Variant report

Variant	nsv561645
Chromosome Location	chr13:52318522-52405251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2778)
CpG islands
(count:1527)
Chromatin interactive
region (count:129)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2778 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:52360278-52360597	K562	blood:	n/a	n/a
2	ARID3A	chr13:52338298-52338689	HepG2	liver:	n/a	n/a
3	ARID3A	chr13:52377699-52377908	K562	blood:	n/a	n/a
4	ARID3A	chr13:52322175-52322518	HepG2	liver:	n/a	n/a
5	ATF1	chr13:52377504-52378523	K562	blood:	n/a	n/a
6	ATF2	chr13:52338747-52339082	GM12878	blood:	n/a	n/a
7	ATF2	chr13:52367573-52368630	GM12878	blood:	n/a	n/a
8	ATF2	chr13:52371795-52372208	GM12878	blood:	n/a	n/a
9	ATF2	chr13:52377435-52378108	H1-hESC	embryonic stem cell:	n/a	chr13:52377912-52377923
10	ATF2	chr13:52371703-52372179	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr13:52371741-52372258	GM12878	blood:	n/a	n/a
12	ATF2	chr13:52378117-52378735	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr13:52371704-52372239	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr13:52378085-52378611	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr13:52377493-52378555	GM12878	blood:	n/a	chr13:52377912-52377923
16	ATF2	chr13:52377395-52378675	GM12878	blood:	n/a	chr13:52377912-52377923
17	ATF2	chr13:52338504-52339189	GM12878	blood:	n/a	n/a
18	ATF2	chr13:52367562-52368583	GM12878	blood:	n/a	n/a
19	ATF3	chr13:52377701-52378073	K562	blood:	n/a	chr13:52377914-52377924 chr13:52377913-52377924 chr13:52377914-52377921 chr13:52377911-52377924 chr13:52377911-52377924 chr13:52377902-52377922 chr13:52377942-52377962 chr13:52377913-52377933 chr13:52377912-52377925
20	ATF3	chr13:52377813-52378432	K562	blood:	n/a	chr13:52377914-52377924 chr13:52377913-52377924 chr13:52377914-52377921 chr13:52377911-52377924 chr13:52378325-52378338 chr13:52378129-52378138 chr13:52377911-52377924 chr13:52377902-52377922 chr13:52377942-52377962 chr13:52377913-52377933 chr13:52378134-52378154 chr13:52377912-52377925
21	ATF3	chr13:52378117-52378557	K562	blood:	n/a	chr13:52378325-52378338 chr13:52378129-52378138 chr13:52378134-52378154
22	ATF3	chr13:52367617-52368003	K562	blood:	n/a	n/a
23	ATF3	chr13:52377967-52378480	HepG2	liver:	n/a	chr13:52378325-52378338 chr13:52378129-52378138 chr13:52378134-52378154
24	BACH1	chr13:52368442-52368613	K562	blood:	n/a	n/a
25	BACH1	chr13:52325359-52325366	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr13:52367680-52368031	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr13:52385138-52385165	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr13:52367629-52368133	K562	blood:	n/a	n/a
29	BACH1	chr13:52377614-52378338	H1-hESC	embryonic stem cell:	n/a	n/a
30	BATF	chr13:52338279-52339016	GM12878	blood:	n/a	n/a
31	BATF	chr13:52376365-52376687	GM12878	blood:	n/a	n/a
32	BATF	chr13:52338360-52338662	GM12878	blood:	n/a	n/a
33	BATF	chr13:52367657-52368346	GM12878	blood:	n/a	chr13:52367823-52367833
34	BATF	chr13:52376333-52376661	GM12878	blood:	n/a	n/a
35	BATF	chr13:52367719-52368336	GM12878	blood:	n/a	chr13:52367823-52367833
36	BATF	chr13:52386320-52386655	GM12878	blood:	n/a	n/a
37	BCL11A	chr13:52368078-52368335	GM12878	blood:	n/a	n/a
38	BCL11A	chr13:52368028-52368329	GM12878	blood:	n/a	n/a
39	BCL3	chr13:52378659-52379103	GM12878	blood:	n/a	n/a
40	BCLAF1	chr13:52367757-52368507	GM12878	blood:	n/a	n/a
41	BCLAF1	chr13:52389189-52389541	GM12878	blood:	n/a	n/a
42	BCLAF1	chr13:52393189-52393689	GM12878	blood:	n/a	chr13:52393482-52393491 chr13:52393555-52393564 chr13:52393434-52393443
43	BCLAF1	chr13:52377446-52378621	GM12878	blood:	n/a	n/a
44	BHLHE40	chr13:52360151-52360567	K562	blood:	n/a	n/a
45	BHLHE40	chr13:52389258-52389874	HepG2	liver:	n/a	n/a
46	BHLHE40	chr13:52377496-52378376	K562	blood:	n/a	n/a
47	BHLHE40	chr13:52338324-52338663	HepG2	liver:	n/a	n/a
48	BHLHE40	chr13:52346130-52346234	K562	blood:	n/a	n/a
49	BHLHE40	chr13:52393266-52393670	GM12878	blood:	n/a	n/a
