Variant report

Variant	nsv541870
Chromosome Location	chr13:90509098-91497974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4481)
CpG islands
(count:794)
Chromatin interactive
region (count:441)
LncRNA
region (count:55)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:4481 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:90733837-90733909	K562	blood:	n/a	n/a
2	ARID3A	chr13:90512718-90512791	K562	blood:	n/a	n/a
3	ARID3A	chr13:90577420-90577637	HepG2	liver:	n/a	n/a
4	ARID3A	chr13:90749033-90749172	K562	blood:	n/a	n/a
5	ARID3A	chr13:90926329-90926406	K562	blood:	n/a	n/a
6	ARID3A	chr13:90520785-90520820	K562	blood:	n/a	n/a
7	ARID3A	chr13:90764747-90764925	K562	blood:	n/a	n/a
8	ARID3A	chr13:90551614-90552641	HepG2	liver:	n/a	n/a
9	ARID3A	chr13:90682174-90682341	K562	blood:	n/a	n/a
10	ARID3A	chr13:90585014-90585385	HepG2	liver:	n/a	n/a
11	ARID3A	chr13:90585018-90585218	K562	blood:	n/a	n/a
12	ARID3A	chr13:90720372-90720449	K562	blood:	n/a	n/a
13	ARID3A	chr13:90783636-90783652	K562	blood:	n/a	n/a
14	ARID3A	chr13:90723185-90723815	HepG2	liver:	n/a	n/a
15	ARID3A	chr13:90798775-90798825	K562	blood:	n/a	n/a
16	ARID3A	chr13:90644313-90644329	K562	blood:	n/a	n/a
17	ARID3A	chr13:90625281-90625544	K562	blood:	n/a	n/a
18	ATF1	chr13:91446628-91446734	K562	blood:	n/a	n/a
19	ATF1	chr13:90707883-90708575	K562	blood:	n/a	n/a
20	ATF1	chr13:90620724-90621483	K562	blood:	n/a	n/a
21	ATF1	chr13:90731189-90731218	K562	blood:	n/a	n/a
22	ATF1	chr13:90685864-90686469	K562	blood:	n/a	n/a
23	ATF1	chr13:90786453-90786660	K562	blood:	n/a	n/a
24	ATF1	chr13:90838752-90838825	K562	blood:	n/a	n/a
25	ATF1	chr13:90846329-90846695	K562	blood:	n/a	n/a
26	ATF1	chr13:91435863-91435882	K562	blood:	n/a	n/a
27	ATF1	chr13:90563357-90563940	K562	blood:	n/a	n/a
28	ATF1	chr13:90966644-90966898	K562	blood:	n/a	n/a
29	ATF1	chr13:90691066-90691404	K562	blood:	n/a	n/a
30	ATF1	chr13:90729840-90730040	K562	blood:	n/a	n/a
31	ATF1	chr13:90778489-90779075	K562	blood:	n/a	n/a
32	ATF1	chr13:90719525-90719997	K562	blood:	n/a	n/a
33	ATF1	chr13:90653786-90654041	K562	blood:	n/a	n/a
34	ATF1	chr13:90849252-90849459	K562	blood:	n/a	n/a
35	ATF1	chr13:90631035-90631225	K562	blood:	n/a	n/a
36	ATF1	chr13:90862596-90862633	K562	blood:	n/a	n/a
37	ATF1	chr13:90549520-90549719	K562	blood:	n/a	n/a
38	ATF1	chr13:90697158-90697333	K562	blood:	n/a	n/a
39	ATF1	chr13:91194574-91194600	K562	blood:	n/a	n/a
40	ATF1	chr13:91015211-91015331	K562	blood:	n/a	n/a
41	ATF1	chr13:91338987-91339075	K562	blood:	n/a	n/a
42	ATF1	chr13:90607751-90608272	K562	blood:	n/a	n/a
43	ATF1	chr13:90718299-90718552	K562	blood:	n/a	n/a
44	ATF1	chr13:90803934-90804073	K562	blood:	n/a	n/a
45	ATF1	chr13:90834745-90835131	K562	blood:	n/a	n/a
46	ATF1	chr13:90774717-90774782	K562	blood:	n/a	n/a
47	ATF1	chr13:91313404-91313444	K562	blood:	n/a	n/a
48	ATF1	chr13:90965585-90966194	K562	blood:	n/a	n/a
49	ATF1	chr13:90673006-90673202	K562	blood:	n/a	n/a
50	ATF1	chr13:90817824-90817836	K562	blood:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:90557520-90557570	HCT-116	colon:	n/a
2	chr13:90557520-90557570	HCT-116	colon:	n/a
3	chr13:91370196-91370246	HL-60	blood:	n/a
4	chr13:91148255-91148305	HEEpiC	esophagus:	n/a
5	chr13:91049886-91049936	ProgFib	skin:	n/a
6	chr13:90536270-90536320	AG09319	gingival:	n/a
7	chr13:91148255-91148305	NH-A	brain:	n/a
8	chr13:91147145-91147195	AG10803	skin:	n/a
9	chr13:90536270-90536320	U87	brain:	n/a
10	chr13:90557520-90557570	HAEpiC	amniotic membrane:	n/a
11	chr13:91049886-91049936	HIPEpiC	eye:	n/a
12	chr13:91370196-91370246	GM12892	blood:	n/a
13	chr13:91370196-91370246	SK-N-MC	brain:	n/a
14	chr13:90536270-90536320	HNPCEpiC	eye:	n/a
15	chr13:91148255-91148305	K562	blood:	n/a
16	chr13:90661319-90661369	NB4	blood:	n/a
17	chr13:91147296-91147346	NT2-D1	testis:	n/a
18	chr13:91067121-91067171	HPAEpiC	pulmonary alveolar:	n/a
19	chr13:91370196-91370246	AG09309	skin:	n/a
20	chr13:91370196-91370246	HCF	heart:	n/a
21	chr13:91147145-91147195	HEK293	kidney:	embryo
22	chr13:90536270-90536320	ECC-1	luminal epithelium:	n/a
23	chr13:91145493-91145543	SKMC	muscle:	n/a
24	chr13:90557520-90557570	Caco-2	colon:	n/a
25	chr13:90661319-90661369	PFSK-1	brain:	n/a
26	chr13:91370196-91370246	RPTEC	kidney:	n/a
27	chr13:91444330-91444380	SKMC	muscle:	n/a
28	chr13:91444330-91444380	ovcar-3	ovarian:	n/a
29	chr13:90557520-90557570	HEK293	kidney:	embryo
30	chr13:90536270-90536320	HCPEpiC	choroid plexus:	n/a
31	chr13:91148255-91148305	NT2-D1	testis:	n/a
32	chr13:91147145-91147195	AG04449	skin:	fetal
33	chr13:90557520-90557570	GM12892	blood:	n/a
34	chr13:90557520-90557570	HEEpiC	esophagus:	n/a
35	chr13:91049886-91049936	AG04449	skin:	fetal
36	chr13:90536270-90536320	Jurkat	blood:	n/a
37	chr13:91145493-91145543	SAEC	small airway:	n/a
38	chr13:91145493-91145543	HMEC	breast:	n/a
39	chr13:91147296-91147346	HCF	heart:	n/a
40	chr13:91145493-91145543	Caco-2	colon:	n/a
41	chr13:91147145-91147195	HRE	kidney:	n/a
42	chr13:91148429-91148479	PrEC	prostate:	n/a
43	chr13:91370196-91370246	HAEpiC	amniotic membrane:	n/a
44	chr13:91001297-91001347	HEEpiC	esophagus:	n/a
45	chr13:91001297-91001347	MCF-7	breast:	n/a
46	chr13:91370196-91370246	AoSMC	blood vessel:	n/a
47	chr13:91147296-91147346	A549	lung:	n/a
48	chr13:90536270-90536320	ProgFib	skin:	n/a
49	chr13:91147296-91147346	PrEC	prostate:	n/a
50	chr13:90661319-90661369	PANC-1	pancreas:	n/a

