Variant report

Variant	nsv881136
Chromosome Location	chr5:36976160-37029885
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	chr5:37006632-37006811	K562	blood:	n/a	n/a
2	ARID3A	chr5:37002178-37002846	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:37006056-37006376	K562	blood:	n/a	n/a
4	ATF1	chr5:36999925-37000005	K562	blood:	n/a	n/a
5	ATF2	chr5:36998676-36999169	GM12878	blood:	n/a	n/a
6	ATF2	chr5:36998719-36999066	GM12878	blood:	n/a	n/a
7	BATF	chr5:36998569-36998958	GM12878	blood:	n/a	n/a
8	CCNT2	chr5:36982251-36982514	K562	blood:	n/a	n/a
9	CCNT2	chr5:36980063-36980115	K562	blood:	n/a	n/a
10	CCNT2	chr5:36998617-36998708	K562	blood:	n/a	n/a
11	CEBPB	chr5:37016444-37016893	IMR90	lung:	n/a	chr5:37016714-37016725 chr5:37016712-37016725
12	CEBPB	chr5:37029034-37029373	IMR90	lung:	n/a	chr5:37029195-37029206
13	CEBPB	chr5:36993961-36994063	HepG2	liver:	n/a	chr5:36993984-36993997 chr5:36993985-36993996 chr5:36993984-36993995
14	CEBPB	chr5:36982317-36982544	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr5:37002663-37002913	A549	lung:	n/a	chr5:37002769-37002780
16	CEBPB	chr5:37029056-37029373	HepG2	liver:	n/a	chr5:37029195-37029206
17	CEBPB	chr5:37029035-37029370	A549	lung:	n/a	chr5:37029195-37029206
18	CEBPB	chr5:37029037-37029346	K562	blood:	n/a	chr5:37029195-37029206
19	CEBPB	chr5:37002298-37002962	Hela-S3	cervix:	n/a	chr5:37002769-37002780
20	CEBPB	chr5:37002468-37002913	HepG2	liver:	n/a	chr5:37002769-37002780
21	CEBPB	chr5:37015819-37016038	HepG2	liver:	n/a	chr5:37015922-37015935 chr5:37015922-37015933
22	CREB1	chr5:36998600-36999215	GM12878	blood:	n/a	n/a
23	CREB1	chr5:36998699-36999144	GM12878	blood:	n/a	n/a
24	CTCF	chr5:37002340-37002490	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr5:37006117-37006362	Lung_OC	lung:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
26	CTCF	chr5:37006150-37006349	LNCaP	prostate:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
27	CTCF	chr5:37006132-37006299	SK-N-SH_RA	brain:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
28	CTCF	chr5:37005892-37006428	K562	blood:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
29	CTCF	chr5:37006179-37006339	MCF-7	breast:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
30	CTCF	chr5:37006160-37006310	SK-N-SH_RA	brain:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
31	CTCF	chr5:37002360-37002510	HepG2	liver:	n/a	n/a
32	CTCF	chr5:37006482-37006572	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr5:37002340-37002490	Caco-2	colon:	n/a	n/a
34	CTCF	chr5:37006200-37006350	HCM	heart:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
35	CTCF	chr5:37006220-37006370	WERI-Rb-1	eye:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
36	CTCF	chr5:37006180-37006330	HMF	breast:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
37	CTCF	chr5:37006180-37006330	RPTEC	kidney:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
38	CTCF	chr5:37006140-37006290	GM12866	blood:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
39	CTCF	chr5:37006160-37006310	HAc	cerebellar:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
40	CTCF	chr5:37002360-37002510	A549	lung:	n/a	n/a
41	CTCF	chr5:36983700-36983850	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr5:37006220-37006370	HA-sp	spinal cord:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
43	CTCF	chr5:37006159-37006339	GM10248	blood:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
44	CTCF	chr5:37006132-37006346	K562	blood:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
45	CTCF	chr5:37006200-37006350	GM12871	blood:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
46	CTCF	chr5:37002440-37002590	BE2_C	brain:	n/a	n/a
47	CTCF	chr5:37006107-37006384	Medullo	brain:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
48	CTCF	chr5:37006220-37006370	GM12869	blood:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
49	CTCF	chr5:37006160-37006310	GM06990	blood:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246
50	CTCF	chr5:37006160-37006310	SAEC	small airway:	n/a	chr5:37006234-37006242 chr5:37006229-37006247 chr5:37006224-37006245 chr5:37006230-37006246

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:36986137-36986187	HEK293	kidney:	embryo
2	chr5:37014180-37014230	HRE	kidney:	n/a
3	chr5:37014180-37014230	AG09309	skin:	n/a
4	chr5:37014180-37014230	ProgFib	skin:	n/a
5	chr5:37014180-37014230	HEK293	kidney:	embryo
6	chr5:37014180-37014230	SKMC	muscle:	n/a
7	chr5:37014180-37014230	SK-N-MC	brain:	n/a
8	chr5:37014180-37014230	HCPEpiC	choroid plexus:	n/a
