Variant report

Variant	nsv599371
Chromosome Location	chr5:111519018-111676755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1585)
CpG islands
(count:184)
Chromatin interactive
region (count:56)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1585 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:111554713-111554832	K562	blood:	n/a	n/a
2	ARID3A	chr5:111522150-111522361	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:111541703-111541923	K562	blood:	n/a	n/a
4	ARID3A	chr5:111522173-111522433	K562	blood:	n/a	n/a
5	ATF1	chr5:111531648-111531985	K562	blood:	n/a	n/a
6	ATF1	chr5:111553758-111554164	K562	blood:	n/a	n/a
7	ATF1	chr5:111537458-111537475	K562	blood:	n/a	n/a
8	ATF1	chr5:111544467-111544715	K562	blood:	n/a	n/a
9	ATF1	chr5:111575795-111576008	K562	blood:	n/a	n/a
10	ATF1	chr5:111541525-111541990	K562	blood:	n/a	n/a
11	ATF3	chr5:111564301-111564783	A549	lung:	n/a	n/a
12	BACH1	chr5:111606065-111606378	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr5:111606079-111606279	K562	blood:	n/a	n/a
14	BATF	chr5:111539023-111539310	GM12878	blood:	n/a	chr5:111539177-111539187 chr5:111539176-111539187
15	BATF	chr5:111539042-111539299	GM12878	blood:	n/a	chr5:111539177-111539187 chr5:111539176-111539187
16	BCL3	chr5:111627738-111628008	GM12878	blood:	n/a	n/a
17	BHLHE40	chr5:111672660-111672866	HepG2	liver:	n/a	chr5:111672779-111672800 chr5:111672784-111672793 chr5:111672783-111672796 chr5:111672785-111672794
18	BHLHE40	chr5:111541493-111541896	K562	blood:	n/a	n/a
19	BHLHE40	chr5:111535953-111536110	GM12878	blood:	n/a	n/a
20	BHLHE40	chr5:111665513-111665737	GM12878	blood:	n/a	n/a
21	BHLHE40	chr5:111553817-111554180	K562	blood:	n/a	n/a
22	BHLHE40	chr5:111540273-111540354	GM12878	blood:	n/a	n/a
23	BRCA1	chr5:111674313-111675097	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr5:111568288-111568814	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr5:111541423-111541542	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr5:111539964-111539969	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr5:111564352-111564918	Hela-S3	cervix:	n/a	n/a
28	CCNT2	chr5:111541670-111542021	K562	blood:	n/a	n/a
29	CCNT2	chr5:111553911-111554201	K562	blood:	n/a	chr5:111553994-111554014
30	CEBPB	chr5:111674424-111675026	K562	blood:	n/a	chr5:111674833-111674842 chr5:111674831-111674842 chr5:111674833-111674842 chr5:111674833-111674842 chr5:111674833-111674842
31	CEBPB	chr5:111674386-111675014	A549	lung:	n/a	chr5:111674833-111674842 chr5:111674831-111674842 chr5:111674833-111674842 chr5:111674833-111674842 chr5:111674833-111674842
32	CEBPB	chr5:111621897-111622074	HepG2	liver:	n/a	n/a
33	CEBPB	chr5:111674684-111675000	IMR90	lung:	n/a	chr5:111674833-111674842 chr5:111674831-111674842 chr5:111674833-111674842 chr5:111674833-111674842 chr5:111674833-111674842
34	CEBPB	chr5:111674335-111675109	ECC-1	luminal epithelium:	n/a	chr5:111674833-111674842 chr5:111674831-111674842 chr5:111674833-111674842 chr5:111674833-111674842 chr5:111674833-111674842
35	CEBPB	chr5:111564274-111564827	ECC-1	luminal epithelium:	n/a	n/a
36	CEBPB	chr5:111648588-111648889	IMR90	lung:	n/a	chr5:111648694-111648711 chr5:111648696-111648707
37	CEBPB	chr5:111586618-111586732	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr5:111648622-111648781	K562	blood:	n/a	chr5:111648694-111648711 chr5:111648696-111648707
39	CEBPB	chr5:111615165-111615277	HepG2	liver:	n/a	chr5:111615211-111615222
40	CEBPB	chr5:111674223-111675149	Hela-S3	cervix:	n/a	chr5:111674833-111674842 chr5:111674831-111674842 chr5:111674833-111674842 chr5:111674833-111674842 chr5:111674833-111674842
41	CEBPB	chr5:111648486-111648956	ECC-1	luminal epithelium:	n/a	chr5:111648694-111648711 chr5:111648696-111648707
42	CEBPB	chr5:111674221-111675111	ECC-1	luminal epithelium:	n/a	chr5:111674833-111674842 chr5:111674831-111674842 chr5:111674833-111674842 chr5:111674833-111674842 chr5:111674833-111674842
43	CEBPB	chr5:111544363-111544802	K562	blood:	n/a	chr5:111544614-111544625 chr5:111544614-111544625 chr5:111544614-111544627 chr5:111544614-111544627
