:112228461-112228511	Hepatocyte	liver:	n/a
41	chr5:112203375-112203425	HEEpiC	esophagus:	n/a
42	chr5:112228461-112228511	H1-hESC	embryonic stem cell:	embryo
43	chr5:112197930-112197980	AG10803	skin:	n/a
44	chr5:112197930-112197980	GM12892	blood:	n/a
45	chr5:112197930-112197980	NHDF-neo	bronchial:	n/a
46	chr5:112198022-112198072	HMEC	breast:	n/a
47	chr5:112203375-112203425	GM12878	blood:	n/a
48	chr5:112203375-112203425	MCF10A-Er-Src	breast:	n/a
49	chr5:112228461-112228511	SK-N-SH_RA	brain:	n/a
50	chr5:112228461-112228511	A549	lung:	n/a

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:112196333..112202800-chr5:112202907..112207825,7	MCF-7	breast:
2	chr5:112152202..112156283-chr5:112195630..112198484,4	MCF-7	breast:
3	chr5:112195906..112198557-chr5:112198644..112200582,4	MCF-7	breast:
4	chr5:112196139..112198613-chr5:112233393..112236476,4	K562	blood:
5	chr5:112221269..112223827-chr5:112227698..112230274,2	K562	blood:
6	chr5:112206451..112208757-chr5:112210968..112212741,2	MCF-7	breast:
7	chr5:112195408..112199487-chr5:112199566..112202603,4	K562	blood:
8	chr5:112041853..112044653-chr5:112197378..112199089,2	K562	blood:
9	chr5:112223124..112224717-chr5:112225573..112227485,2	MCF-7	breast:
10	chr5:112220653..112223281-chr5:112223773..112226525,3	K562	blood:
11	chr5:112229577..112231459-chr5:112236387..112238018,2	MCF-7	breast:
12	chr5:112196670..112199465-chr5:112228539..112231018,2	K562	blood:
13	chr5:112213045..112215334-chr5:112215360..112217961,2	K562	blood:
14	chr5:112200900..112202532-chr5:112232608..112235513,2	K562	blood:
15	chr5:112197171..112198752-chr5:112310924..112312714,2	MCF-7	breast:
16	chr5:112213045..112215334-chr5:112215360..112217961,2	K562	blood:
17	chr5:112202949..112204762-chr5:112314290..112317071,2	MCF-7	breast:
18	chr5:112210185..112212366-chr5:112214528..112217503,2	K562	blood:
19	chr5:112199613..112201992-chr5:112222873..112225577,2	K562	blood:
20	chr5:112195408..112199487-chr5:112199566..112202603,4	K562	blood:
21	chr5:112195538..112198310-chr5:112312375..112313895,2	K562	blood:
22	chr5:112214521..112217440-chr5:112219552..112222525,2	MCF-7	breast:
23	chr5:112210185..112212366-chr5:112214528..112217503,2	K562	blood:
24	chr5:112201095..112203323-chr5:112277431..112279323,2	K562	blood:
25	chr5:112194408..112196977-chr5:112198175..112200544,3	MCF-7	breast:
26	chr5:112238408..112240377-chr5:112318483..112320645,2	K562	blood:
27	chr5:112195332..112197808-chr5:112240725..112243513,2	K562	blood:
28	chr5:112197996..112200677-chr5:112212037..112214219,2	K562	blood:
29	chr5:112211665..112213695-chr5:112223485..112225532,2	K562	blood:
30	chr5:112225010..112227732-chr5:112311163..112313003,2	K562	blood:
31	chr5:112196522..112198362-chr5:112219263..112221236,2	MCF-7	breast:
32	chr5:112213405..112216248-chr5:112216805..112218995,2	K562	blood:
33	chr5:112214124..112215918-chr5:112256466..112258811,2	MCF-7	breast:
34	chr5:112204419..112206839-chr5:112213966..112216300,2	K562	blood:
35	chr5:112196139..112198613-chr5:112233393..112236476,4	K562	blood:
36	chr5:112234648..112237093-chr5:112238593..112241532,2	K562	blood:
37	chr5:112229105..112231564-chr5:112256009..112258074,2	K562	blood:
38	chr5:112195332..112197808-chr5:112240725..112243513,2	K562	blood:
39	chr5:112213405..112216248-chr5:112216805..112218995,2	K562	blood:
40	chr5:112206451..112208757-chr5:112210968..112212741,2	MCF-7	breast:
41	chr5:112195239..112200315-chr5:112255126..112261929,8	MCF-7	breast:
42	chr5:112202124..112203911-chr5:112204966..112207266,2	K562	blood:
43	chr5:112196028..112199860-chr5:112256680..112260462,5	MCF-7	breast:
44	chr5:112220061..112222153-chr5:112223773..112225820,2	K562	blood:
45	chr5:112211665..112213695-chr5:112223485..112225532,2	K562	blood:
46	chr5:112200124..112202418-chr5:112211371..112213575,2	MCF-7	breast:
47	chr5:112203523..112205062-chr5:112311681..112313579,2	K562	blood:
48	chr5:112199637..112202533-chr5:112210303..112212318,2	MCF-7	breast:
49	chr5:112196983..112197664-chr5:112257709..112258331,2	Hela-S3	cervix:
50	chr5:112196670..112199465-chr5:112228539..112231018,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZRSR1-1	chr5:112229030-112229698	ENSG00000270067.1
2	lnc-ZRSR1-3	chr5:112220791-112221442	NONHSAT103249
3	lnc-ZRSR1-2	chr5:112233720-112234068	ENSG00000272389.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	REEP5	hsa-miR-17-5p	chr5:112214296-112214318

Variant related genes	Relation type
XBP1P1	TF binding region
ENSG00000272389	TF binding region
ZRSR1	TF binding region
