Variant report

Variant	nsv561616
Chromosome Location	chr13:50120435-50190246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:50181305-50181495	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:50161361-50161950	HepG2	liver:	n/a	n/a
3	ARID3A	chr13:50181294-50181522	K562	blood:	n/a	n/a
4	ARID3A	chr13:50161077-50161152	HepG2	liver:	n/a	n/a
5	ARID3A	chr13:50134434-50134784	HepG2	liver:	n/a	n/a
6	ATF2	chr13:50145690-50146288	GM12878	blood:	n/a	n/a
7	ATF2	chr13:50145626-50146173	GM12878	blood:	n/a	n/a
8	ATF2	chr13:50159392-50159732	GM12878	blood:	n/a	n/a
9	ATF3	chr13:50159404-50159991	GM12878	blood:	n/a	chr13:50159561-50159570 chr13:50159736-50159745 chr13:50159706-50159726 chr13:50159725-50159745 chr13:50159736-50159756 chr13:50159875-50159884 chr13:50159754-50159763
10	ATF3	chr13:50159391-50159975	HepG2	liver:	n/a	chr13:50159561-50159570 chr13:50159736-50159745 chr13:50159706-50159726 chr13:50159725-50159745 chr13:50159736-50159756 chr13:50159875-50159884 chr13:50159754-50159763
11	ATF3	chr13:50159608-50159828	GM12878	blood:	n/a	chr13:50159736-50159745 chr13:50159706-50159726 chr13:50159725-50159745 chr13:50159736-50159756 chr13:50159754-50159763
12	ATF3	chr13:50159435-50159946	H1-hESC	embryonic stem cell:	n/a	chr13:50159561-50159570 chr13:50159736-50159745 chr13:50159706-50159726 chr13:50159725-50159745 chr13:50159736-50159756 chr13:50159875-50159884 chr13:50159754-50159763
13	ATF3	chr13:50159511-50159888	HepG2	liver:	n/a	chr13:50159561-50159570 chr13:50159736-50159745 chr13:50159706-50159726 chr13:50159725-50159745 chr13:50159736-50159756 chr13:50159875-50159884 chr13:50159754-50159763
14	ATF3	chr13:50159573-50159874	K562	blood:	n/a	chr13:50159736-50159745 chr13:50159706-50159726 chr13:50159725-50159745 chr13:50159736-50159756 chr13:50159754-50159763
15	ATF3	chr13:50159508-50159900	K562	blood:	n/a	chr13:50159561-50159570 chr13:50159736-50159745 chr13:50159706-50159726 chr13:50159725-50159745 chr13:50159736-50159756 chr13:50159875-50159884 chr13:50159754-50159763
16	ATF3	chr13:50159506-50159894	H1-hESC	embryonic stem cell:	n/a	chr13:50159561-50159570 chr13:50159736-50159745 chr13:50159706-50159726 chr13:50159725-50159745 chr13:50159736-50159756 chr13:50159875-50159884 chr13:50159754-50159763
17	BACH1	chr13:50181187-50181550	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr13:50181291-50181324	K562	blood:	n/a	n/a
19	BATF	chr13:50144463-50144729	GM12878	blood:	n/a	chr13:50144518-50144527
20	BATF	chr13:50146050-50146368	GM12878	blood:	n/a	n/a
21	BATF	chr13:50145645-50146016	GM12878	blood:	n/a	n/a
22	BATF	chr13:50146077-50146332	GM12878	blood:	n/a	n/a
23	BATF	chr13:50145747-50146053	GM12878	blood:	n/a	n/a
24	BCL11A	chr13:50145639-50146047	GM12878	blood:	n/a	n/a
25	BCL11A	chr13:50146042-50146312	GM12878	blood:	n/a	n/a
26	BCL11A	chr13:50145718-50145994	GM12878	blood:	n/a	n/a
27	BCL11A	chr13:50146070-50146365	GM12878	blood:	n/a	n/a
28	BCLAF1	chr13:50181082-50181563	GM12878	blood:	n/a	n/a
29	BHLHE40	chr13:50134491-50134757	HepG2	liver:	n/a	n/a
30	BHLHE40	chr13:50141587-50141920	K562	blood:	n/a	n/a
31	BHLHE40	chr13:50181195-50181543	GM12878	blood:	n/a	n/a
32	BHLHE40	chr13:50158980-50160236	K562	blood:	n/a	chr13:50159589-50159605 chr13:50159736-50159745 chr13:50159734-50159747 chr13:50159974-50159990 chr13:50159737-50159746 chr13:50159736-50159745 chr13:50159730-50159751
33	BHLHE40	chr13:50181180-50181459	K562	blood:	n/a	n/a
34	BHLHE40	chr13:50161385-50162070	HepG2	liver:	n/a	n/a
35	BHLHE40	chr13:50181263-50181518	HepG2	liver:	n/a	n/a
36	BHLHE40	chr13:50145695-50146199	GM12878	blood:	n/a	n/a
37	BHLHE40	chr13:50159588-50159851	A549	lung:	n/a	chr13:50159589-50159605 chr13:50159736-50159745 chr13:50159734-50159747 chr13:50159737-50159746 chr13:50159736-50159745 chr13:50159730-50159751
