Variant report

Variant	nsv561644
Chromosome Location	chr13:52302630-52405251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3110)
CpG islands
(count:1651)
Chromatin interactive
region (count:148)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3110 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:52377699-52377908	K562	blood:	n/a	n/a
2	ARID3A	chr13:52338298-52338689	HepG2	liver:	n/a	n/a
3	ARID3A	chr13:52322175-52322518	HepG2	liver:	n/a	n/a
4	ARID3A	chr13:52360278-52360597	K562	blood:	n/a	n/a
5	ARID3A	chr13:52304102-52304367	HepG2	liver:	n/a	n/a
6	ATF1	chr13:52377504-52378523	K562	blood:	n/a	n/a
7	ATF2	chr13:52367562-52368583	GM12878	blood:	n/a	n/a
8	ATF2	chr13:52338747-52339082	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	chr13:52338504-52339189	GM12878	blood:	n/a	n/a
12	ATF2	chr13:52377493-52378555	GM12878	blood:	n/a	chr13:52377912-52377923
13	ATF2	chr13:52371795-52372208	GM12878	blood:	n/a	n/a
14	ATF2	chr13:52377395-52378675	GM12878	blood:	n/a	chr13:52377912-52377923
15	ATF2	chr13:52378085-52378611	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr13:52367573-52368630	GM12878	blood:	n/a	n/a
17	ATF2	chr13:52371704-52372239	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr13:52371741-52372258	GM12878	blood:	n/a	n/a
19	ATF2	chr13:52378117-52378735	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF3	chr13:52377967-52378480	HepG2	liver:	n/a	chr13:52378325-52378338 chr13:52378129-52378138 chr13:52378134-52378154
21	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
22	ATF3	chr13:52378117-52378557	K562	blood:	n/a	chr13:52378325-52378338 chr13:52378129-52378138 chr13:52378134-52378154
23	ATF3	chr13:52367617-52368003	K562	blood:	n/a	n/a
24	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
25	BACH1	chr13:52325359-52325366	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr13:52385138-52385165	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr13:52377614-52378338	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr13:52368442-52368613	K562	blood:	n/a	n/a
29	BACH1	chr13:52367629-52368133	K562	blood:	n/a	n/a
30	BACH1	chr13:52367680-52368031	H1-hESC	embryonic stem cell:	n/a	n/a
31	BATF	chr13:52376365-52376687	GM12878	blood:	n/a	n/a
32	BATF	chr13:52338279-52339016	GM12878	blood:	n/a	n/a
33	BATF	chr13:52338360-52338662	GM12878	blood:	n/a	n/a
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	chr13:52367657-52368346	GM12878	blood:	n/a	chr13:52367823-52367833
37	BATF	chr13:52386320-52386655	GM12878	blood:	n/a	n/a
38	BCL11A	chr13:52368028-52368329	GM12878	blood:	n/a	n/a
39	BCL11A	chr13:52368078-52368335	GM12878	blood:	n/a	n/a
40	BCL3	chr13:52378659-52379103	GM12878	blood:	n/a	n/a
41	BCLAF1	chr13:52367757-52368507	GM12878	blood:	n/a	n/a
42	BCLAF1	chr13:52377446-52378621	GM12878	blood:	n/a	n/a
43	BCLAF1	chr13:52389189-52389541	GM12878	blood:	n/a	n/a
44	BCLAF1	chr13:52393189-52393689	GM12878	blood:	n/a	chr13:52393482-52393491 chr13:52393555-52393564 chr13:52393434-52393443
45	BHLHE40	chr13:52396335-52396544	K562	blood:	n/a	n/a
46	BHLHE40	chr13:52402406-52402650	K562	blood:	n/a	n/a
47	BHLHE40	chr13:52377407-52378652	GM12878	blood:	n/a	n/a
48	BHLHE40	chr13:52343023-52343159	K562	blood:	n/a	n/a
49	BHLHE40	chr13:52389258-52389874	HepG2	liver:	n/a	n/a
50	BHLHE40	chr13:52389183-52389555	K562	blood:	n/a	n/a

(count:1651 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:52336040-52336090	AG04449	skin:	fetal
2	chr13:52392151-52392201	Jurkat	blood:	n/a
3	chr13:52305991-52306041	AG09309	skin:	n/a
4	chr13:52378287-52378337	HepG2	liver:	n/a
5	chr13:52336040-52336090	AG04449	skin:	fetal
6	chr13:52392151-52392201	Jurkat	blood:	n/a
7	chr13:52305991-52306041	AG09309	skin:	n/a
8	chr13:52378287-52378337	HepG2	liver:	n/a
9	chr13:52378323-52378373	HMEC	breast:	n/a
10	chr13:52360268-52360318	SK-N-SH_RA	brain:	n/a
11	chr13:52378323-52378373	GM12891	blood:	n/a
12	chr13:52378744-52378794	Hela-S3	cervix:	n/a
13	chr13:52303132-52303182	HNPCEpiC	eye:	n/a
14	chr13:52343378-52343428	ProgFib	skin:	n/a
15	chr13:52378294-52378344	AG09319	gingival:	n/a
16	chr13:52392151-52392201	HRE	kidney:	n/a
17	chr13:52345302-52345352	AG09319	gingival:	n/a
18	chr13:52378323-52378373	HCT-116	colon:	n/a
19	chr13:52378294-52378344	PrEC	prostate:	n/a
20	chr13:52378744-52378794	SK-N-SH	brain:	n/a
21	chr13:52378744-52378794	HRE	kidney:	n/a
22	chr13:52378294-52378344	BE2_C	brain:	n/a
23	chr13:52378305-52378355	BJ	skin:	n/a
24	chr13:52378480-52378530	LNCaP	prostate:	n/a
25	chr13:52378319-52378369	A549	lung:	n/a
26	chr13:52336040-52336090	T-47D	breast:	n/a
27	chr13:52392151-52392201	HRPEpiC	eye:	n/a