(count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Distal block	Cell Line	Cell type
1	chr13:90583689..90586717-chr17:41462129..41467972,24	K562	blood:
2	chr13:91058175..91060023-chr13:91060025..91062896,2	K562	blood:
3	chr13:90505837..90509625-chr13:90510722..90514871,5	K562	blood:
4	chr13:91008774..91011603-chr13:91011621..91013746,2	K562	blood:
5	chr13:91274398..91275948-chr13:91280983..91283052,2	K562	blood:
6	chr13:91067650..91070177-chr13:91643740..91645578,2	K562	blood:
7	chr13:90706547..90709956-chr13:90713211..90716180,4	K562	blood:
8	chr13:90928129..90929785-chr13:90931330..90933732,2	K562	blood:
9	chr13:90759395..90761976-chr13:90768337..90771167,3	K562	blood:
10	chr13:91342678..91345589-chr13:91346881..91348759,2	MCF-7	breast:
11	chr13:90567117..90569538-chr13:90570624..90572320,2	K562	blood:
12	chr13:90760884..90762558-chr13:90777386..90780002,2	K562	blood:
13	chr13:90539319..90541574-chr13:91998332..92001318,2	K562	blood:
14	chr13:91086165..91089300-chr13:91090089..91093260,3	K562	blood:
15	chr13:91323079..91326150-chr13:91335994..91339499,3	K562	blood:
16	chr13:91294499..91296601-chr13:91299177..91301088,2	K562	blood:
17	chr13:90583689..90585208-chr17:41444061..41445919,3	K562	blood:
18	chr13:91413147..91415643-chr13:91425089..91427467,2	K562	blood:
19	chr13:91349243..91351588-chr13:91352748..91354273,2	K562	blood:
20	chr13:91303833..91306037-chr22:30783164..30785871,2	K562	blood:
21	chr13:90974649..90977371-chr13:90984273..90986180,2	K562	blood:
22	chr13:91307917..91309569-chr13:91315181..91318048,2	K562	blood:
23	chr11:62609120..62610720-chr13:90583687..90586690,7	MCF-7	breast:
24	chr13:91247262..91250032-chr13:91253392..91255538,2	K562	blood:
25	chr13:91294499..91296601-chr13:91299177..91301088,2	K562	blood:
26	chr13:91276969..91279792-chr13:91280737..91282737,3	K562	blood:
27	chr13:90686920..90689377-chr13:90707957..90709473,2	K562	blood:
28	chr13:91113981..91115766-chr13:91117450..91119900,2	K562	blood:
29	chr13:90687289..90689665-chr13:90743498..90745958,2	K562	blood:
30	chr13:91268736..91270615-chr13:91276203..91277710,2	K562	blood:
31	chr13:90645856..90648363-chr13:90649995..90652582,2	K562	blood:
32	chr13:90716984..90718514-chr13:90738626..90741620,2	K562	blood:
33	chr13:91410394..91411961-chr13:91412621..91414256,2	K562	blood:
34	chr13:90584692..90585216-chr5:32541862..32542382,2	HCT-116	colon:
35	chr13:91484251..91485979-chr13:91485987..91488244,2	MCF-7	breast:
36	chr13:90875402..90877312-chr13:90877862..90879881,2	K562	blood:
37	chr13:91413147..91415643-chr13:91425089..91427467,2	K562	blood:
38	chr13:91307917..91312962-chr13:91313726..91317550,4	K562	blood:
39	chr13:90782584..90784646-chr13:90789833..90791360,2	K562	blood:
40	chr13:90585211..90585713-chr17:41465718..41466279,2	MCF-7	breast:
41	chr13:91124028..91126671-chr13:91137594..91140564,2	K562	blood:
42	chr13:90503021..90505248-chr13:90522528..90525027,2	K562	blood:
43	chr13:91265357..91267336-chr13:91271195..91274409,3	K562	blood:
44	chr13:90497518..90499702-chr13:90509556..90511719,2	K562	blood:
45	chr1:160082466..160083968-chr13:90583692..90585197,2	K562	blood:
46	chr13:91424801..91427425-chr13:91432688..91434340,2	K562	blood:
47	chr13:90559611..90562586-chr13:90563397..90565407,2	K562	blood:
48	chr13:90583688..90586717-chr17:41462314..41468297,22	MCF-7	breast:
49	chr13:90583689..90585216-chr17:41559579..41561297,2	K562	blood:
50	chr10:119001200..119002700-chr13:90585187..90586694,2	MCF-7	breast:

(count:55 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-28	chr13:90580934-90581047	NONHSAT034639
2	lnc-DCT-10	chr13:90718982-90719064	NONHSAT034642
3	lnc-SLITRK6-28	chr13:90577868-90578113	NONHSAT034638
4	lnc-GPC5-9	chr13:90823120-90824053	NONHSAT034646
5	lnc-GPC5-3	chr13:91145542-91145671	XLOC_010469
6	lnc-DCT-10	chr13:90712501-90712866	NONHSAT034642
7	lnc-GPC5-10	chr13:90800411-90800481	ucscGeneNc_uc001vlq_1
8	lnc-GPC5-3	chr13:91179654-91179752	ENSG00000234384
9	lnc-DCT-10	chr13:90731381-90731516	NONHSAT034642
10	lnc-SLITRK6-28	chr13:90581478-90581620	NONHSAT034639
11	lnc-GPC5-3	chr13:91187009-91187334	ENSG00000234384
12	lnc-DCT-10	chr13:90758201-90758456	NONHSAT034642
13	lnc-GPC5-3	chr13:91150464-91150519	NONHSAT034649
14	lnc-DCT-10	chr13:90758837-90760915	NONHSAT034642
15	lnc-DCT-10	chr13:90712506-90712866	ENSG00000261446.1
16	lnc-GPC5-3	chr13:91187009-91187596	NONHSAT034649
17	lnc-GPC5-3	chr13:91185030-91185074	ENSG00000234384
18	lnc-SLITRK6-28	chr13:90581478-90581662	NONHSAT034638
19	lnc-GPC5-10	chr13:90804188-90804830	ucscGeneNc_uc001vlq_1
20	lnc-GPC5-3	chr13:91145541-91145671	ENSG00000234384
21	lnc-GPC5-3	chr13:91165742-91165826	XLOC_010469
22	lnc-SLITRK6-27	chr13:90539777-90539848	NONHSAT034637
23	lnc-DCT-10	chr13:90731381-90731516	ENSG00000261446.1
24	lnc-GPC5-3	chr13:91179654-91179752	XLOC_010469
25	lnc-GPC5-3	chr13:91185030-91185074	NONHSAT034649
26	lnc-GPC5-3	chr13:91150464-91150519	XLOC_010469
27	lnc-DCT-10	chr13:90771027-90771971	NONHSAT034642
28	lnc-GPC5-10	chr13:90798075-90798214	NONHSAT034645
29	lnc-GPC5-3	chr13:91187009-91187593	XLOC_010469
30	lnc-GPC5-3	chr13:91165742-91165826	ENSG00000234384
31	lnc-DCT-10	chr13:90758837-90760915	ENSG00000261446.1
32	lnc-GPC5-3	chr13:91150464-91150519	ENSG00000234384
33	lnc-GPC5-10	chr13:90798075-90798214	ucscGeneNc_uc001vlq_1
34	lnc-DCT-10	chr13:90718982-90719064	ENSG00000261446.1
35	lnc-GPC5-3	chr13:91185030-91185074	XLOC_010469
36	lnc-GPC5-3	chr13:91145542-91145671	NONHSAT034649
37	lnc-GPC5-8	chr13:90951775-90951821	NONHSAT034648
38	lnc-DCT-10	chr13:90771027-90771973	ENSG00000261446.1
39	lnc-GPC5-10	chr13:90800411-90800481	NONHSAT034645
40	lnc-GPC5-3	chr13:91165742-91165826	NONHSAT034649
41	lnc-GPC5-10	chr13:90804188-90804834	NONHSAT034645
42	lnc-GPC5-3	chr13:91179654-91179752	NONHSAT034649
43	lnc-SLITRK6-28	chr13:90577876-90578113	l_900_chr13:90577875-90581583_kidney
44	lnc-DCT-10	chr13:90758201-90758456	ENSG00000261446.1
45	lnc-SLITRK6-28	chr13:90581478-90581583	l_900_chr13:90577875-90581583_kidney
46	lnc-GPC5-10	chr13:90799953-90800025	ucscGeneNc_uc001vlq_1
47	lnc-GPC5-8	chr13:90952694-90952895	NONHSAT034648
48	lnc-GPC5-8	chr13:90943495-90943667	NONHSAT034648
49	lnc-GPC5-8	chr13:90942129-90942263	NONHSAT034648
50	lnc-DCT-10	chr13:90760108-90760794	NONHSAT034643