38	BHLHE40	chr13:50159515-50160027	GM12878	blood:	n/a	chr13:50159589-50159605 chr13:50159736-50159745 chr13:50159734-50159747 chr13:50159974-50159990 chr13:50159737-50159746 chr13:50159736-50159745 chr13:50159730-50159751
39	BHLHE40	chr13:50171223-50171526	K562	blood:	n/a	chr13:50171344-50171353 chr13:50171344-50171353
40	BHLHE40	chr13:50159293-50160367	HepG2	liver:	n/a	chr13:50159589-50159605 chr13:50159736-50159745 chr13:50159734-50159747 chr13:50159974-50159990 chr13:50159737-50159746 chr13:50159736-50159745 chr13:50159730-50159751
41	BRCA1	chr13:50159631-50159642	GM12878	blood:	n/a	n/a
42	BRCA1	chr13:50181238-50181495	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr13:50181392-50181398	HepG2	liver:	n/a	n/a
44	BRCA1	chr13:50181196-50181459	Hela-S3	cervix:	n/a	n/a
45	CBX3	chr13:50141604-50141930	K562	blood:	n/a	n/a
46	CCNT2	chr13:50159349-50160020	K562	blood:	n/a	n/a
47	CCNT2	chr13:50171489-50171719	K562	blood:	n/a	n/a
48	CEBPB	chr13:50167796-50167984	HepG2	liver:	n/a	chr13:50167938-50167949
49	CEBPB	chr13:50164988-50165115	HepG2	liver:	n/a	n/a
50	CEBPB	chr13:50137661-50138023	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:50159779-50159829	HCT-116	colon:	n/a
2	chr13:50159779-50159829	HCT-116	colon:	n/a
3	chr13:50159867-50159917	A549	lung:	n/a
4	chr13:50160095-50160145	AG04449	skin:	fetal
5	chr13:50159768-50159818	AG09309	skin:	n/a
6	chr13:50134640-50134690	HCF	heart:	n/a
7	chr13:50159829-50159879	AoSMC	blood vessel:	n/a
8	chr13:50159138-50159188	SK-N-SH_RA	brain:	n/a
9	chr13:50159867-50159917	GM12892	blood:	n/a
10	chr13:50159779-50159829	BJ	skin:	n/a
11	chr13:50159798-50159848	HMEC	breast:	n/a
12	chr13:50159138-50159188	HPAEpiC	pulmonary alveolar:	n/a
13	chr13:50160670-50160720	AG10803	skin:	n/a
14	chr13:50160670-50160720	K562	blood:	n/a
15	chr13:50159768-50159818	HMEC	breast:	n/a
16	chr13:50159788-50159838	HMEC	breast:	n/a
17	chr13:50159387-50159437	SAEC	small airway:	n/a
18	chr13:50123613-50123663	HMEC	breast:	n/a
19	chr13:50159779-50159829	HIPEpiC	eye:	n/a
20	chr13:50159138-50159188	HMEC	breast:	n/a
21	chr13:50159138-50159188	K562	blood:	n/a
22	chr13:50134640-50134690	HIPEpiC	eye:	n/a
23	chr13:50159779-50159829	RPTEC	kidney:	n/a
24	chr13:50155502-50155552	PFSK-1	brain:	n/a
25	chr13:50159768-50159818	HRPEpiC	eye:	n/a
26	chr13:50159867-50159917	U87	brain:	n/a
27	chr13:50160050-50160100	IMR90	lung:	fetal
28	chr13:50159788-50159838	HAEpiC	amniotic membrane:	n/a
29	chr13:50159798-50159848	ProgFib	skin:	n/a
30	chr13:50159867-50159917	Hepatocyte	liver:	n/a
31	chr13:50159788-50159838	GM19239	blood:	n/a
32	chr13:50160670-50160720	AoSMC	blood vessel:	n/a
33	chr13:50159138-50159188	GM12891	blood:	n/a
34	chr13:50159387-50159437	AG04449	skin:	fetal
35	chr13:50159788-50159838	HEK293	kidney:	embryo
36	chr13:50123645-50123695	H1-hESC	embryonic stem cell:	embryo
37	chr13:50159829-50159879	SK-N-SH_RA	brain:	n/a
38	chr13:50159779-50159829	SK-N-SH	brain:	n/a
39	chr13:50159138-50159188	HEK293	kidney:	embryo
40	chr13:50160062-50160112	T-47D	breast:	n/a
41	chr13:50159387-50159437	NB4	blood:	n/a
42	chr13:50162325-50162375	SK-N-SH	brain:	n/a
43	chr13:50155502-50155552	GM19239	blood:	n/a
44	chr13:50159788-50159838	NHDF-neo	bronchial:	n/a
45	chr13:50159768-50159818	SK-N-SH	brain:	n/a
46	chr13:50134640-50134690	NT2-D1	testis:	n/a
47	chr13:50160050-50160100	SK-N-SH	brain:	n/a
48	chr13:50123613-50123663	CMK	blood:	n/a
49	chr13:50160350-50160400	MCF10A-Er-Src	breast:	n/a
50	chr13:50159829-50159879	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:50133873..50136164-chr13:50144707..50146572,2	MCF-7	breast:
2	chr13:50157525..50159034-chr13:50176178..50177840,2	MCF-7	breast:
3	chr13:50017613..50020080-chr13:50178535..50181318,2	MCF-7	breast:
4	chr13:50143262..50147042-chr13:50150087..50153613,4	MCF-7	breast:
5	chr13:50182731..50184724-chr13:50185681..50187681,2	K562	blood:
6	chr13:50140129..50142488-chr13:50158778..50160378,3	MCF-7	breast:
7	chr13:50152416..50157405-chr13:50158007..50161090,7	MCF-7	breast:
8	chr13:50148788..50150757-chr13:50155991..50157502,2	K562	blood:
9	chr13:50159263..50159994-chr6:30180805..30181444,2	NB4	blood:
10	chr13:50158705..50160311-chr13:50160787..50163577,2	K562	blood:
11	chr13:50157525..50159034-chr13:50176178..50177840,2	MCF-7	breast:
12	chr13:49919468..49922351-chr13:50179863..50182327,2	K562	blood:
13	chr13:50158880..50161532-chr13:50167908..50169542,2	MCF-7	breast:
14	chr13:50129638..50131635-chr13:50134638..50136314,2	MCF-7	breast:
15	chr13:50126796..50128354-chr13:50131796..50134070,2	MCF-7	breast:
16	chr13:50140695..50143077-chr13:50154599..50156492,2	K562	blood:
17	chr13:50127837..50130111-chr13:50134111..50136962,3	MCF-7	breast:
18	chr13:50091935..50095583-chr13:50159811..50161648,3	MCF-7	breast:
19	chr13:50126796..50128354-chr13:50131796..50134070,2	MCF-7	breast:
20	chr13:50017307..50019773-chr13:50138937..50140601,2	MCF-7	breast:
21	chr13:50068857..50071479-chr13:50143285..50145487,2	MCF-7	breast:
22	chr13:50147102..50149993-chr13:50155282..50157133,2	MCF-7	breast:
23	chr13:50133873..50136164-chr13:50144707..50146572,2	MCF-7	breast:
24	chr13:50018091..50020783-chr13:50160403..50162609,2	MCF-7	breast:
25	chr13:50016508..50019619-chr13:50158297..50162493,5	MCF-7	breast:
26	chr13:50068906..50071236-chr13:50159028..50161203,3	MCF-7	breast:
27	chr13:50129638..50131635-chr13:50134638..50136314,2	MCF-7	breast:
28	chr13:50119828..50121736-chr13:50158802..50160343,2	MCF-7	breast:
29	chr1:144533809..144534431-chr13:50159258..50160240,2	Hela-S3	cervix:
30	chr13:49875023..49875959-chr13:50180755..50181847,8	K562	blood:
31	chr13:50149299..50151085-chr13:50153245..50155110,2	MCF-7	breast:
32	chr13:50148788..50150757-chr13:50155991..50157502,2	K562	blood:
33	chr13:50127837..50130111-chr13:50134111..50136962,3	MCF-7	breast:
34	chr13:50142756..50146527-chr13:50158016..50161593,4	MCF-7	breast:
35	chr13:49875014..49875947-chr13:50128275..50129099,3	MCF-7	breast:
36	chr13:49820000..49822078-chr13:50177732..50179319,2	K562	blood:
37	chr13:50143614..50146624-chr13:50158019..50161696,4	MCF-7	breast:
38	chr13:50017247..50020200-chr13:50127013..50128782,3	MCF-7	breast:
39	chr13:50158665..50162522-chr13:50168019..50171007,4	MCF-7	breast:
40	chr13:50016553..50018688-chr13:50135233..50137955,2	K562	blood:
41	chr13:50124973..50127457-chr13:50130944..50133269,2	MCF-7	breast:
42	chr13:50134986..50135758-chr13:50143919..50144828,2	MCF-7	breast:
43	chr13:50016992..50019784-chr13:50159235..50161344,2	K562	blood:
44	chr13:50134986..50135758-chr13:50143919..50144828,2	MCF-7	breast:
45	chr13:50018389..50020157-chr13:50156893..50158971,2	MCF-7	breast:
46	chr13:49874144..49875850-chr13:50184194..50186636,2	MCF-7	breast:
47	chr13:50087217..50089138-chr13:50160277..50162233,2	MCF-7	breast:
48	chr13:50068598..50070239-chr13:50135700..50137416,2	MCF-7	breast:
49	chr13:50016440..50019751-chr13:50141127..50144444,4	MCF-7	breast:
50	chr13:50143262..50147042-chr13:50150087..50153613,4	MCF-7	breast:

Variant related genes	Relation type
RCBTB1	TF binding region
ENSG00000176882	TF binding region
RCBTB1	CpG island
ENSG00000176882	CpG island
ENSG00000201699	chromatin interactions
ENSG00000136147	chromatin interactions
ENSG00000136144	chromatin interactions
ENSG00000136169	chromatin interactions
ENSG00000102547	chromatin interactions
ENSG00000102543	chromatin interactions
ENSG00000234127	chromatin interactions
ENSG00000215462	chromatin interactions

Extended variants