28	chr13:52342380-52342430	Caco-2	colon:	n/a
29	chr13:52371236-52371286	HUVEC	blood vessel:	n/a
30	chr13:52343307-52343357	BE2_C	brain:	n/a
31	chr13:52378305-52378355	SK-N-SH	brain:	n/a
32	chr13:52378323-52378373	HL-60	blood:	n/a
33	chr13:52378305-52378355	AG09319	gingival:	n/a
34	chr13:52378480-52378530	BJ	skin:	n/a
35	chr13:52378555-52378605	PANC-1	pancreas:	n/a
36	chr13:52345302-52345352	PANC-1	pancreas:	n/a
37	chr13:52342380-52342430	IMR90	lung:	fetal
38	chr13:52338758-52338808	HCM	heart:	n/a
39	chr13:52377825-52377875	HL-60	blood:	n/a
40	chr13:52377730-52377780	SK-N-SH_RA	brain:	n/a
41	chr13:52375776-52375826	NHBE	bronchial:	n/a
42	chr13:52378179-52378229	Jurkat	blood:	n/a
43	chr13:52378319-52378369	GM12892	blood:	n/a
44	chr13:52338758-52338808	SK-N-MC	brain:	n/a
45	chr13:52336040-52336090	HCPEpiC	choroid plexus:	n/a
46	chr13:52378744-52378794	HEK293	kidney:	embryo
47	chr13:52338758-52338808	ProgFib	skin:	n/a
48	chr13:52303132-52303182	BE2_C	brain:	n/a
49	chr13:52371236-52371286	NHDF-neo	bronchial:	n/a
50	chr13:52381961-52382011	BJ	skin:	n/a

(count:148 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr13:52378222..52381026-chr13:52393524..52396467,2	MCF-7	breast:
2	chr13:52025721..52028178-chr13:52344318..52347110,2	K562	blood:
3	chr13:52374427..52380555-chr13:52387086..52391599,9	MCF-7	breast:
4	chr13:52024953..52028665-chr13:52311565..52316008,5	MCF-7	breast:
5	chr13:52017972..52021506-chr13:52306164..52308268,4	MCF-7	breast:
6	chr13:52015156..52017204-chr13:52376088..52377740,2	MCF-7	breast:
7	chr13:52337387..52338953-chr13:52340888..52343879,2	MCF-7	breast:
8	chr13:51708388..51710526-chr13:52384073..52385619,2	K562	blood:
9	chr13:52161646..52163568-chr13:52308170..52310143,2	MCF-7	breast:
10	chr13:52008831..52009730-chr13:52371598..52372485,2	MCF-7	breast:
11	chr13:52018094..52022677-chr13:52372032..52375431,6	MCF-7	breast:
12	chr13:52022276..52028052-chr13:52350866..52359408,15	MCF-7	breast:
13	chr13:52158523..52160534-chr13:52305074..52307516,3	MCF-7	breast:
14	chr13:52361705..52366550-chr13:52366781..52371643,5	MCF-7	breast:
15	chr13:52004260..52005821-chr13:52369887..52371533,2	K562	blood:
16	chr13:52025629..52027975-chr13:52332211..52334201,2	MCF-7	breast:
17	chr13:52018773..52019683-chr13:52305733..52306632,3	MCF-7	breast:
18	chr13:52388590..52390745-chr13:52574163..52575780,2	MCF-7	breast:
19	chr13:52387525..52389920-chr13:52398590..52400891,3	K562	blood:
20	chr13:52336715..52338820-chr13:52345525..52347839,2	MCF-7	breast:
21	chr13:52158562..52160088-chr13:52305869..52307689,2	MCF-7	breast:
22	chr13:52158563..52160769-chr13:52355265..52357918,2	MCF-7	breast:
23	chr13:52025304..52027492-chr13:52329692..52332817,3	MCF-7	breast:
24	chr13:52377421..52378345-chr6:27100484..27100989,2	HCT-116	colon:
25	chr13:52024578..52027294-chr13:52317199..52320461,4	K562	blood:
26	chr13:52356403..52357979-chr13:52360988..52363353,2	MCF-7	breast:
27	chr13:52160060..52162638-chr13:52376878..52378456,2	K562	blood:
28	chr13:52019140..52019725-chr13:52355579..52356254,2	MCF-7	breast:
29	chr13:52353786..52355970-chr13:52358653..52360551,2	K562	blood:
30	chr13:52377335..52378174-chr13:52702786..52703324,2	K562	blood:
31	chr13:52380223..52382865-chr13:52393568..52395438,2	K562	blood:
32	chr13:52377651..52379551-chr13:52768569..52770283,3	MCF-7	breast:
33	chr13:52388965..52389862-chr13:52701684..52702477,3	K562	blood:
34	chr13:52309697..52311273-chr13:52321777..52323610,2	K562	blood:
35	chr13:52370681..52375031-chr13:52376464..52379694,5	MCF-7	breast:
36	chr13:52402539..52404938-chr13:52405246..52407174,2	MCF-7	breast:
37	chr13:51871805..51872313-chr13:52371607..52372516,2	MCF-7	breast:
38	chr13:52362645..52365632-chr13:52377625..52381040,3	K562	blood:
39	chr13:52318115..52320342-chr13:52321989..52324210,2	MCF-7	breast:
40	chr13:52337387..52338953-chr13:52340888..52343879,2	MCF-7	breast:
41	chr13:52368289..52369095-chr13:52377822..52378429,2	NB4	blood:
42	chr13:52025138..52029754-chr13:52357567..52361649,5	MCF-7	breast:
43	chr13:52368810..52370322-chr13:52370429..52372255,2	MCF-7	breast:
44	chr13:52354659..52356461-chr13:52357844..52360753,2	MCF-7	breast:
45	chr13:52389338..52389872-chr13:52775197..52776130,2	K562	blood:
46	chr13:52300204..52302832-chr13:52303921..52305515,2	MCF-7	breast:
47	chr13:52327041..52329253-chr13:52330642..52332442,2	K562	blood:
48	chr13:52306622..52308491-chr13:52312181..52314220,2	MCF-7	breast:
49	chr13:52025709..52029684-chr13:52361886..52365561,3	MCF-7	breast:
50	chr13:52196868..52198999-chr13:52337488..52339399,2	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000231856	TF binding region
WDFY2	TF binding region
DHRS12	TF binding region
ENSG00000231856	CpG island
WDFY2	CpG island
DHRS12	CpG island
ENSG00000102796	chromatin interactions
ENSG00000136108	chromatin interactions
ENSG00000243406	chromatin interactions
ENSG00000123171	chromatin interactions
ENSG00000255561	chromatin interactions
ENSG00000167182	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000224892	chromatin interactions
ENSG00000206920	chromatin interactions
ENSG00000258529	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000122884	chromatin interactions
ENSG00000197168	chromatin interactions
ENSG00000156502	chromatin interactions
ENSG00000137720	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000231856	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000139668	chromatin interactions
CABYR	miRNA target sites

Extended variants
information (count: 3615 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:3615 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7329391	chr13:52302630-52302631	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544207142	chr13:52302651-52302652	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs564401948	chr13:52302652-52302653	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs114639409	chr13:52302761-52302762	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs149345068	chr13:52302766-52302767	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs529389441	chr13:52302860-52302861	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs560478803	chr13:52302926-52302927	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs373809262	chr13:52302931-52302932	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs529422346	chr13:52302949-52302950	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs144697481	chr13:52302960-52302961	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs569499633	chr13:52302962-52302963	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs538417153	chr13:52302997-52302998	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs374336494	chr13:52303002-52303003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs73494135	chr13:52303007-52303008	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534177891	chr13:52303013-52303014	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs552568566	chr13:52303050-52303051	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs184168436	chr13:52303103-52303104	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs190268676	chr13:52303112-52303113	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs9563069	chr13:52303139-52303140	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs142961530	chr13:52303193-52303194	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs146637579	chr13:52303211-52303212	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs564079299	chr13:52303247-52303248	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs375535659	chr13:52303273-52303274	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs540498867	chr13:52303341-52303342	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs560495666	chr13:52303342-52303343	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs116145373	chr13:52303344-52303345	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs549531499	chr13:52303416-52303417	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs538832823	chr13:52303417-52303418	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs562989424	chr13:52303494-52303495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs200203361	chr13:52303498-52303499	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs372924310	chr13:52303548-52303549	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs140109785	chr13:52303583-52303584	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs116235297	chr13:52303588-52303589	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs571718279	chr13:52303625-52303626	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs181960659	chr13:52303654-52303655	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs187594796	chr13:52303656-52303657	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs189117210	chr13:52303697-52303698	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs181050759	chr13:52303699-52303700	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs555090273	chr13:52303700-52303701	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs61958307	chr13:52303739-52303740	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs537503925	