Variant report

Variant	nsv817285
Chromosome Location	chr5:104027759-104551555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1188)
CpG islands
(count:488)
Chromatin interactive
region (count:72)
LncRNA
region (count:47)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1188 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:104255114-104255149	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:104369169-104369636	K562	blood:	n/a	n/a
3	ATF1	chr5:104475478-104475496	K562	blood:	n/a	n/a
4	ATF1	chr5:104370024-104370214	K562	blood:	n/a	n/a
5	ATF1	chr5:104373680-104373755	K562	blood:	n/a	n/a
6	BACH1	chr5:104541248-104541265	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr5:104223199-104223207	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr5:104087746-104087944	GM12878	blood:	n/a	chr5:104087867-104087878
9	BATF	chr5:104087774-104088008	GM12878	blood:	n/a	chr5:104087867-104087878
10	BCL11A	chr5:104502865-104503067	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr5:104369418-104369675	K562	blood:	n/a	n/a
12	BRCA1	chr5:104246667-104246983	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr5:104317800-104317805	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr5:104325896-104325918	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr5:104488401-104488414	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr5:104393511-104393580	GM12878	blood:	n/a	n/a
17	CBX3	chr5:104393078-104393434	K562	blood:	n/a	n/a
18	CBX3	chr5:104393083-104393385	K562	blood:	n/a	n/a
19	CBX3	chr5:104370642-104370939	K562	blood:	n/a	n/a
20	CBX3	chr5:104428357-104428592	K562	blood:	n/a	n/a
21	CCNT2	chr5:104370115-104370461	K562	blood:	n/a	n/a
22	CCNT2	chr5:104306891-104307038	K562	blood:	n/a	n/a
23	CCNT2	chr5:104369421-104369754	K562	blood:	n/a	chr5:104369561-104369581
24	CEBPB	chr5:104370063-104370467	A549	lung:	n/a	chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364
25	CEBPB	chr5:104136225-104136497	HepG2	liver:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
26	CEBPB	chr5:104423410-104423746	IMR90	lung:	n/a	chr5:104423566-104423577
27	CEBPB	chr5:104370069-104370367	H1-hESC	embryonic stem cell:	n/a	chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364
28	CEBPB	chr5:104090393-104090670	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr5:104423406-104423707	A549	lung:	n/a	chr5:104423566-104423577
30	CEBPB	chr5:104136061-104136624	A549	lung:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
31	CEBPB	chr5:104475600-104475772	HepG2	liver:	n/a	n/a
32	CEBPB	chr5:104068408-104068610	HepG2	liver:	n/a	chr5:104068507-104068518
33	CEBPB	chr5:104437340-104437708	ECC-1	luminal epithelium:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
34	CEBPB	chr5:104136186-104136537	K562	blood:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
35	CEBPB	chr5:104195064-104195524	A549	lung:	n/a	chr5:104195252-104195263
36	CEBPB	chr5:104321962-104322422	MCF-7	breast:	n/a	n/a
37	CEBPB	chr5:104102501-104102787	A549	lung:	n/a	chr5:104102656-104102667
38	CEBPB	chr5:104136228-104136514	Hela-S3	cervix:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
39	CEBPB	chr5:104369987-104370554	Hela-S3	cervix:	n/a	chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364
40	CEBPB	chr5:104195080-104195455	K562	blood:	n/a	chr5:104195252-104195263
41	CEBPB	chr5:104136255-104136426	K562	blood:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
42	CEBPB	chr5:104369993-104370525	K562	blood:	n/a	chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364
43	CEBPB	chr5:104391872-104392206	HepG2	liver:	n/a	chr5:104392017-104392026 chr5:104392042-104392059 chr5:104392015-104392026 chr5:104392045-104392056
44	CEBPB	chr5:104369982-104370331	K562	blood:	n/a	n/a
45	CEBPB	chr5:104485759-104485906	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr5:104246629-104247018	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr5:104195135-104195333	K562	blood:	n/a	chr5:104195252-104195263
48	CEBPB	chr5:104370011-104370528	HepG2	liver:	n/a	chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364
49	CEBPB	chr5:104171648-104171720	HepG2	liver:	n/a	n/a
50	CEBPB	chr5:104437313-104437709	MCF-7	breast:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:104090236-104090286	HEK293	kidney:	embryo
2	chr5:104434827-104434877	AG04449	skin:	fetal