50	BHLHE40	chr13:52396335-52396544	K562	blood:	n/a	n/a

(count:1527 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:52378530-52378580	SK-N-SH_RA	brain:	n/a
2	chr13:52342380-52342430	HAEpiC	amniotic membrane:	n/a
3	chr13:52378530-52378580	SK-N-SH_RA	brain:	n/a
4	chr13:52342380-52342430	HAEpiC	amniotic membrane:	n/a
5	chr13:52392151-52392201	BJ	skin:	n/a
6	chr13:52338758-52338808	ECC-1	luminal epithelium:	n/a
7	chr13:52378179-52378229	SK-N-SH_RA	brain:	n/a
8	chr13:52378179-52378229	HPAEpiC	pulmonary alveolar:	n/a
9	chr13:52342952-52343002	HAEpiC	amniotic membrane:	n/a
10	chr13:52392151-52392201	HCPEpiC	choroid plexus:	n/a
11	chr13:52377825-52377875	AG10803	skin:	n/a
12	chr13:52377730-52377780	Hepatocyte	liver:	n/a
13	chr13:52343378-52343428	SK-N-SH	brain:	n/a
14	chr13:52378305-52378355	HRE	kidney:	n/a
15	chr13:52338758-52338808	HCM	heart:	n/a
16	chr13:52381961-52382011	GM12891	blood:	n/a
17	chr13:52343378-52343428	HEEpiC	esophagus:	n/a
18	chr13:52378555-52378605	HCM	heart:	n/a
19	chr13:52343307-52343357	H1-hESC	embryonic stem cell:	embryo
20	chr13:52381961-52382011	NT2-D1	testis:	n/a
21	chr13:52375776-52375826	HAEpiC	amniotic membrane:	n/a
22	chr13:52338758-52338808	GM19239	blood:	n/a
23	chr13:52378323-52378373	PFSK-1	brain:	n/a
24	chr13:52378530-52378580	Hepatocyte	liver:	n/a
25	chr13:52378480-52378530	GM06990	blood:	n/a
26	chr13:52378294-52378344	PANC-1	pancreas:	n/a
27	chr13:52375776-52375826	HIPEpiC	eye:	n/a
28	chr13:52378530-52378580	AG10803	skin:	n/a
29	chr13:52343307-52343357	HCPEpiC	choroid plexus:	n/a
30	chr13:52342952-52343002	BE2_C	brain:	n/a
31	chr13:52375776-52375826	IMR90	lung:	fetal
32	chr13:52378480-52378530	AG09319	gingival:	n/a
33	chr13:52343378-52343428	HCPEpiC	choroid plexus:	n/a
34	chr13:52343378-52343428	T-47D	breast:	n/a
35	chr13:52378319-52378369	HEEpiC	esophagus:	n/a
36	chr13:52338758-52338808	HMEC	breast:	n/a
37	chr13:52343378-52343428	HMEC	breast:	n/a
38	chr13:52377825-52377875	GM12878	blood:	n/a
39	chr13:52378555-52378605	MCF-7	breast:	n/a
40	chr13:52378294-52378344	HUVEC	blood vessel:	n/a
41	chr13:52378480-52378530	BE2_C	brain:	n/a
42	chr13:52378305-52378355	Caco-2	colon:	n/a
43	chr13:52378323-52378373	MCF10A-Er-Src	breast:	n/a
44	chr13:52378744-52378794	AG09309	skin:	n/a
45	chr13:52377730-52377780	HRPEpiC	eye:	n/a
46	chr13:52342380-52342430	AG10803	skin:	n/a
47	chr13:52378530-52378580	HCPEpiC	choroid plexus:	n/a
48	chr13:52381961-52382011	Jurkat	blood:	n/a
49	chr13:52342380-52342430	MCF-7	breast:	n/a
50	chr13:52336040-52336090	NHDF-neo	bronchial:	n/a

(count:129 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr13:52381066..52384611-chr13:52388790..52391700,3	MCF-7	breast:
2	chr13:52378222..52381026-chr13:52393524..52396467,2	MCF-7	breast:
3	chr13:52196868..52198999-chr13:52337488..52339399,2	K562	blood:
4	chr13:52352368..52355270-chr13:52370453..52372078,2	MCF-7	breast:
5	chr13:52022483..52024400-chr13:52339695..52341730,2	MCF-7	breast:
6	chr13:52337387..52338953-chr13:52340888..52343879,2	MCF-7	breast:
7	chr13:52380223..52382865-chr13:52393568..52395438,2	K562	blood:
8	chr13:52377335..52378174-chr13:52702786..52703324,2	K562	blood:
9	chr13:52158563..52160769-chr13:52355265..52357918,2	MCF-7	breast:
10	chr13:52358426..52362241-chr13:52376415..52379493,4	K562	blood:
11	chr13:52327041..52329253-chr13:52330642..52332442,2	K562	blood:
12	chr13:52025304..52027492-chr13:52329692..52332817,3	MCF-7	breast:
13	chr13:52374427..52380555-chr13:52387086..52391599,9	MCF-7	breast:
14	chr13:52388956..52389914-chr13:52406314..52407314,7	MCF-7	breast:
15	chr13:52004260..52005821-chr13:52369887..52371533,2	K562	blood:
16	chr10:70939484..70940397-chr13:52377745..52378410,2	NB4	blood:
17	chr13:52385711..52387281-chr13:52700589..52703329,2	K562	blood:
18	chr13:51708388..51710526-chr13:52384073..52385619,2	K562	blood:
19	chr13:52022728..52028464-chr13:52376436..52381467,17	K562	blood:
20	chr13:52309697..52311273-chr13:52321777..52323610,2	K562	blood:
21	chr13:52387973..52389920-chr13:52398590..52400891,2	K562	blood:
22	chr13:52402539..52404938-chr13:52405246..52407174,2	MCF-7	breast:
23	chr13:52398927..52403579-chr13:52421576..52424929,4	K562	blood:
24	chr13:52025709..52029684-chr13:52361886..52365561,3	MCF-7	breast:
25	chr13:52337340..52339624-chr13:52341106..52343794,2	K562	blood:
26	chr13:52388590..52390745-chr13:52574163..52575780,2	MCF-7	breast:
27	chr13:52353786..52355970-chr13:52358653..52360551,2	K562	blood:
28	chr13:52356403..52357979-chr13:52360988..52363353,2	MCF-7	breast:
29	chr13:52358613..52360700-chr13:52362310..52366609,3	K562	blood:
30	chr13:52368289..52369095-chr13:52377822..52378429,2	NB4	blood:
31	chr13:52389093..52389935-chr13:52702977..52703878,2	MCF-7	breast:
32	chr13:52356403..52357979-chr13:52360988..52363353,2	MCF-7	breast:
33	chr13:52381066..52384611-chr13:52388790..52391700,3	MCF-7	breast:
34	chr13:52025202..52027222-chr13:52338015..52339892,2	K562	blood:
35	chr13:52362645..52365632-chr13:52377625..52381040,3	K562	blood:
36	chr11:111749646..111750367-chr13:52378129..52378685,2	HCT-116	colon:
37	chr13:52389100..52392374-chr13:52395474..52400602,4	MCF-7	breast:
38	chr13:52023359..52028039-chr13:52370142..52379804,19	MCF-7	breast:
39	chr13:52354659..52356461-chr13:52357844..52360753,2	MCF-7	breast:
40	chr13:52024578..52027294-chr13:52317199..52320461,4	K562	blood:
41	chr13:52387525..52389920-chr13:52398590..52400891,3	K562	blood:
42	chr13:52024792..52027224-chr13:52389301..52393113,4	MCF-7	breast:
43	chr13:52019140..52019725-chr13:52355579..52356254,2	MCF-7	breast:
44	chr13:52380223..52382865-chr13:52393568..52395438,2	K562	blood:
45	chr13:52370681..52375031-chr13:52376464..52379694,5	MCF-7	breast:
46	chr13:52156934..52159026-chr13:52376788..52379281,3	K562	blood:
47	chr13:52353786..52355970-chr13:52358653..52360551,2	K562	blood:
48	chr13:52379385..52381613-chr13:52498581..52500814,2	K562	blood:
49	chr13:52015156..52017204-chr13:52376088..52377740,2	MCF-7	breast:
50	chr13:52327041..52329253-chr13:52330642..52332442,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP7B-2	chr13:52348057-52348170	NONHSAT033950
2	lnc-WDFY2-1	chr13:52387293-52387962	NONHSAT033955
3	lnc-WDFY2-1	chr13:52387293-52387962	NONHSAT033954
4	lnc-DHRS12-1	chr13:52387483-52391249	ENSG00000246013
5	lnc-WDFY2-1	chr13:52378295-52387482	NONHSAT033952
6	lnc-WDFY2-1	chr13:52387293-52387356	ENSG00000231856.1
7	lnc-WDFY2-1	chr13:52378433-52378937	ENSG00000231856.1
8	lnc-WDFY2-1	chr13:52380918-52381336	NONHSAT033954
9	lnc-ATP7B-2	chr13:52345957-52346047	NONHSAT033950
10	lnc-ATP7B-2	chr13:52351379-52351519	NONHSAT033950
11	lnc-ATP7B-2	chr13:52351196-52351257	NONHSAT033950
12	lnc-WDFY2-1	chr13:52380918-52381165	NONHSAT033955

No data

Variant related genes	Relation type
ENSG00000231856	TF binding region
DHRS12	TF binding region
ENSG00000231856	CpG island
DHRS12	CpG island
ENSG00000137720	chromatin interactions
ENSG00000123171	chromatin interactions
ENSG00000167182	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000102796	chromatin interactions
ENSG00000197168	chromatin interactions
ENSG00000139668	chromatin interactions
ENSG00000255561	chromatin interactions
ENSG00000122884	chromatin interactions
ENSG00000136108	chromatin interactions
ENSG00000206920	chromatin interactions
ENSG00000243406	chromatin interactions
ENSG00000231856	chromatin interactions
ENSG00000258529	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000224892	chromatin interactions
ENSG00000156502	chromatin interactions
CABYR	miRNA target sites

Extended variants