chr13:52303778-52303779	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs55687930	chr13:52303809-52303810	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185699819	chr13:52303879-52303880	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs540560388	chr13:52303916-52303917	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs75319869	chr13:52303967-52303968	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs574121726	chr13:52303968-52303969	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs543037821	chr13:52304004-52304005	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs562691152	chr13:52304011-52304012	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs143845676	chr13:52304039-52304040	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs115907097	chr13:52304045-52304046	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Non-syndromic sensorineural hearing loss	22037309	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:4403 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52249400-52307600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr13:52279400-52303000	Weak transcription	Lung	lung
3	chr13:52279600-52304000	Weak transcription	Esophagus	oesophagus
4	chr13:52288400-52322200	Weak transcription	K562	blood
5	chr13:52288600-52303000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:52289400-52305800	Weak transcription	Fetal Kidney	kidney
7	chr13:52290000-52307600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:52291400-52303000	Weak transcription	Fetal Stomach	stomach
9	chr13:52292200-52304400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:52292400-52304400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:52293200-52303200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:52293600-52307600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr13:52294200-52304400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr13:52294600-52302800	Weak transcription	HMEC	breast
15	chr13:52295600-52304600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:52296000-52303000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr13:52296000-52303000	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:52296000-52303000	Weak transcription	Spleen	Spleen
19	chr13:52296000-52304400	Weak transcription	Right Ventricle	heart
20	chr13:52296000-52304400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr13:52296000-52307600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:52296200-52303000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr13:52296200-52303000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr13:52296200-52303600	Weak transcription	Aorta	Aorta
25	chr13:52296200-52303600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr13:52296400-52303200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:52296400-52322200	Weak transcription	Fetal Heart	heart
28	chr13:52297000-52311800	Weak transcription	GM12878-XiMat	blood
29	chr13:52297400-52305800	Strong transcription	Primary B cells from cord blood	blood
30	chr13:52298000-52304000	Weak transcription	Fetal Brain Male	brain
31	chr13:52298000-52322200	Weak transcription	Fetal Brain Female	brain
32	chr13:52298400-52302800	Strong transcription	NHEK	skin
33	chr13:52298400-52307600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr13:52298600-52303000	Weak transcription	Fetal Intestine Small	intestine
35	chr13:52298600-52303600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:52299600-52302800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:52299600-52302800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr13:52300000-52302800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr13:52300000-52303000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr13:52300000-52303000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr13:52300000-52303200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr13:52300000-52303200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:52300000-52303600	Strong transcription	HepG2	liver
44	chr13:52300000-52303800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr13:52300000-52305200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr13:52300000-52305200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:52300200-52303200	Genic enhancers	Osteobl	bone
48	chr13:52300200-52303400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr13:52300200-52305400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr13:52300200-52306400	Enhancers	Liver	Liver

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