Variant report

Variant	nsv882202
Chromosome Location	chr5:74808417-74946455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1451)
CpG islands
(count:916)
Chromatin interactive
region (count:73)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1451 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:74915925-74916471	K562	blood:	n/a	n/a
2	ARID3A	chr5:74862715-74863894	K562	blood:	n/a	n/a
3	ARID3A	chr5:74904794-74905021	K562	blood:	n/a	n/a
4	ARID3A	chr5:74819121-74819443	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:74912064-74912380	K562	blood:	n/a	n/a
6	ARID3A	chr5:74913152-74913154	K562	blood:	n/a	n/a
7	ARID3A	chr5:74916424-74916742	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:74812604-74812638	K562	blood:	n/a	n/a
9	ARID3A	chr5:74814259-74814285	K562	blood:	n/a	n/a
10	ARID3A	chr5:74906446-74906556	K562	blood:	n/a	n/a
11	ARID3A	chr5:74903955-74904149	K562	blood:	n/a	n/a
12	ATF1	chr5:74912163-74912344	K562	blood:	n/a	n/a
13	ATF1	chr5:74863472-74863878	K562	blood:	n/a	n/a
14	ATF1	chr5:74862721-74863061	K562	blood:	n/a	n/a
15	ATF2	chr5:74871087-74871872	GM12878	blood:	n/a	n/a
16	ATF2	chr5:74862440-74863129	GM12878	blood:	n/a	n/a
17	ATF2	chr5:74944406-74945026	GM12878	blood:	n/a	n/a
18	ATF2	chr5:74819795-74820370	GM12878	blood:	n/a	n/a
19	ATF2	chr5:74819875-74820317	GM12878	blood:	n/a	n/a
20	ATF2	chr5:74870688-74871677	GM12878	blood:	n/a	n/a
21	ATF2	chr5:74807091-74808445	GM12878	blood:	n/a	n/a
22	ATF2	chr5:74862437-74863106	GM12878	blood:	n/a	n/a
23	ATF3	chr5:74863563-74863848	K562	blood:	n/a	n/a
24	ATF3	chr5:74862524-74863113	K562	blood:	n/a	n/a
25	ATF3	chr5:74944630-74944858	K562	blood:	n/a	n/a
26	BACH1	chr5:74862833-74862978	K562	blood:	n/a	chr5:74862884-74862898
27	BACH1	chr5:74863648-74863757	K562	blood:	n/a	n/a
28	BACH1	chr5:74889810-74889831	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr5:74907812-74907884	H1-hESC	embryonic stem cell:	n/a	n/a
30	BATF	chr5:74861931-74862138	GM12878	blood:	n/a	n/a
31	BATF	chr5:74862473-74863017	GM12878	blood:	n/a	n/a
32	BATF	chr5:74944597-74944931	GM12878	blood:	n/a	chr5:74944774-74944785 chr5:74944775-74944785
33	BATF	chr5:74871273-74871606	GM12878	blood:	n/a	n/a
34	BATF	chr5:74944508-74945014	GM12878	blood:	n/a	chr5:74944774-74944785 chr5:74944775-74944785
35	BATF	chr5:74822009-74822205	GM12878	blood:	n/a	n/a
36	BATF	chr5:74863505-74863889	GM12878	blood:	n/a	n/a
37	BATF	chr5:74819890-74820272	GM12878	blood:	n/a	chr5:74820117-74820127 chr5:74820113-74820123
38	BATF	chr5:74862521-74862990	GM12878	blood:	n/a	n/a
39	BATF	chr5:74864113-74864399	GM12878	blood:	n/a	n/a
40	BATF	chr5:74819848-74820276	GM12878	blood:	n/a	chr5:74820117-74820127 chr5:74820113-74820123
41	BATF	chr5:74870977-74871704	GM12878	blood:	n/a	n/a
42	BCL11A	chr5:74862544-74862992	GM12878	blood:	n/a	chr5:74862887-74862896 chr5:74862886-74862895
43	BCL11A	chr5:74884546-74884904	H1-hESC	embryonic stem cell:	n/a	n/a
44	BCL11A	chr5:74819918-74820233	GM12878	blood:	n/a	n/a
45	BCL11A	chr5:74871314-74871654	GM12878	blood:	n/a	chr5:74871486-74871495
46	BCL11A	chr5:74862509-74862941	GM12878	blood:	n/a	chr5:74862887-74862896 chr5:74862886-74862895
47	BCL11A	chr5:74944554-74944939	GM12878	blood:	n/a	n/a
48	BCL11A	chr5:74884618-74884817	H1-hESC	embryonic stem cell:	n/a	n/a
49	BCL11A	chr5:74871169-74871684	GM12878	blood:	n/a	chr5:74871486-74871495
50	BCL3	chr5:74861720-74862261	A549	lung:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:74904484-74904534	HL-60	blood:	n/a
2	chr5:74904484-74904534	HL-60	blood:	n/a
3	chr5:74910129-74910179	ECC-1	luminal epithelium:	n/a
4	chr5:74907124-74907174	HRPEpiC	eye:	n/a
5	chr5:74811445-74811495	IMR90	lung:	fetal