9	chr5:36985656-36985706	LNCaP	prostate:	n/a
10	chr5:36986137-36986187	SK-N-MC	brain:	n/a
11	chr5:36985656-36985706	SK-N-SH_RA	brain:	n/a
12	chr5:36986137-36986187	MCF-7	breast:	n/a
13	chr5:36986137-36986187	NT2-D1	testis:	n/a
14	chr5:36985656-36985706	BJ	skin:	n/a
15	chr5:36986137-36986187	HRE	kidney:	n/a
16	chr5:36986137-36986187	AG10803	skin:	n/a
17	chr5:36985656-36985706	NB4	blood:	n/a
18	chr5:36985656-36985706	HAEpiC	amniotic membrane:	n/a
19	chr5:36985656-36985706	HEK293	kidney:	embryo
20	chr5:37014180-37014230	NH-A	brain:	n/a
21	chr5:36986137-36986187	ovcar-3	ovarian:	n/a
22	chr5:37014180-37014230	HMEC	breast:	n/a
23	chr5:36986137-36986187	NHBE	bronchial:	n/a
24	chr5:36985656-36985706	H1-hESC	embryonic stem cell:	embryo
25	chr5:37014180-37014230	AG09319	gingival:	n/a
26	chr5:36985656-36985706	HL-60	blood:	n/a
27	chr5:36985656-36985706	HCPEpiC	choroid plexus:	n/a
28	chr5:36985656-36985706	AG09309	skin:	n/a
29	chr5:37014180-37014230	HRCEpiC	kidney:	n/a
30	chr5:36986137-36986187	IMR90	lung:	fetal
31	chr5:36986137-36986187	ProgFib	skin:	n/a
32	chr5:36985656-36985706	ECC-1	luminal epithelium:	n/a
33	chr5:37014180-37014230	AG04450	lung:	fetal
34	chr5:37014180-37014230	PANC-1	pancreas:	n/a
35	chr5:37014180-37014230	U87	brain:	n/a
36	chr5:37014180-37014230	Jurkat	blood:	n/a
37	chr5:37014180-37014230	MCF10A-Er-Src	breast:	n/a
38	chr5:37014180-37014230	Hepatocyte	liver:	n/a
39	chr5:36986137-36986187	AG04449	skin:	fetal
40	chr5:36986137-36986187	Jurkat	blood:	n/a
41	chr5:36986137-36986187	K562	blood:	n/a
42	chr5:36985656-36985706	A549	lung:	n/a
43	chr5:36985656-36985706	HRE	kidney:	n/a
44	chr5:37014180-37014230	HL-60	blood:	n/a
45	chr5:37014180-37014230	Hela-S3	cervix:	n/a
46	chr5:37014180-37014230	NT2-D1	testis:	n/a
47	chr5:37014180-37014230	HepG2	liver:	n/a
48	chr5:36985656-36985706	Hela-S3	cervix:	n/a
49	chr5:37014180-37014230	SAEC	small airway:	n/a
50	chr5:37014180-37014230	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:36876643..36878544-chr5:36988862..36990983,2	MCF-7	breast:
2	chr5:36975370..36977212-chr5:36981265..36983072,2	MCF-7	breast:
3	chr5:36973522..36975991-chr5:36979839..36981489,2	MCF-7	breast:
4	chr5:36744805..36746401-chr5:36997708..36999991,2	MCF-7	breast:
5	chr5:36971660..36974021-chr5:36977884..36980284,2	K562	blood:
6	chr5:37024346..37029453-chr5:37031923..37035955,4	K562	blood:
7	chr5:36980489..36983193-chr5:36983998..36987194,3	K562	blood:
8	chr5:36743938..36745907-chr5:36986468..36988860,2	MCF-7	breast:
9	chr5:37015380..37017502-chr5:37021890..37025377,3	K562	blood:
10	chr5:36738583..36742028-chr5:37005460..37008682,3	K562	blood:
11	chr5:36728670..36729725-chr5:37005785..37006901,3	MCF-7	breast:
12	chr5:36979203..36982071-chr5:36982407..36984591,2	MCF-7	breast:
13	chr5:37014427..37017404-chr5:37017872..37020445,3	K562	blood:
14	chr5:37014667..37016465-chr5:37026836..37029191,2	K562	blood:
15	chr5:37014427..37017404-chr5:37017872..37020445,3	K562	blood:
16	chr5:36984839..36987108-chr5:36990813..36992695,2	MCF-7	breast:
17	chr5:36980489..36983193-chr5:36983998..36987194,3	K562	blood:
18	chr5:37014667..37016465-chr5:37026836..37029191,2	K562	blood:
19	chr5:36994814..36997179-chr5:37008885..37010934,2	K562	blood:
20	chr5:36874857..36877485-chr5:36989379..36990958,2	MCF-7	breast:
21	chr5:36982523..36985797-chr5:36985897..36989039,3	K562	blood:
22	chr5:36876258..36877822-chr5:37004568..37007487,2	MCF-7	breast:
23	chr5:36980854..36983652-chr5:37007051..37009220,2	K562	blood:
24	chr5:36987049..36989193-chr5:36992034..36994434,2	MCF-7	breast:
25	chr5:36743568..36746318-chr5:37004430..37006314,2	MCF-7	breast:
26	chr5:37025436..37027538-chr5:37042888..37045586,2	K562	blood:
27	chr5:36740003..36742433-chr5:37003090..37005628,2	MCF-7	breast:
28	chr5:36984035..36986257-chr5:36992707..36994891,2	K562	blood:
29	chr5:37027894..37031584-chr5:37032093..37035843,4	K562	blood:
30	chr5:36979639..36981390-chr5:36990947..36992768,2	K562	blood:
31	chr5:36979639..36981390-chr5:36990947..36992768,2	K562	blood:
32	chr5:37015380..37017502-chr5:37021890..37025377,3	K562	blood:
33	chr5:36743906..36746722-chr5:37004914..37007847,3	MCF-7	breast:
34	chr5:36984839..36987108-chr5:36990813..36992695,2	MCF-7	breast:
35	chr5:36995296..36997547-chr5:36999324..37001230,2	K562	blood:
36	chr5:36975370..36977212-chr5:36981265..36983072,2	MCF-7	breast:
37	chr5:36987049..36989193-chr5:36992034..36994434,2	MCF-7	breast:
38	chr5:36991420..36994438-chr5:36995617..36998219,3	K562	blood:
39	chr5:36876833..36878343-chr5:36989470..36991445,2	K562	blood:
40	chr5:36980854..36983652-chr5:37007051..37009220,2	K562	blood:
41	chr5:36874429..36878345-chr5:36984473..36987380,3	MCF-7	breast:
42	chr5:37009245..37010939-chr5:37023761..37025926,2	K562	blood:
43	chr5:36870958..36873840-chr5:36982182..36984989,2	MCF-7	breast:
44	chr5:36982523..36985797-chr5:36985897..36989039,3	K562	blood:
45	chr5:36989118..36992920-chr5:36994202..36998219,3	K562	blood:
46	chr5:36874795..36877504-chr5:36976184..36978403,2	MCF-7	breast:
47	chr5:36744657..36745458-chr5:37006187..37006735,2	MCF-7	breast:
48	chr5:36265612..36266113-chr5:37006206..37006706,2	K562	blood:
49	chr5:36979203..36982071-chr5:36982407..36984591,2	MCF-7	breast:
50	chr5:36984035..36986257-chr5:36992707..36994891,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location
1	NIPBL	hsa-let-7a-5p	chr5:36996581-36996603
2	NIPBL	hsa-let-7b-5p	chr5:36996581-36996603
3	NIPBL	hsa-miR-183-5p	chr5:36996864-36996887

Variant related genes	Relation type
NIPBL	TF binding region
NIPBL	CpG island
ENSG00000164190	chromatin interactions

Extended variants
information (count: 1953 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1953 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2291703	chr5:36976160-36976161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531372615	chr5:36976211-36976212	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560785308	chr5:36976219-36976220	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs80358349	chr5:36976221-36976222	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141010980	chr5:36976237-36976238	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546539357	chr5:36976238-36976239	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571300383	chr5:36976243-36976244	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372266009	chr5:36976244-36976245	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375514857	chr5:36976252-36976253	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538985170	chr5:36976263-36976264	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs202230820	chr5:36976284-36976285	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144853101	chr5:36976330-36976331	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34453758	chr5:36976333-36976334	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138765912	chr5:36976334-36976335	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200785457	chr5:36976352-36976353	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536363403	chr5:36976373-36976374	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141937865	chr5:36976375-36976376	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150837768	chr5:36976385-36976386	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374905176	chr5:36976386-36976387	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555179389	chr5:36976401-36976402	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs80358382	chr5:36976454-36976455	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs188309267	chr5:36976497-36976498	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527571160	chr5:36976509-36976510	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs398124464	chr5:36976512-36976513	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192155566	chr5:36976542-36976543	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376431793	chr5:36976592-36976593	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559251798	chr5:36976617-36976618	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370233031	chr5:36976620-36976621	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577469226	chr5:36976683-36976684	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544958964	chr5:36976705-36976706	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373652755	chr5:36976720-36976721	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs184578029	chr5:36976744-36976745	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575286583	chr5:36976766-36976767	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs72734702	chr5:36976776-36976777	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs370363212	chr5:36976784-36976785	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190258804	chr5:36976805-36976806	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149459	chr5:36976958-36976959	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148472291	chr5:36976982-36976983	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565141868	