ENSG00000272869	TF binding region
SRP19	TF binding region
ENSG00000270067	TF binding region
ENSG00000266499	TF binding region
XBP1P1	CpG island
ENSG00000272389	CpG island
ZRSR1	CpG island
ENSG00000272869	CpG island
SRP19	CpG island
ENSG00000270067	CpG island
ENSG00000266499	CpG island
ENSG00000266499	chromatin interactions
ENSG00000272389	chromatin interactions
ENSG00000153037	chromatin interactions
ENSG00000172795	chromatin interactions
ENSG00000129625	chromatin interactions
ENSG00000212643	chromatin interactions
ENSG00000270067	chromatin interactions
ENSG00000272869	chromatin interactions
ENSG00000134982	chromatin interactions
ENSG00000249947	chromatin interactions

Extended variants
information (count: 1968 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1968 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376159953	chr5:112197711-112197712	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs545708299	chr5:112197735-112197736	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs113568499	chr5:112197820-112197821	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs544680472	chr5:112197848-112197849	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs560579375	chr5:112197856-112197857	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs76105935	chr5:112197889-112197890	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs114612677	chr5:112197897-112197898	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs542974511	chr5:112197921-112197922	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs35591310	chr5:112197937-112197938	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs431287	chr5:112197986-112197987	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs561090905	chr5:112197993-112197994	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs576291187	chr5:112197998-112197999	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs546810424	chr5:112198001-112198002	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs372492	chr5:112198015-112198016	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs367716145	chr5:112198036-112198037	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs549450649	chr5:112198056-112198057	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs112093457	chr5:112198072-112198073	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs202017732	chr5:112198073-112198074	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs74697091	chr5:112198074-112198075	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs529955773	chr5:112198075-112198076	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs565177312	chr5:112198113-112198114	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs532403559	chr5:112198123-112198124	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs372217540	chr5:112198127-112198128	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs116245084	chr5:112198128-112198129	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs560592915	chr5:112198132-112198133	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs368648697	chr5:112198174-112198175	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs113556690	chr5:112198179-112198180	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs371808334	chr5:112198187-112198188	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs201250324	chr5:112198206-112198207	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs77541650	chr5:112198213-112198214	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs139481019	chr5:112198221-112198222	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs201980704	chr5:112198243-112198244	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs149666002	chr5:112198269-112198270	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs367947331	chr5:112198272-112198273	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs145534748	chr5:112198273-112198274	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs201109424	chr5:112198275-112198276	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs199762246	chr5:112198276-112198277	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs375815815	chr5:112198300-112198301	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs141744765	chr5:112198319-112198320	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs150555680	chr5:112198344-112198345	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs59063648	chr5:112198347-112198348	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559723808	