6	chr5:74907287-74907337	NHDF-neo	bronchial:	n/a
7	chr5:74907694-74907744	Jurkat	blood:	n/a
8	chr5:74907694-74907744	HAEpiC	amniotic membrane:	n/a
9	chr5:74811445-74811495	NB4	blood:	n/a
10	chr5:74907592-74907642	HIPEpiC	eye:	n/a
11	chr5:74904484-74904534	AG04449	skin:	fetal
12	chr5:74898460-74898510	HRPEpiC	eye:	n/a
13	chr5:74907694-74907744	NH-A	brain:	n/a
14	chr5:74908125-74908175	HEK293	kidney:	embryo
15	chr5:74833385-74833435	AG09319	gingival:	n/a
16	chr5:74913041-74913091	BE2_C	brain:	n/a
17	chr5:74862702-74862752	IMR90	lung:	fetal
18	chr5:74811445-74811495	U87	brain:	n/a
19	chr5:74908142-74908192	HCPEpiC	choroid plexus:	n/a
20	chr5:74907694-74907744	GM12891	blood:	n/a
21	chr5:74913041-74913091	MCF-7	breast:	n/a
22	chr5:74907287-74907337	GM12878	blood:	n/a
23	chr5:74907592-74907642	CMK	blood:	n/a
24	chr5:74910129-74910179	GM12878	blood:	n/a
25	chr5:74913041-74913091	CMK	blood:	n/a
26	chr5:74908125-74908175	HCPEpiC	choroid plexus:	n/a
27	chr5:74904484-74904534	NB4	blood:	n/a
28	chr5:74898460-74898510	HEEpiC	esophagus:	n/a
29	chr5:74910129-74910179	BJ	skin:	n/a
30	chr5:74862702-74862752	SKMC	muscle:	n/a
31	chr5:74907287-74907337	NT2-D1	testis:	n/a
32	chr5:74906150-74906200	Hepatocyte	liver:	n/a
33	chr5:74908142-74908192	HRCEpiC	kidney:	n/a
34	chr5:74811445-74811495	HRPEpiC	eye:	n/a
35	chr5:74910129-74910179	NB4	blood:	n/a
36	chr5:74904484-74904534	NT2-D1	testis:	n/a
37	chr5:74913041-74913091	IMR90	lung:	fetal
38	chr5:74907287-74907337	HUVEC	blood vessel:	n/a
39	chr5:74908125-74908175	AG09319	gingival:	n/a
40	chr5:74907287-74907337	Jurkat	blood:	n/a
41	chr5:74862702-74862752	GM12891	blood:	n/a
42	chr5:74898460-74898510	PANC-1	pancreas:	n/a
43	chr5:74908170-74908220	BE2_C	brain:	n/a
44	chr5:74811445-74811495	GM12892	blood:	n/a
45	chr5:74906150-74906200	ProgFib	skin:	n/a
46	chr5:74907287-74907337	ovcar-3	ovarian:	n/a
47	chr5:74908170-74908220	HEEpiC	esophagus:	n/a
48	chr5:74811445-74811495	HL-60	blood:	n/a
49	chr5:74898460-74898510	HL-60	blood:	n/a
50	chr5:74833385-74833435	U87	brain:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:74912858..74914560-chr5:74917246..74919606,2	K562	blood:
2	chr5:74880501..74881472-chr5:74976763..74977639,2	MCF-7	breast:
3	chr5:74793165..74795664-chr5:74814824..74817209,2	K562	blood:
4	chr5:74811981..74814673-chr5:74874113..74876597,2	K562	blood:
5	chr5:74845037..74847535-chr5:74848930..74850561,2	K562	blood:
6	chr5:74912024..74914449-chr5:74922011..74924010,2	K562	blood:
7	chr10:15412992..15413653-chr5:74896234..74896879,2	MCF-7	breast:
8	chr5:74852680..74855218-chr5:74864113..74866476,2	K562	blood:
9	chr5:74808217..74810593-chr5:74816041..74817596,2	K562	blood:
10	chr5:74915137..74917681-chr5:74948612..74950531,2	K562	blood:
11	chr5:74805305..74807843-chr5:74822655..74824255,2	MCF-7	breast:
12	chr5:74806025..74808781-chr5:74906137..74908952,2	MCF-7	breast:
13	chr5:74864380..74866848-chr5:75012223..75014112,2	K562	blood:
14	chr5:74889934..74892388-chr5:74899059..74901805,2	K562	blood:
15	chr5:74912024..74914449-chr5:74922011..74924010,2	K562	blood:
16	chr5:74919304..74922816-chr5:74930966..74933826,3	K562	blood:
17	chr5:74815294..74818982-chr5:74820247..74823584,4	K562	blood:
18	chr5:74933475..74935667-chr5:74961312..74963106,2	K562	blood:
19	chr5:74839175..74841677-chr5:74843205..74845206,2	K562	blood:
20	chr5:74828971..74830534-chr5:74850595..74852572,2	K562	blood:
21	chr5:74944742..74946556-chr5:74948688..74950561,2	MCF-7	breast:
22	chr5:74907136..74909579-chr5:74911861..74913808,3	K562	blood:
23	chr5:74868580..74871320-chr5:74902166..74903871,2	MCF-7	breast:
24	chr5:74806414..74809041-chr5:74824381..74827349,2	K562	blood:
25	chr5:74863361..74865877-chr5:74866045..74867591,2	MCF-7	breast:
26	chr5:74905446..74908420-chr5:74909324..74911813,2	MCF-7	breast:
27	chr5:74863361..74865877-chr5:74866045..74867591,2	MCF-7	breast:
28	chr5:74885603..74887138-chr5:74892522..74895230,2	K562	blood:
29	chr5:74868580..74871320-chr5:74902166..74903871,2	MCF-7	breast:
30	chr5:74820287..74822535-chr5:74827846..74830107,2	K562	blood:
31	chr5:74913060..74915078-chr5:74915803..74919443,3	K562	blood:
32	chr5:74880212..74881196-chr5:74962425..74963375,4	MCF-7	breast:
33	chr5:74808217..74810593-chr5:74816041..74817596,2	K562	blood:
34	chr5:74839175..74841677-chr5:74843205..74845206,2	K562	blood:
35	chr5:74818089..74820423-chr5:74844136..74846157,2	MCF-7	breast:
36	chr5:74889870..74892388-chr5:74899059..74901805,3	K562	blood:
37	chr5:74811101..74813110-chr5:74815287..74817345,2	K562	blood:
38	chr5:74819271..74821743-chr5:74831867..74834038,2	MCF-7	breast:
39	chr5:74915137..74918881-chr5:74947780..74950531,3	K562	blood:
40	chr5:74819271..74821743-chr5:74831867..74834038,2	MCF-7	breast:
41	chr5:74881366..74883122-chr5:74885074..74886574,2	K562	blood:
42	chr5:74910178..74911723-chr5:74917267..74920194,2	K562	blood:
43	chr5:74835008..74837584-chr5:74853567..74856265,2	K562	blood:
44	chr5:74913060..74915078-chr5:74915803..74919443,3	K562	blood:
45	chr5:74910178..74911723-chr5:74917267..74920194,2	K562	blood:
46	chr5:74912024..74914449-chr5:74921744..74924749,4	K562	blood:
47	chr5:74912858..74914560-chr5:74917246..74919606,2	K562	blood:
48	chr5:74828971..74830534-chr5:74850595..74852572,2	K562	blood:
49	chr5:74912024..74914449-chr5:74921744..74924749,4	K562	blood:
50	chr5:74880200..74881111-chr5:74976869..74977697,3	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKDD1B-2	chr5:74904642-74905808	ENSG00000272040.1
2	lnc-POC5-1	chr5:74894952-74895205	ENSG00000248881.1
3	lnc-POC5-4	chr5:74907701-74908056	NONHSAT102214
4	lnc-ANKDD1B-3	chr5:74893759-74893813	NONHSAT102210
5	lnc-ANKDD1B-1	chr5:74902446-74902775	XLOC_004431
6	lnc-ANKDD1B-3	chr5:74893572-74893865	NONHSAT102209
7	lnc-ANKDD1B-1	chr5:74906143-74906582	XLOC_004431
8	lnc-POC5-4	chr5:74907076-74907508	NONHSAT102214
9	lnc-ANKDD1B-3	chr5:74893242-74893614	NONHSAT102210
10	lnc-POC5-1	chr5:74894307-74894806	ENSG00000248881.1
11	lnc-ANKDD1B-4	chr5:74943057-74943408	ucscGeneNc_uc010izt_1
12	lnc-POLK-1	chr5:74931137-74931707	NONHSAT102215
13	lnc-ANKDD1B-3	chr5:74892939-74893003	NONHSAT102209

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	POLK	hsa-miR-132-3p	chr5:74878186-74878207
2	POLK	hsa-miR-30c-5p	chr5:74877682-74877705

Variant related genes	Relation type
POLK	TF binding region
ENSG00000272040	TF binding region
COL4A3BP	TF binding region
ANKDD1B	TF binding region
ENSG00000248881	TF binding region
RNU7-175P	TF binding region
POLK	CpG island
ENSG00000272040	CpG island
COL4A3BP	CpG island
ANKDD1B	CpG island
ENSG00000248881	CpG island
RNU7-175P	CpG island
ENSG00000189045	chromatin interactions
ENSG00000122008	chromatin interactions
ENSG00000148468	chromatin interactions
ENSG00000113163	chromatin interactions
ENSG00000248881	chromatin interactions
ENSG00000152359	chromatin interactions

Extended variants