3	chr5:104265747-104265797	HUVEC	blood vessel:	n/a
4	chr5:104345171-104345221	BE2_C	brain:	n/a
5	chr5:104434864-104434914	Caco-2	colon:	n/a
6	chr5:104434864-104434914	PFSK-1	brain:	n/a
7	chr5:104434864-104434914	H1-hESC	embryonic stem cell:	embryo
8	chr5:104435062-104435112	T-47D	breast:	n/a
9	chr5:104345171-104345221	PrEC	prostate:	n/a
10	chr5:104345171-104345221	HRPEpiC	eye:	n/a
11	chr5:104434827-104434877	NT2-D1	testis:	n/a
12	chr5:104435062-104435112	HEEpiC	esophagus:	n/a
13	chr5:104434827-104434877	HRE	kidney:	n/a
14	chr5:104434864-104434914	U87	brain:	n/a
15	chr5:104434864-104434914	LNCaP	prostate:	n/a
16	chr5:104435062-104435112	GM19239	blood:	n/a
17	chr5:104435608-104435658	NT2-D1	testis:	n/a
18	chr5:104433849-104433899	MCF10A-Er-Src	breast:	n/a
19	chr5:104433849-104433899	NT2-D1	testis:	n/a
20	chr5:104434827-104434877	HCM	heart:	n/a
21	chr5:104435608-104435658	HPAEpiC	pulmonary alveolar:	n/a
22	chr5:104435608-104435658	AG09309	skin:	n/a
23	chr5:104435062-104435112	H1-hESC	embryonic stem cell:	embryo
24	chr5:104433849-104433899	HepG2	liver:	n/a
25	chr5:104433849-104433899	ECC-1	luminal epithelium:	n/a
26	chr5:104435608-104435658	CMK	blood:	n/a
27	chr5:104433849-104433899	HIPEpiC	eye:	n/a
28	chr5:104434827-104434877	HRPEpiC	eye:	n/a
29	chr5:104434827-104434877	ECC-1	luminal epithelium:	n/a
30	chr5:104435062-104435112	HNPCEpiC	eye:	n/a
31	chr5:104435608-104435658	RPTEC	kidney:	n/a
32	chr5:104265747-104265797	HPAEpiC	pulmonary alveolar:	n/a
33	chr5:104433849-104433899	CMK	blood:	n/a
34	chr5:104434827-104434877	HEK293	kidney:	embryo
35	chr5:104265747-104265797	HEEpiC	esophagus:	n/a
36	chr5:104265747-104265797	PFSK-1	brain:	n/a
37	chr5:104090236-104090286	PANC-1	pancreas:	n/a
38	chr5:104265747-104265797	GM06990	blood:	n/a
39	chr5:104090236-104090286	U87	brain:	n/a
40	chr5:104434827-104434877	MCF-7	breast:	n/a
41	chr5:104265747-104265797	GM12892	blood:	n/a
42	chr5:104433849-104433899	LNCaP	prostate:	n/a
43	chr5:104345171-104345221	BJ	skin:	n/a
44	chr5:104434864-104434914	HAEpiC	amniotic membrane:	n/a
45	chr5:104433849-104433899	AG10803	skin:	n/a
46	chr5:104265747-104265797	HRE	kidney:	n/a
47	chr5:104434864-104434914	SAEC	small airway:	n/a
48	chr5:104265747-104265797	ECC-1	luminal epithelium:	n/a
49	chr5:104434864-104434914	GM19239	blood:	n/a
50	chr5:104090236-104090286	Hepatocyte	liver:	n/a

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:104423554..104425423-chr5:104426738..104428780,3	K562	blood:
2	chr5:104545106..104548123-chr5:104549429..104551527,3	K562	blood:
3	chr5:104246978..104249905-chr5:104251799..104254646,2	MCF-7	breast:
4	chr5:104245189..104247786-chr5:104277262..104279951,2	MCF-7	breast:
5	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
6	chr5:104370391..104371902-chr5:104374539..104376562,2	K562	blood:
7	chr5:104370391..104373072-chr5:104374539..104377725,3	K562	blood:
8	chr5:104226367..104227906-chr5:104228376..104230821,2	MCF-7	breast:
9	chr5:104542507..104545042-chr5:104552566..104554250,2	K562	blood:
10	chr5:104540117..104542340-chr5:104543485..104546477,2	MCF-7	breast:
11	chr5:104512964..104515332-chr5:104570864..104572424,2	K562	blood:
12	chr5:104454743..104457659-chr5:104458109..104460411,2	MCF-7	breast:
13	chr5:104271936..104274851-chr5:104276428..104278480,3	MCF-7	breast:
14	chr5:104277822..104279427-chr5:104300449..104302157,2	MCF-7	breast:
15	chr5:104423554..104425423-chr5:104426738..104428780,3	K562	blood:
16	chr5:104256936..104259316-chr5:104275958..104278631,2	K562	blood:
17	chr5:104033301..104035974-chr5:104038075..104040842,2	MCF-7	breast:
18	chr5:104438251..104441149-chr5:104441695..104444269,2	K562	blood:
19	chr5:104226367..104227906-chr5:104228376..104230821,2	MCF-7	breast:
20	chr5:104482838..104485793-chr5:104489379..104492370,3	MCF-7	breast:
21	chr5:104438251..104441149-chr5:104441695..104444269,2	K562	blood:
22	chr5:104370391..104373072-chr5:104374539..104377725,3	K562	blood:
23	chr17:57921408..57924296-chr5:104291652..104294224,2	MCF-7	breast:
24	chr5:104296966..104298915-chr5:104301513..104303519,2	K562	blood:
25	chr5:103985280..103987996-chr5:104035377..104038063,2	MCF-7	breast:
26	chr5:104223049..104225474-chr5:104235768..104238593,2	MCF-7	breast:
27	chr5:104248370..104250240-chr5:104261197..104262793,2	MCF-7	breast:
28	chr5:104308244..104309781-chr5:104310392..104313289,2	K562	blood:
29	chr5:104086946..104088891-chr5:104090048..104092847,2	MCF-7	breast:
30	chr5:104256936..104259316-chr5:104275958..104278631,2	K562	blood:
31	chr12:23105697..23106553-chr5:104539343..104540254,2	MCF-7	breast:
32	chr5:104545961..104548123-chr5:104549429..104551527,2	K562	blood:
33	chr5:104270441..104272983-chr5:104273696..104275223,2	K562	blood:
34	chr5:104086946..104088891-chr5:104090048..104092847,2	MCF-7	breast:
35	chr5:104246978..104249905-chr5:104251799..104254646,2	MCF-7	breast:
36	chr5:104369743..104372595-chr5:104912590..104914639,2	K562	blood:
37	chr5:104234931..104236476-chr5:104238248..104241105,2	MCF-7	breast:
38	chr5:104524711..104526370-chr5:104889242..104892104,2	K562	blood:
39	chr5:104528561..104530726-chr5:104532311..104534213,2	K562	blood:
40	chr5:104248370..104250240-chr5:104261197..104262793,2	MCF-7	breast:
41	chr5:104302225..104304920-chr5:104306783..104309637,2	MCF-7	breast:
42	chr5:104545106..104548123-chr5:104549429..104551527,3	K562	blood:
43	chr5:104277822..104279427-chr5:104300449..104302157,2	MCF-7	breast:
44	chr5:104223049..104225474-chr5:104235768..104238593,2	MCF-7	breast:
45	chr5:104370391..104371902-chr5:104374539..104376562,2	K562	blood:
46	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
47	chr5:103812785..103815361-chr5:104049597..104051659,2	K562	blood:
48	chr17:57939158..57941470-chr5:104246724..104248724,2	MCF-7	breast:
49	chr5:104091669..104093962-chr5:104097846..104099466,2	MCF-7	breast:
50	chr5:104296966..104298915-chr5:104301513..104303519,2	K562	blood:

(count:47 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-5	chr5:104079393-104079555	ENSG00000251574
2	lnc-NUDT12-5	chr5:104109314-104109524	NONHSAT103088
3	lnc-NUDT12-5	chr5:104074955-104075113	ENSG00000251574
4	lnc-NUDT12-7	chr5:104253193-104253599	ENSG00000253584
5	lnc-C5orf30-8	chr5:104435174-104435799	NONHSAT103096
6	lnc-NUDT12-5	chr5:104109434-104109523	ENSG00000251574
7	lnc-NUDT12-7	chr5:104344562-104344618	ENSG00000253584
8	lnc-NUDT12-13	chr5:104103132-104103235	l_2988_chr5:104103131-104137422_testes
9	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
10	lnc-NUDT12-7	chr5:104311375-104311586	ENSG00000253584
11	lnc-NUDT12-5	chr5:104052350-104052364	NONHSAT103081
12	lnc-C5orf30-8	chr5:104435175-104435799	NR_000039
13	lnc-NUDT12-6	chr5:104246363-104246434	ENSG00000251574
14	lnc-NUDT12-5	chr5:104109314-104109492	ENSG00000251574
15	lnc-NUDT12-13	chr5:104118423-104118445	l_2988_chr5:104103131-104137422_testes
16	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
17	lnc-NUDT12-5	chr5:104109314-104109485	ENSG00000251574
18	lnc-NUDT12-5	chr5:104075198-104075242	ENSG00000251574
19	lnc-NUDT12-7	chr5:104315392-104315477	ENSG00000253584
20	lnc-NUDT12-5	chr5:104082242-104082310	ENSG00000251574
21	lnc-NUDT12-5	chr5:104080291-104080310	NONHSAT103088
22	lnc-NUDT12-5	chr5:104081064-104081147	NONHSAT103088
23	lnc-NUDT12-5	chr5:104072462-104072616	ENSG00000251574
24	lnc-NUDT12-5	chr5:104109314-104109361	ENSG00000251574
25	lnc-NUDT12-7	chr5:104344562-104344612	ENSG00000253584
26	lnc-NUDT12-5	chr5:104098981-104099084	NONHSAT103082
27	lnc-NUDT12-5	chr5:104098981-104099084	NONHSAT103081
28	lnc-NUDT12-5	chr5:104109434-104109524	NONHSAT103081
29	lnc-NUDT12-5	chr5:104074962-104075113	ENSG00000251574
30	lnc-NUDT12-5	chr5:104052350-104052364	NONHSAT103082
31	lnc-NUDT12-6	chr5:104222559-104222676	ENSG00000251574
32	lnc-NUDT12-5	chr5:104109314-104109397	ENSG00000251574
33	lnc-C5orf30-3	chr5:104109342-104109441	ENSG00000253776
34	lnc-NUDT12-5	chr5:104075198-104075336	ENSG00000251574
35	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
36	lnc-C5orf30-2	chr5:104079736-104079888	XLOC_004497
37	lnc-NUDT12-5	chr5:104074998-104075113	ENSG00000251574
38	lnc-NUDT12-13	chr5:104137254-104137422	l_2988_chr5:104103131-104137422_testes
39	lnc-NUDT12-7	chr5:104308988-104309359	ENSG00000253584
40	lnc-NUDT12-5	chr5:104109314-104109524	NONHSAT103082
41	lnc-C5orf30-3	chr5:104135007-104135473	ENSG00000253776
42	lnc-C5orf30-2	chr5:104098977-104099084	XLOC_004497
43	lnc-NUDT12-5	chr5:104098932-104099084	ENSG00000251574
44	lnc-NUDT12-5	chr5:104075198-104075336	ENSG00000251574
45	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
46	lnc-NUDT12-5	chr5:104079736-104079892	ENSG00000251574
