Variant report

Variant	nsv984479
Chromosome Location	chr13:111157297-111176429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:531)
CpG islands
(count:978)
Chromatin interactive
region (count:34)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:7)

(count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:111159493-111159911	K562	blood:	n/a	n/a
2	ARID3A	chr13:111161798-111162280	K562	blood:	n/a	n/a
3	ATF1	chr13:111161881-111162845	K562	blood:	n/a	n/a
4	ATF2	chr13:111167915-111168366	GM12878	blood:	n/a	n/a
5	BATF	chr13:111167970-111168377	GM12878	blood:	n/a	chr13:111168111-111168119
6	BHLHE40	chr13:111168043-111168267	GM12878	blood:	n/a	n/a
7	BHLHE40	chr13:111161881-111163113	K562	blood:	n/a	n/a
8	BHLHE40	chr13:111159371-111160094	K562	blood:	n/a	n/a
9	BHLHE40	chr13:111163922-111164155	K562	blood:	n/a	n/a
10	BHLHE40	chr13:111167561-111167707	GM12878	blood:	n/a	n/a
11	CBX3	chr13:111161867-111162192	K562	blood:	n/a	n/a
12	CBX3	chr13:111161794-111162310	K562	blood:	n/a	n/a
13	CBX3	chr13:111162464-111163146	K562	blood:	n/a	n/a
14	CBX3	chr13:111159277-111159973	K562	blood:	n/a	n/a
15	CBX3	chr13:111158789-111159233	K562	blood:	n/a	n/a
16	CCNT2	chr13:111159493-111160053	K562	blood:	n/a	n/a
17	CCNT2	chr13:111161872-111162172	K562	blood:	n/a	n/a
18	CCNT2	chr13:111162614-111162895	K562	blood:	n/a	chr13:111162674-111162683
19	CCNT2	chr13:111163810-111164238	K562	blood:	n/a	n/a
20	CEBPB	chr13:111174294-111174581	H1-hESC	embryonic stem cell:	n/a	chr13:111174440-111174453
21	CEBPB	chr13:111169895-111170214	A549	lung:	n/a	chr13:111170038-111170049 chr13:111170040-111170051
22	CEBPB	chr13:111174332-111174559	K562	blood:	n/a	chr13:111174440-111174453
23	CEBPB	chr13:111159458-111159838	MCF-7	breast:	n/a	n/a
24	CEBPB	chr13:111169867-111170213	HepG2	liver:	n/a	chr13:111170038-111170049 chr13:111170040-111170051
25	CEBPB	chr13:111174304-111174611	A549	lung:	n/a	chr13:111174440-111174453
26	CEBPB	chr13:111174281-111174614	IMR90	lung:	n/a	chr13:111174440-111174453
27	CEBPB	chr13:111159398-111159806	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr13:111174292-111174595	Hela-S3	cervix:	n/a	chr13:111174440-111174453
29	CEBPB	chr13:111169949-111170210	K562	blood:	n/a	chr13:111170038-111170049 chr13:111170040-111170051
30	CEBPB	chr13:111159552-111159908	K562	blood:	n/a	n/a
31	CEBPB	chr13:111159457-111159819	K562	blood:	n/a	n/a
32	CEBPB	chr13:111169887-111170243	IMR90	lung:	n/a	chr13:111170038-111170049 chr13:111170040-111170051
33	CEBPB	chr13:111161870-111162167	K562	blood:	n/a	n/a
34	CEBPB	chr13:111161844-111162175	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr13:111174385-111174636	A549	lung:	n/a	chr13:111174440-111174453
36	CEBPB	chr13:111174272-111174617	HepG2	liver:	n/a	chr13:111174440-111174453
37	CEBPB	chr13:111161898-111162206	K562	blood:	n/a	n/a
38	CEBPB	chr13:111174304-111174565	MCF-7	breast:	n/a	chr13:111174440-111174453
39	CEBPB	chr13:111169860-111170247	Hela-S3	cervix:	n/a	chr13:111170038-111170049 chr13:111170040-111170051
40	CEBPB	chr13:111173062-111173435	IMR90	lung:	n/a	n/a
41	CEBPB	chr13:111174270-111174621	K562	blood:	n/a	chr13:111174440-111174453
42	CEBPD	chr13:111159467-111160105	K562	blood:	n/a	n/a
43	CEBPD	chr13:111161813-111162279	K562	blood:	n/a	n/a
44	CEBPD	chr13:111159490-111160117	K562	blood:	n/a	n/a
45	CEBPD	chr13:111161768-111162301	K562	blood:	n/a	n/a
46	CHD2	chr13:111159475-111159908	K562	blood:	n/a	n/a
47	CHD2	chr13:111159187-111159219	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr13:111159519-111159805	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr13:111160140-111160290	GM12873	blood:	n/a	chr13:111160167-111160176