information (count: 3115 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:3115 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11839640	chr13:52318522-52318523	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112029643	chr13:52318523-52318524	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs531844701	chr13:52318615-52318616	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550176299	chr13:52318618-52318619	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs557317729	chr13:52318621-52318622	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111454398	chr13:52318639-52318640	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192303066	chr13:52318705-52318706	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs546370713	chr13:52318743-52318744	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs141964797	chr13:52318884-52318885	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs546554360	chr13:52318919-52318920	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs564856691	chr13:52318950-52318951	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs144834465	chr13:52318958-52318959	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555497480	chr13:52318965-52318966	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552983287	chr13:52318973-52318974	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs575628668	chr13:52318982-52318983	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs535512742	chr13:52318985-52318986	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs558213368	chr13:52319031-52319032	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs578060079	chr13:52319129-52319130	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs184256756	chr13:52319184-52319185	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189199529	chr13:52319218-52319219	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs148179531	chr13:52319262-52319263	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs542859247	chr13:52319297-52319298	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs181137009	chr13:52319422-52319423	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs531904230	chr13:52319428-52319429	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs551635225	chr13:52319511-52319512	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs79647266	chr13:52319518-52319519	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs532788141	chr13:52319567-52319568	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs184858214	chr13:52319570-52319571	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs572899376	chr13:52319625-52319626	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs546528957	chr13:52319652-52319653	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs1060562	chr13:52319678-52319679	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535499023	chr13:52319691-52319692	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs4494446	chr13:52319702-52319703	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs57837262	chr13:52319724-52319725	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1060563	chr13:52319808-52319809	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs73199742	chr13:52319829-52319830	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs397851610	chr13:52319875-52319876	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs34880965	chr13:52319900-52319901	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs59291282	chr13:52319938-52319939	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12427748	chr13:52319940-52319941	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs533941445	chr13:52319944-52319945	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs73494139	chr13:52319965-52319966	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574066062	chr13:52319975-52319976	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs543079467	chr13:52320000-52320001	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs376765140	chr13:52320103-52320104	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs375906826	chr13:52320110-52320111	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs56963023	chr13:52320115-52320116	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs556366827	chr13:52320116-52320117	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs59572351	chr13:52320129-52320130	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs576213563	chr13:52320143-52320144	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