44	CEBPB	chr5:111648572-111648903	A549	lung:	n/a	chr5:111648694-111648711 chr5:111648696-111648707
45	CEBPB	chr5:111674743-111674884	HepG2	liver:	n/a	chr5:111674833-111674842 chr5:111674831-111674842 chr5:111674833-111674842 chr5:111674833-111674842 chr5:111674833-111674842
46	CEBPB	chr5:111600406-111600751	Hela-S3	cervix:	n/a	chr5:111600558-111600569
47	CEBPB	chr5:111600418-111600726	IMR90	lung:	n/a	chr5:111600558-111600569
48	CEBPB	chr5:111622015-111622101	IMR90	lung:	n/a	n/a
49	CEBPB	chr5:111660737-111660943	IMR90	lung:	n/a	n/a
50	CEBPB	chr5:111674312-111675089	A549	lung:	n/a	chr5:111674833-111674842 chr5:111674831-111674842 chr5:111674833-111674842 chr5:111674833-111674842 chr5:111674833-111674842

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:111665548-111665598	ProgFib	skin:	n/a
2	chr5:111665548-111665598	ProgFib	skin:	n/a
3	chr5:111593187-111593237	AG09319	gingival:	n/a
4	chr5:111593187-111593237	HCM	heart:	n/a
5	chr5:111541635-111541685	HMEC	breast:	n/a
6	chr5:111665548-111665598	HMEC	breast:	n/a
7	chr5:111541635-111541685	U87	brain:	n/a
8	chr5:111541635-111541685	HRCEpiC	kidney:	n/a
9	chr5:111665548-111665598	CMK	blood:	n/a
10	chr5:111665548-111665598	NB4	blood:	n/a
11	chr5:111593187-111593237	K562	blood:	n/a
12	chr5:111541635-111541685	SK-N-MC	brain:	n/a
13	chr5:111593187-111593237	NHDF-neo	bronchial:	n/a
14	chr5:111541635-111541685	IMR90	lung:	fetal
15	chr5:111541635-111541685	HNPCEpiC	eye:	n/a
16	chr5:111541635-111541685	SK-N-SH_RA	brain:	n/a
17	chr5:111665548-111665598	BJ	skin:	n/a
18	chr5:111541635-111541685	A549	lung:	n/a
19	chr5:111593187-111593237	PFSK-1	brain:	n/a
20	chr5:111593187-111593237	SK-N-MC	brain:	n/a
21	chr5:111593187-111593237	IMR90	lung:	fetal
22	chr5:111593187-111593237	HepG2	liver:	n/a
23	chr5:111665548-111665598	NH-A	brain:	n/a
24	chr5:111593187-111593237	HCF	heart:	n/a
25	chr5:111593187-111593237	GM12892	blood:	n/a
26	chr5:111593187-111593237	HCPEpiC	choroid plexus:	n/a
27	chr5:111665548-111665598	BE2_C	brain:	n/a
28	chr5:111593187-111593237	HEEpiC	esophagus:	n/a
29	chr5:111541635-111541685	GM19239	blood:	n/a
30	chr5:111593187-111593237	NB4	blood:	n/a
31	chr5:111541635-111541685	HPAEpiC	pulmonary alveolar:	n/a
32	chr5:111593187-111593237	Hela-S3	cervix:	n/a
33	chr5:111541635-111541685	NHBE	bronchial:	n/a
34	chr5:111593187-111593237	BJ	skin:	n/a
35	chr5:111665548-111665598	HNPCEpiC	eye:	n/a
36	chr5:111593187-111593237	CMK	blood:	n/a
37	chr5:111665548-111665598	SAEC	small airway:	n/a
38	chr5:111593187-111593237	HL-60	blood:	n/a
39	chr5:111593187-111593237	ProgFib	skin:	n/a
40	chr5:111665548-111665598	HRE	kidney:	n/a
41	chr5:111665548-111665598	HCM	heart:	n/a
42	chr5:111593187-111593237	T-47D	breast:	n/a
43	chr5:111593187-111593237	Caco-2	colon:	n/a
44	chr5:111541635-111541685	RPTEC	kidney:	n/a
45	chr5:111593187-111593237	HRE	kidney:	n/a
46	chr5:111593187-111593237	HPAEpiC	pulmonary alveolar:	n/a
47	chr5:111541635-111541685	HCT-116	colon:	n/a
48	chr5:111593187-111593237	MCF10A-Er-Src	breast:	n/a
49	chr5:111593187-111593237	HAEpiC	amniotic membrane:	n/a
50	chr5:111593187-111593237	ovcar-3	ovarian:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:111500199..111502047-chr5:111605463..111607501,2	K562	blood:
2	chr5:111590915..111592513-chr5:111595143..111597882,2	K562	blood:
3	chr5:111616595..111618225-chr5:111620296..111621840,2	K562	blood:
4	chr5:111586727..111589187-chr5:111589233..111591104,2	K562	blood:
5	chr5:111552892..111554536-chr5:111555904..111558147,2	K562	blood:
6	chr5:111612813..111614888-chr5:111617919..111620566,2	MCF-7	breast:
7	chr5:111625117..111627783-chr5:111753976..111755871,2	MCF-7	breast:
8	chr17:39676917..39678673-chr5:111620221..111621741,2	MCF-7	breast:
9	chr5:111664622..111667062-chr5:111669246..111671249,2	K562	blood:
10	chr5:111552892..111554536-chr5:111555904..111558147,2	K562	blood:
11	chr5:111540327..111540866-chr8:53311824..53312642,2	MCF-7	breast:
12	chr5:111545812..111546719-chr5:111755708..111756545,3	MCF-7	breast:
13	chr5:111570748..111572939-chr5:111575269..111576914,2	K562	blood:
14	chr5:111642905..111645831-chr5:111648722..111651593,3	K562	blood:
15	chr5:111562024..111564609-chr5:133861458..133863356,2	MCF-7	breast:
16	chr5:111545913..111546803-chr5:111702693..111703411,4	MCF-7	breast:
17	chr5:111654503..111657162-chr5:111657627..111659825,2	K562	blood:
18	chr5:111638084..111640308-chr5:111646622..111650517,3	K562	blood:
19	chr5:111587415..111588930-chr5:111591870..111593534,2	K562	blood:
20	chr5:111629073..111631228-chr5:111635645..111639350,3	K562	blood:
21	chr5:111587450..111590273-chr5:111592333..111594588,2	K562	blood:
22	chr5:111496092..111497949-chr5:111522005..111524224,3	K562	blood:
23	chr5:111496092..111497611-chr5:111522005..111524224,2	K562	blood:
24	chr5:111514597..111516763-chr5:111520415..111522514,2	K562	blood:
25	chr5:111570748..111572939-chr5:111575269..111576914,2	K562	blood:
26	chr5:111545807..111546357-chr5:111755716..111756657,2	K562	blood:
27	chr5:111638084..111640308-chr5:111646622..111650517,3	K562	blood:
28	chr5:111586727..111589187-chr5:111589233..111591104,2	K562	blood:
29	chr5:111545569..111546326-chr5:111575265..111575942,2	MCF-7	breast:
30	chr5:111587450..111590273-chr5:111592333..111594588,2	K562	blood:
31	chr5:111629073..111631228-chr5:111635645..111639350,3	K562	blood:
32	chr5:111545649..111546314-chr5:111563458..111564367,2	MCF-7	breast:
33	chr5:111654503..111657162-chr5:111657627..111659825,2	K562	blood:
34	chr5:111612813..111614888-chr5:111617919..111620566,2	MCF-7	breast:
35	chr5:111496468..111499243-chr5:111522477..111524816,2	MCF-7	breast:
36	chr5:111545766..111546849-chr5:111755716..111756742,6	MCF-7	breast:
37	chr5:111676724..111678269-chr5:111678976..111680650,2	MCF-7	breast:
38	chr5:111573916..111574468-chr5:111707850..111708653,3	MCF-7	breast:
39	chr5:111576050..111577872-chr5:111578668..111581533,2	MCF-7	breast:
40	chr5:111625171..111625881-chr5:111755632..111756304,4	MCF-7	breast:
41	chr5:111576050..111577872-chr5:111578668..111581533,2	MCF-7	breast:
42	chr5:111587415..111588930-chr5:111591870..111593534,2	K562	blood:
43	chr5:111672466..111674712-chr5:111689508..111691131,2	K562	blood:
44	chr5:111501005..111502914-chr5:111519485..111522165,2	K562	blood:
45	chr5:111496502..111498084-chr5:111652901..111655234,2	MCF-7	breast:
46	chr5:111590915..111592513-chr5:111595143..111597882,2	K562	blood:
47	chr5:111580720..111582595-chr5:111754114..111755937,2	MCF-7	breast:
48	chr5:111545569..111546326-chr5:111575265..111575942,2	MCF-7	breast:
49	chr5:111526915..111528701-chr5:111529472..111532258,2	K562	blood:
50	chr5:111504901..111509125-chr5:111533307..111535722,3	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APC-4	chr5:111530296-111530356	ENSG00000251187.1
2	lnc-APC-4	chr5:111532368-111532693	ENSG00000251187.1
3	lnc-APC-4	chr5:111527717-111527917	ENSG00000251187.1
4	lnc-C5orf13-5	chr5:111615969-111616020	NONHSAT103225
5	lnc-APC-3	chr5:111586312-111586470	ENSG00000251076.1
6	lnc-APC-4	chr5:111540134-111540347	ENSG00000251187.1
7	lnc-APC-3	chr5:111563980-111564049	ENSG00000251076.1
8	lnc-APC-3	chr5:111585295-111585329	ENSG00000251076.1
9	lnc-APC-4	chr5:111545656-111545836	ENSG00000251187.1
10	lnc-C5orf13-5	chr5:111610936-111611101	NONHSAT103225
11	lnc-APC-3	chr5:111592560-111593006	ENSG00000251076.1
12	lnc-C5orf13-5	chr5:111643083-111643099	NONHSAT103225

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	EPB41L4A	hsa-miR-335-5p	chr5:111599854-111599879

Variant related genes	Relation type
EPB41L4A	TF binding region
ENSG00000251076	TF binding region
ENSG00000251187	TF binding region
EPB41L4A	CpG island
ENSG00000251076	CpG island
ENSG00000251187	CpG island
ENSG00000238363	chromatin interactions
ENSG00000268358	chromatin interactions
ENSG00000043143	chromatin interactions
ENSG00000251187	chromatin interactions
ENSG00000129595	chromatin interactions
ENSG00000171346	chromatin interactions
ENSG00000251076	chromatin interactions
ENSG00000224032	chromatin interactions

Extended variants
information (count: 6668 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:6668 , 50 per page) page: 1 2 3 4 5 6 7 ... 134