miRNA name	Chromosome Location	mirBase accession
hsa-miR-622	chr13:90883496-90883516	MIMAT0003291

No data

Variant related genes	Relation type
KRT18P27	TF binding region
PEX12P1	TF binding region
MIR622	TF binding region
LINC01049	TF binding region
LINC00559	TF binding region
FAR1P1	TF binding region
RNU6-75P	TF binding region
RNA5SP34	TF binding region
KRT18P27	CpG island
PEX12P1	CpG island
MIR622	CpG island
LINC01049	CpG island
LINC00559	CpG island
FAR1P1	CpG island
RNU6-75P	CpG island
RNA5SP34	CpG island
ENSG00000130304	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000225936	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000148308	chromatin interactions
ENSG00000110700	chromatin interactions
ENSG00000234384	chromatin interactions
ENSG00000167658	chromatin interactions
ENSG00000236905	chromatin interactions
ENSG00000234227	chromatin interactions
ENSG00000222414	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000111057	chromatin interactions
ENSG00000261446	chromatin interactions
ENSG00000067596	chromatin interactions
ENSG00000215417	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000251753	chromatin interactions
ENSG00000099999	chromatin interactions
ENSG00000207858	chromatin interactions
KRAS	Mature miRNA region
ARNTL	miRNA target sites
PTEN	miRNA target sites
MEIS1	miRNA target sites