chr5:112198398-112198399	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs76897168	chr5:112198445-112198446	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs149333359	chr5:112198461-112198462	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs565874307	chr5:112198471-112198472	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs536542827	chr5:112198476-112198477	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs548408642	chr5:112198487-112198488	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs111276329	chr5:112198491-112198492	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs141073809	chr5:112198502-112198503	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs372160847	chr5:112198507-112198508	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Lung cancer	20668451	CNVD
adenomatous polyposis	20649969	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	22014273	CNVD
Colorectal cancer	23471846	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sezary syndrome	18413736	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:2033 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112196000-112198000	Active TSS	GM12878-XiMat	blood
2	chr5:112196200-112197800	Active TSS	Brain Angular Gyrus	brain
3	chr5:112196200-112197800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr5:112196200-112197800	Active TSS	Rectal Smooth Muscle	rectum
5	chr5:112196200-112198200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr5:112196200-112198200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:112196400-112197800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr5:112196400-112197800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:112196400-112197800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:112196400-112197800	Active TSS	Colonic Mucosa	Colon
11	chr5:112196400-112197800	Active TSS	Fetal Brain Female	brain
12	chr5:112196400-112197800	Active TSS	Placenta	Placenta
13	chr5:112196400-112197800	Active TSS	Fetal Stomach	stomach
14	chr5:112196400-112197800	Active TSS	Gastric	stomach
15	chr5:112196400-112197800	Active TSS	Ovary	ovary
16	chr5:112196400-112197800	Active TSS	Psoas Muscle	Psoas
17	chr5:112196400-112198000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr5:112196400-112198000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr5:112196400-112198000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr5:112196400-112198000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr5:112196400-112198000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:112196400-112198000	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr5:112196400-112198000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:112196400-112198000	Active TSS	Aorta	Aorta
25	chr5:112196400-112198000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr5:112196400-112198000	Active TSS	Esophagus	oesophagus
27	chr5:112196400-112198000	Active TSS	Fetal Kidney	kidney
28	chr5:112196400-112198000	Active TSS	Lung	lung
29	chr5:112196400-112198000	Active TSS	Right Atrium	heart
30	chr5:112196400-112198000	Active TSS	NHDF-Ad	bronchial
31	chr5:112196400-112198200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:112196400-112198200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr5:112196400-112198200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:112196400-112198200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:112196400-112198200	Active TSS	HSMM	muscle
36	chr5:112196400-112198200	Active TSS	HSMMtube	muscle
37	chr5:112196400-112198400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:112196400-112198400	Active TSS	Pancreas	Pancrea
39	chr5:112196400-112198600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr5:112196400-112198600	Active TSS	Right Ventricle	heart
41	chr5:112196600-112197800	Active TSS	Colon Smooth Muscle	Colon
42	chr5:112196600-112197800	Active TSS	Fetal Muscle Trunk	muscle
43	chr5:112196600-112197800	Active TSS	Left Ventricle	heart
44	chr5:112196600-112197800	Active TSS	Placenta Amnion	Placenta Amnion
45	chr5:112196600-112197800	Active TSS	Stomach Smooth Muscle	stomach
46	chr5:112196600-112197800	Active TSS	Thymus	Thymus
47	chr5:112196600-112197800	Active TSS	Spleen	Spleen
48	chr5:112196600-112198000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:112196600-112198000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:112196600-112198000	Active TSS	Fetal Intestine Large	intestine

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