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1560054	chr5:111519018-111519019	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191783872	chr5:111519024-111519025	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs559968452	chr5:111519036-111519037	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537051868	chr5:111519115-111519116	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs558314560	chr5:111519143-111519144	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs115700536	chr5:111519162-111519163	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs1560055	chr5:111519204-111519205	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs542060650	chr5:111519210-111519211	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs148804671	chr5:111519229-111519230	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs574703535	chr5:111519246-111519247	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs542107692	chr5:111519252-111519253	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs183194254	chr5:111519284-111519285	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs140847632	chr5:111519285-111519286	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs188255963	chr5:111519323-111519324	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs190796750	chr5:111519346-111519347	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs1560056	chr5:111519353-111519354	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532616717	chr5:111519385-111519386	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs11948718	chr5:111519406-111519407	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182072983	chr5:111519423-111519424	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs1560057	chr5:111519458-111519459	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548425591	chr5:111519467-111519468	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs187842537	chr5:111519478-111519479	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537382370	chr5:111519485-111519486	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs78360405	chr5:111519493-111519494	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562114905	chr5:111519514-111519515	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs3797320	chr5:111519571-111519572	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192616992	chr5:111519628-111519629	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs151146994	chr5:111519634-111519635	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs3797319	chr5:111519639-111519640	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535643944	chr5:111519650-111519651	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs557236539	chr5:111519651-111519652	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs575480890	chr5:111519661-111519662	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs370309148	chr5:111519668-111519669	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs375933331	chr5:111519694-111519695	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs184642588	chr5:111519704-111519705	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs200134609	chr5:111519716-111519717	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs545808705	chr5:111519734-111519735	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs201759704	chr5:111519735-111519736	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs1560058	chr5:111519740-111519741	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs577184297	chr5:111519743-111519744	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs75508009	chr5:111519758-111519759	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs111958355	chr5:111519760-111519761	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs371978964	chr5:111519781-111519782	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs369257445	chr5:111519784-111519785	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs565853431	chr5:111519790-111519791	