47	lnc-NUDT12-6	chr5:104222559-104222676	ENSG00000251574

No data

Variant related genes	Relation type
ENSG00000253776	TF binding region
RNU6-334P	TF binding region
ENSG00000253584	TF binding region
ENSG00000251574	TF binding region
RAB9BP1	TF binding region
ENSG00000253776	CpG island
RNU6-334P	CpG island
ENSG00000253584	CpG island
ENSG00000251574	CpG island
RAB9BP1	CpG island
ENSG00000251574	chromatin interactions
CREB3L2	miRNA target sites

Extended variants
information (count: 6038 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:6038 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568671742	chr5:104033806-104033807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs369046602	chr5:104033822-104033823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs111249082	chr5:104033845-104033846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs367735552	chr5:104033861-104033862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs571253935	chr5:104033874-104033875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs554551110	chr5:104033878-104033879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs577261132	chr5:104033879-104033880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113599593	chr5:104033916-104033917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs546225366	chr5:104033947-104033948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs577663274	chr5:104033968-104033969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs112672923	chr5:104033989-104033990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs383152	chr5:104033990-104033991	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140094142	chr5:104033999-104034000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs141942283	chr5:104034046-104034047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs540135719	chr5:104034048-104034049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs373384151	chr5:104034059-104034060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs184036580	chr5:104034072-104034073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs73777494	chr5:104034073-104034074	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371229279	chr5:104034078-104034079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs551772225	chr5:104034083-104034084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs562576331	chr5:104034092-104034093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531289292	chr5:104034103-104034104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs410915	chr5:104034140-104034141	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564799543	chr5:104034174-104034175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186887509	chr5:104034189-104034190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs568557043	chr5:104034218-104034219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs534392645	chr5:104034219-104034220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs77569055	chr5:104034260-104034261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs571174491	chr5:104034266-104034267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs539812311	chr5:104034288-104034289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs556264328	chr5:104034290-104034291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs576419559	chr5:104034295-104034296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569542944	chr5:104034339-104034340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs535571014	chr5:104034349-104034350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs74415918	chr5:104034352-104034353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs574246920	chr5:104034361-104034362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs374069615	chr5:104034381-104034382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs540537109	chr5:104034445-104034446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs562329677	chr5:104034451-104034452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs559981964	chr5:104034477-104034478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs576749450	chr5:104034491-104034492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs191347572	chr5:104034538-104034539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs546112219	