Extended variants
information (count: 19800 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:19800 , 50 per page) page: 1 2 3 4 5 6 7 ... 396

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560163199	chr13:90514624-90514625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542892149	chr13:90514789-90514790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113772945	chr13:90514811-90514812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572988223	chr13:90514849-90514850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75889454	chr13:90514918-90514919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147618759	chr13:90514979-90514980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532571692	chr13:90515013-90515014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564874973	chr13:90515022-90515023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547590442	chr13:90515026-90515027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565932549	chr13:90515029-90515030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533272836	chr13:90515030-90515031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189616264	chr13:90515032-90515033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552252856	chr13:90515038-90515039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9515644	chr13:90515075-90515076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537129966	chr13:90515088-90515089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555207124	chr13:90515104-90515105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183340473	chr13:90515140-90515141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9515645	chr13:90515160-90515161	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140474194	chr13:90515166-90515167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144519037	chr13:90515176-90515177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73584640	chr13:90515195-90515196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546135672	chr13:90515203-90515204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557708347	chr13:90515208-90515209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530258431	chr13:90515212-90515213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79110363	chr13:90515215-90515216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186205155	chr13:90515216-90515217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140387068	chr13:90515221-90515222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534368701	chr13:90515229-90515230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73584643	chr13:90515250-90515251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541184094	chr13:90515253-90515254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559625486	chr13:90515257-90515258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370502835	chr13:90515304-90515305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9522772	chr13:90515320-90515321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145177706	chr13:90515344-90515345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9515646	chr13:90515393-90515394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548985736	chr13:90515399-90515400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559881773	chr13:90515426-90515427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115931888	chr13:90515429-90515430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149174517	chr13:90515438-90515439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547575876	chr13:90515439-90515440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565960937	chr13:90515479-90515480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552212706	chr13:90515481-90515482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71726976	chr13:90515486-90515487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148973424	chr13:90515496-90515497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35950337	chr13:90515504-90515505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201978630	chr13:90515514-90515515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200605543	chr13:90515515-90515516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61961340	chr13:90515517-90515518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34122493	chr13:90515518-90515519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201779306	chr13:90515519-90515520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:1340 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90514600-90515400	Enhancers	HMEC	breast
2	chr13:90515000-90515400	Enhancers	HUVEC	blood vessel
3	chr13:90515400-90516400	Weak transcription	HUVEC	blood vessel
4	chr13:90516400-90518200	Enhancers	HUVEC	blood vessel
5	chr13:90536000-90536400	Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr13:90543400-90544200	Enhancers	HUVEC	blood vessel
7	chr13:90550400-90551800	Enhancers	HepG2	liver
8	chr13:90551800-90552000	Flanking Active TSS	HepG2	liver
9	chr13:90552000-90552400	Enhancers	HepG2	liver
10	chr13:90552200-90552600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr13:90552200-90552800	Enhancers	HUVEC	blood vessel
12	chr13:90552400-90552600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr13:90552400-90553400	Flanking Active TSS	HepG2	liver
14	chr13:90552600-90552800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr13:90552600-90552800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:90552600-90553000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:90552600-90553000	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr13:90552600-90553000	Active TSS	NHEK	skin
19	chr13:90552800-90553200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr13:90553400-90554200	Enhancers	HepG2	liver
21	chr13:90554200-90557200	Weak transcription	HepG2	liver
22	chr13:90557200-90557800	Enhancers	HepG2	liver
23	chr13:90557800-90558000	Flanking Active TSS	HepG2	liver
24	chr13:90558000-90558200	Active TSS	HepG2	liver
25	chr13:90558600-90559400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:90575200-90575800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr13:90575200-90575800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr13:90575200-90575800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr13:90575400-90575800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr13:90575400-90575800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr13:90575400-90575800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr13:90575400-90576600	Enhancers	HMEC	breast
33	chr13:90575600-90576600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:90575800-90581200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr13:90576000-90576400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:90576000-90576600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:90576000-90576600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr13:90576000-90576600	Enhancers	Hela-S3	cervix
39	chr13:90581000-90583800	Weak transcription	Right Atrium	heart
40	chr13:90582400-90583600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:90582600-90583600	Enhancers	HepG2	liver
42	chr13:90583000-90583400	Enhancers	Fetal Kidney	kidney
43	chr13:90583000-90583600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:90583000-90583600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr13:90583000-90583600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr13:90583200-90583400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:90583200-90583400	Enhancers	Pancreas	Pancrea
48	chr13:90583200-90583600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr13:90585000-90585400	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr13:90585000-90585400	Active TSS	H9 Cell Line	embryonic stem cell

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