chr5:36976989-36976990	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs13163996	chr5:36977003-36977004	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368377104	chr5:36977009-36977010	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192473286	chr5:36977040-36977041	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs569185066	chr5:36977059-36977060	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs72736703	chr5:36977105-36977106	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143750073	chr5:36977155-36977156	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555096093	chr5:36977183-36977184	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566978520	chr5:36977190-36977191	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs116797084	chr5:36977218-36977219	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559214917	chr5:36977262-36977263	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571088130	chr5:36977361-36977362	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1442 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36940600-36985400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:36946400-36978000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:36948400-36985800	Weak transcription	Colonic Mucosa	Colon
4	chr5:36948600-36996600	Weak transcription	HSMMtube	muscle
5	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:36951400-37004400	Weak transcription	Right Ventricle	heart
7	chr5:36952200-36985000	Weak transcription	Small Intestine	intestine
8	chr5:36954200-36978200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:36954200-36979800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:36954400-36978200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:36954400-37026400	Weak transcription	Pancreas	Pancrea
12	chr5:36954600-36979000	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:36954800-37023600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:36955200-36977000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:36955200-36977800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:36955200-36978200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:36955200-36978200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr5:36955400-36977800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr5:36955400-37010400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:36957000-36977800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:36957600-36985400	Weak transcription	Esophagus	oesophagus
22	chr5:36959200-36977600	Strong transcription	Dnd41	blood
23	chr5:36959400-36988800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:36959400-36996800	Weak transcription	Gastric	stomach
25	chr5:36961600-36977400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:36961600-36977800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:36961600-36978000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:36961600-36978400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:36961600-36978400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr5:36961600-36979400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:36962000-36977800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:36962400-37028400	Weak transcription	Spleen	Spleen
33	chr5:36964000-36984800	Weak transcription	Ovary	ovary
34	chr5:36965400-36981800	Weak transcription	NHEK	skin
35	chr5:36965800-37018600	Weak transcription	Psoas Muscle	Psoas
36	chr5:36966000-36998800	Weak transcription	Fetal Heart	heart
37	chr5:36967400-36978200	Strong transcription	Placenta	Placenta
38	chr5:36967800-36978200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:36968200-36976200	Weak transcription	Fetal Lung	lung
40	chr5:36968400-36977000	Strong transcription	Adipose Nuclei	Adipose
41	chr5:36968600-36976800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:36968800-36977600	Weak transcription	Fetal Intestine Small	intestine
43	chr5:36968800-36984800	Weak transcription	Fetal Stomach	stomach
44	chr5:36968800-36996200	Weak transcription	Lung	lung
45	chr5:36968800-37031200	Weak transcription	Aorta	Aorta
46	chr5:36969400-36977400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr5:36969600-36976800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:36969600-36977000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:36969800-36979200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:36969800-37065000	Weak transcription	Stomach Mucosa	stomach

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