information (count: 4792 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:4792 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5744545	chr5:74808417-74808418	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374238533	chr5:74808480-74808481	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372355010	chr5:74808554-74808555	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs138834180	chr5:74808580-74808581	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs375860111	chr5:74808582-74808583	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs555567255	chr5:74808589-74808590	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148870202	chr5:74808602-74808603	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200501337	chr5:74808605-74808606	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs550214294	chr5:74808668-74808669	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs193284420	chr5:74808672-74808673	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529412454	chr5:74808680-74808681	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs549171478	chr5:74808694-74808695	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs566305930	chr5:74808700-74808701	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs5744547	chr5:74808743-74808744	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567985874	chr5:74808744-74808745	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184215594	chr5:74808749-74808750	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs552077609	chr5:74808780-74808781	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs571830499	chr5:74808798-74808799	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs188346240	chr5:74808800-74808801	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs5744548	chr5:74808810-74808811	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs560622030	chr5:74808859-74808860	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs5744549	chr5:74808866-74808867	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs369681805	chr5:74808868-74808869	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs4604177	chr5:74808880-74808881	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs142804910	chr5:74809045-74809046	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs538985200	chr5:74809085-74809086	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs572292792	chr5:74809117-74809118	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs572250878	chr5:74809122-74809123	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs150652527	chr5:74809127-74809128	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs534873588	chr5:74809149-74809150	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs138780554	chr5:74809159-74809160	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs532177556	chr5:74809178-74809179	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs578015234	chr5:74809209-74809210	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs552488205	chr5:74809216-74809217	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs569205497	chr5:74809239-74809240	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs149369038	chr5:74809254-74809255	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs563684564	chr5:74809296-74809297	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs529298473	chr5:74809299-74809300	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs549503513	chr5:74809306-74809307	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs559573470	chr5:74809333-74809334	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs73764924	chr5:74809400-74809401	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572477613	chr5:74809422-74809423	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs551695147	chr5:74809451-74809452	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs184026697	chr5:74809452-74809453	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs537350419	chr5:74809471-74809472	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs550822442	chr5:74809491-74809492	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs139470455	