chr5:104034542-104034543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs79233107	chr5:104034584-104034585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs146307430	chr5:104034609-104034610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs547929093	chr5:104034617-104034618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs375209996	chr5:104034721-104034722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs561774225	chr5:104034741-104034742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs527850663	chr5:104034793-104034794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs548030641	chr5:104034799-104034800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104033800-104035000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:104033800-104035200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr5:104034000-104035200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:104034200-104035000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:104034800-104035200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr5:104035200-104036000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:104036200-104037000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:104040600-104041800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:104041000-104041600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:104041000-104041600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:104041200-104041600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:104041400-104042000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:104042000-104045800	Enhancers	HUVEC	blood vessel
14	chr5:104042400-104042800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:104043800-104044000	Enhancers	Rectal Smooth Muscle	rectum
16	chr5:104044800-104045000	Enhancers	Rectal Smooth Muscle	rectum
17	chr5:104049400-104049800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:104049800-104051200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:104051200-104053000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:104052000-104052600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:104065400-104065800	Enhancers	Rectal Smooth Muscle	rectum
22	chr5:104065800-104066200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:104065800-104067800	Enhancers	Fetal Lung	lung
24	chr5:104066200-104066400	Enhancers	Rectal Smooth Muscle	rectum
25	chr5:104066400-104067600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:104067200-104067600	Enhancers	Colon Smooth Muscle	Colon
27	chr5:104067600-104068200	Enhancers	Rectal Smooth Muscle	rectum
28	chr5:104067600-104069200	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:104068200-104068600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:104068600-104070200	Enhancers	Rectal Smooth Muscle	rectum
31	chr5:104069200-104070200	Enhancers	Colon Smooth Muscle	Colon
32	chr5:104089600-104090800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:104089800-104090000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:104089800-104090200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:104089800-104091200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:104089800-104091200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:104089800-104091200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:104089800-104091200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:104089800-104091400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:104090000-104090600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:104090000-104090600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr5:104090200-104090400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr5:104090200-104090600	Enhancers	Brain Germinal Matrix	brain
44	chr5:104090200-104091000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:104090400-104090800	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr5:104090600-104090800	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr5:104090800-104091000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr5:104091200-104092600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:104091400-104095000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:104095000-104095800	Enhancers	HUES64 Cell Line	embryonic stem cell

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