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs530179237	chr5:111519819-111519820	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs375281773	chr5:111519820-111519821	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs76446234	chr5:111519821-111519822	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs564382663	chr5:111519829-111519830	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs368833540	chr5:111519833-111519834	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Prostate cancer	22341455	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1338 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111497600-111538600	Weak transcription	Small Intestine	intestine
2	chr5:111501400-111546400	Weak transcription	Spleen	Spleen
3	chr5:111502400-111546400	Weak transcription	Aorta	Aorta
4	chr5:111502800-111546000	Weak transcription	Ovary	ovary
5	chr5:111503600-111527800	Weak transcription	Psoas Muscle	Psoas
6	chr5:111503600-111537400	Weak transcription	Lung	lung
7	chr5:111504800-111541400	Weak transcription	Right Ventricle	heart
8	chr5:111504800-111557800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:111504800-111586400	Weak transcription	Gastric	stomach
10	chr5:111505000-111521000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:111505000-111537400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:111505600-111521000	Weak transcription	Placenta	Placenta
13	chr5:111505600-111541800	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:111510800-111520600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:111510800-111540000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:111510800-111547400	Weak transcription	HUVEC	blood vessel
17	chr5:111511000-111520400	Weak transcription	Liver	Liver
18	chr5:111518400-111520600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:111518600-111519200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:111518600-111519600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:111518600-111519600	Enhancers	A549	lung
22	chr5:111518800-111519200	Enhancers	Pancreas	Pancrea
23	chr5:111518800-111519200	Enhancers	Right Atrium	heart
24	chr5:111518800-111519200	Enhancers	Stomach Mucosa	stomach
25	chr5:111518800-111519200	Flanking Active TSS	NHEK	skin
26	chr5:111518800-111519400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:111518800-111519400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:111518800-111519400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:111518800-111519400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:111518800-111519400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:111518800-111519400	Enhancers	Fetal Heart	heart
32	chr5:111518800-111519400	Genic enhancers	Left Ventricle	heart
33	chr5:111518800-111519600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:111518800-111519600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr5:111518800-111519600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr5:111518800-111519600	Strong transcription	Adipose Nuclei	Adipose
37	chr5:111518800-111519600	Enhancers	Brain Anterior Caudate	brain
38	chr5:111518800-111519600	Enhancers	NH-A	brain
39	chr5:111518800-111519800	Enhancers	Esophagus	oesophagus
40	chr5:111518800-111519800	Enhancers	HMEC	breast
41	chr5:111518800-111520600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:111519000-111519200	Enhancers	Fetal Kidney	kidney
43	chr5:111519000-111519400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr5:111519000-111519400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:111519000-111519400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr5:111519000-111519400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:111519000-111519400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:111519000-111519400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr5:111519000-111519400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:111519000-111519600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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