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
Acute lymphoblastic leukemia	22237106	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
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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:3664 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52288400-52322200	Weak transcription	K562	blood
2	chr13:52296400-52322200	Weak transcription	Fetal Heart	heart
3	chr13:52298000-52322200	Weak transcription	Fetal Brain Female	brain
4	chr13:52300400-52322200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr13:52300600-52321800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:52304000-52320400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:52305000-52320400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:52305000-52338200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:52305200-52320400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:52305400-52321600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr13:52305400-52321800	Weak transcription	Gastric	stomach
12	chr13:52305800-52322000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr13:52306000-52322200	Weak transcription	Left Ventricle	heart
14	chr13:52306000-52322200	Weak transcription	Right Ventricle	heart
15	chr13:52306200-52321400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr13:52306200-52339000	Weak transcription	Fetal Kidney	kidney
17	chr13:52306400-52320400	Weak transcription	Aorta	Aorta
18	chr13:52308000-52319000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:52308000-52322200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr13:52308200-52322200	Weak transcription	Stomach Mucosa	stomach
21	chr13:52308200-52342800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr13:52308400-52320200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr13:52308400-52321000	Weak transcription	Fetal Intestine Small	intestine
24	chr13:52308400-52326800	Weak transcription	Hela-S3	cervix
25	chr13:52308600-52321000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr13:52309800-52320600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:52309800-52322200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr13:52310000-52321800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr13:52310400-52318800	Weak transcription	Brain Angular Gyrus	brain
30	chr13:52312000-52321400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr13:52312600-52319000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:52312600-52322200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr13:52312800-52318600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr13:52312800-52320400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr13:52312800-52321400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:52313000-52318600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr13:52313000-52319400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr13:52313000-52319400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr13:52313000-52319600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:52313000-52321000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr13:52313000-52321000	Strong transcription	Primary T cells from cord blood	blood
42	chr13:52313200-52319400	Strong transcription	HMEC	breast
43	chr13:52313400-52321600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:52313600-52320000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr13:52313800-52320600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr13:52314000-52319200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:52314000-52321800	Strong transcription	HSMM	muscle
48	chr13:52314000-52322600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr13:52314200-52320400	Weak transcription	Dnd41	blood
50	chr13:52314200-52322200	Weak transcription	A549	lung

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