information (count: 2865 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:2865 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2407697	chr13:50120435-50120436	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537850736	chr13:50120437-50120438	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs71818417	chr13:50120455-50120456	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566892292	chr13:50120507-50120508	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs578022001	chr13:50120618-50120619	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535859397	chr13:50120634-50120635	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs74421029	chr13:50120645-50120646	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553981125	chr13:50120648-50120649	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572370981	chr13:50120655-50120656	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542900520	chr13:50120685-50120686	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576355720	chr13:50120724-50120725	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs58284306	chr13:50120747-50120748	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576152274	chr13:50120755-50120756	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543037117	chr13:50120792-50120793	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565009501	chr13:50120804-50120805	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187403564	chr13:50120831-50120832	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111712004	chr13:50120857-50120858	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192246384	chr13:50120879-50120880	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527870235	chr13:50120884-50120885	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549314240	chr13:50120885-50120886	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567598851	chr13:50120938-50120939	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369057732	chr13:50120944-50120945	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539218943	chr13:50120947-50120948	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558925265	chr13:50120964-50120965	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572604385	chr13:50120977-50120978	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538270618	chr13:50120981-50120982	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1536192	chr13:50120985-50120986	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs571734059	chr13:50120997-50120998	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561384864	chr13:50121005-50121006	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568600413	chr13:50121037-50121038	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs73190753	chr13:50121039-50121040	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185500225	chr13:50121054-50121055	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566888916	chr13:50121055-50121056	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554016020	chr13:50121100-50121101	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572309082	chr13:50121116-50121117	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190417544	chr13:50121154-50121155	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554938890	chr13:50121192-50121193	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377081115	chr13:50121205-50121206	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs1570883	chr13:50121211-50121212	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs543867640	chr13:50121216-50121217	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs193292487	chr13:50121242-50121243	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201057287	chr13:50121310-50121311	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs3039280	chr13:50121311-50121312	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs386379143	chr13:50121312-50121313	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs386379144	chr13:50121323-50121324	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs397807681	chr13:50121324-50121325	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184326951	chr13:50121349-50121350	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188255341	chr13:50121397-50121398	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554120069	chr13:50121399-50121400	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540809262	chr13:50121435-50121436	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Osteosarcoma	21215367	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:1987 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