chr5:74809520-74809521	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs115996876	chr5:74809595-74809596	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs558074336	chr5:74809596-74809597	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs555474730	chr5:74809639-74809640	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3510 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74804000-74809000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:74804600-74808600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:74804600-74809800	Active TSS	NHLF	lung
4	chr5:74804800-74809600	Active TSS	K562	blood
5	chr5:74805000-74808600	Active TSS	Fetal Stomach	stomach
6	chr5:74805000-74810200	Active TSS	GM12878-XiMat	blood
7	chr5:74805200-74808600	Active TSS	HSMMtube	muscle
8	chr5:74805200-74809000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:74805200-74809000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:74805200-74809000	Active TSS	NHDF-Ad	bronchial
11	chr5:74805200-74809400	Active TSS	Right Atrium	heart
12	chr5:74805400-74808600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:74805400-74808600	Active TSS	Fetal Intestine Large	intestine
14	chr5:74805400-74808600	Active TSS	Right Ventricle	heart
15	chr5:74805400-74808600	Active TSS	HMEC	breast
16	chr5:74805400-74809000	Active TSS	Ovary	ovary
17	chr5:74805400-74809200	Active TSS	HSMM	muscle
18	chr5:74805400-74809400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:74805600-74808600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr5:74805600-74808600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:74805600-74808600	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr5:74805600-74808600	Active TSS	Muscle Satellite Cultured Cells	--
23	chr5:74805600-74808600	Active TSS	Psoas Muscle	Psoas
24	chr5:74805600-74808800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:74805600-74808800	Active TSS	Aorta	Aorta
26	chr5:74805800-74808600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:74805800-74808600	Active TSS	Colonic Mucosa	Colon
28	chr5:74805800-74808600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr5:74805800-74808600	Active TSS	Fetal Muscle Trunk	muscle
30	chr5:74805800-74808800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:74805800-74808800	Active TSS	Stomach Smooth Muscle	stomach
32	chr5:74805800-74809000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr5:74806000-74808600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr5:74806000-74808600	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr5:74806000-74808600	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr5:74806000-74808600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr5:74806000-74808600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:74806000-74808600	Active TSS	Colon Smooth Muscle	Colon
39	chr5:74806000-74808600	Active TSS	Placenta	Placenta
40	chr5:74806000-74808600	Active TSS	Fetal Thymus	thymus
41	chr5:74806000-74808600	Active TSS	A549	lung
42	chr5:74806000-74808800	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr5:74806000-74809000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:74806200-74808600	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr5:74806200-74808600	Active TSS	Fetal Muscle Leg	muscle
46	chr5:74806200-74808600	Active TSS	Thymus	Thymus
47	chr5:74807000-74808600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:74807200-74809600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:74807400-74808600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:74807400-74808800	Active TSS	Brain Germinal Matrix	brain

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