2	chr13:50088400-50151000	Weak transcription	Psoas Muscle	Psoas
3	chr13:50088600-50134200	Weak transcription	Stomach Mucosa	stomach
4	chr13:50090000-50122800	Weak transcription	Ovary	ovary
5	chr13:50090000-50123600	Weak transcription	Esophagus	oesophagus
6	chr13:50091400-50138800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:50094600-50141600	Weak transcription	Right Ventricle	heart
8	chr13:50097800-50135000	Weak transcription	Colonic Mucosa	Colon
9	chr13:50101600-50142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:50104600-50143800	Weak transcription	Hela-S3	cervix
11	chr13:50106600-50133200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr13:50108600-50158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:50109200-50121600	Weak transcription	Brain Germinal Matrix	brain
14	chr13:50110400-50134400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:50110600-50124800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr13:50110800-50126800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr13:50111400-50127600	Weak transcription	Fetal Heart	heart
18	chr13:50111600-50136600	Strong transcription	Dnd41	blood
19	chr13:50111800-50133200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:50112000-50135000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:50112200-50121200	Strong transcription	Fetal Intestine Large	intestine
22	chr13:50112200-50134200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:50112200-50138400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:50113200-50121400	Strong transcription	HMEC	breast
25	chr13:50113200-50127200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:50113600-50123400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:50114000-50125800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr13:50114000-50126600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr13:50115000-50123400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr13:50115000-50123400	Weak transcription	NHLF	lung
31	chr13:50115000-50123600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr13:50115000-50123800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr13:50115000-50132200	Weak transcription	Colon Smooth Muscle	Colon
34	chr13:50115000-50140400	Weak transcription	Fetal Brain Male	brain
35	chr13:50115200-50120600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr13:50115200-50122600	Weak transcription	Fetal Lung	lung
37	chr13:50115200-50124600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr13:50115200-50124800	Weak transcription	Fetal Brain Female	brain
39	chr13:50115200-50132800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr13:50115200-50133200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr13:50115200-50135000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr13:50115200-50135600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr13:50115200-50140400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr13:50115400-50123400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr13:50115400-50124000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr13:50115400-50124400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr13:50115400-50126200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr13:50115400-50130800	Weak transcription	NH-A	brain
49	chr13:50115400-50131200	Weak transcription	HSMM	muscle
50	chr13:50115400-50133200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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