50	CTCF	chr13:111163472-111163493	LNCaP	prostate:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:111158919-111158969	HRE	kidney:	n/a
2	chr13:111175670-111175720	U87	brain:	n/a
3	chr13:111158919-111158969	HRE	kidney:	n/a
4	chr13:111175670-111175720	U87	brain:	n/a
5	chr13:111158919-111158969	RPTEC	kidney:	n/a
6	chr13:111165437-111165487	H1-hESC	embryonic stem cell:	embryo
7	chr13:111164367-111164417	NHBE	bronchial:	n/a
8	chr13:111164702-111164752	IMR90	lung:	fetal
9	chr13:111163978-111164028	SK-N-SH_RA	brain:	n/a
10	chr13:111158814-111158864	T-47D	breast:	n/a
11	chr13:111159111-111159161	LNCaP	prostate:	n/a
12	chr13:111166833-111166883	HIPEpiC	eye:	n/a
13	chr13:111163978-111164028	MCF10A-Er-Src	breast:	n/a
14	chr13:111173329-111173379	SK-N-SH	brain:	n/a
15	chr13:111158919-111158969	ProgFib	skin:	n/a
16	chr13:111164966-111165016	AG09319	gingival:	n/a
17	chr13:111164966-111165016	Hepatocyte	liver:	n/a
18	chr13:111161943-111161993	ProgFib	skin:	n/a
19	chr13:111166833-111166883	HPAEpiC	pulmonary alveolar:	n/a
20	chr13:111164546-111164596	NH-A	brain:	n/a
21	chr13:111175670-111175720	HCT-116	colon:	n/a
22	chr13:111164966-111165016	HNPCEpiC	eye:	n/a
23	chr13:111166833-111166883	SKMC	muscle:	n/a
24	chr13:111161943-111161993	Jurkat	blood:	n/a
25	chr13:111165437-111165487	HPAEpiC	pulmonary alveolar:	n/a
26	chr13:111163978-111164028	HEK293	kidney:	embryo
27	chr13:111165437-111165487	HMEC	breast:	n/a
28	chr13:111173329-111173379	AG10803	skin:	n/a
29	chr13:111165437-111165487	MCF-7	breast:	n/a
30	chr13:111166833-111166883	Caco-2	colon:	n/a
31	chr13:111175670-111175720	ProgFib	skin:	n/a
32	chr13:111165437-111165487	NHBE	bronchial:	n/a
33	chr13:111160399-111160449	LNCaP	prostate:	n/a
34	chr13:111165419-111165469	NHBE	bronchial:	n/a
35	chr13:111161943-111161993	HEEpiC	esophagus:	n/a
36	chr13:111165437-111165487	HRPEpiC	eye:	n/a
37	chr13:111159111-111159161	ECC-1	luminal epithelium:	n/a
38	chr13:111164702-111164752	HPAEpiC	pulmonary alveolar:	n/a
39	chr13:111165419-111165469	HEK293	kidney:	embryo
40	chr13:111159111-111159161	Caco-2	colon:	n/a
41	chr13:111164367-111164417	AG04449	skin:	fetal
42	chr13:111175670-111175720	H1-hESC	embryonic stem cell:	embryo
43	chr13:111166833-111166883	GM12878	blood:	n/a
44	chr13:111161943-111161993	ECC-1	luminal epithelium:	n/a
45	chr13:111160399-111160449	HUVEC	blood vessel:	n/a
46	chr13:111164546-111164596	ovcar-3	ovarian:	n/a
47	chr13:111163978-111164028	LNCaP	prostate:	n/a
48	chr13:111158814-111158864	HCM	heart:	n/a
49	chr13:111163978-111164028	BE2_C	brain:	n/a
50	chr13:111160399-111160449	ECC-1	luminal epithelium:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111155022..111158226-chr13:111364288..111368980,5	K562	blood:
2	chr13:111159545..111161201-chr13:111212465..111215084,2	MCF-7	breast:
3	chr13:111159158..111160698-chr13:111176140..111178279,2	MCF-7	breast:
4	chr13:111175845..111178130-chr13:111179058..111181317,2	K562	blood:
5	chr13:111156722..111158386-chr13:111162360..111164730,2	MCF-7	breast:
6	chr13:111107610..111109499-chr13:111162077..111163995,2	K562	blood:
7	chr13:111156722..111158386-chr13:111162360..111164730,2	MCF-7	breast:
8	chr13:111161146..111163590-chr13:111168306..111171101,3	K562	blood:
9	chr13:111160160..111164294-chr13:111174560..111180121,5	MCF-7	breast:
10	chr13:111166149..111167793-chr13:111205225..111207566,2	MCF-7	breast:
11	chr13:111166073..111168474-chr13:111201353..111203309,2	MCF-7	breast:
12	chr13:111173040..111177244-chr13:111365856..111368723,3	MCF-7	breast:
13	chr13:111128717..111130651-chr13:111161918..111164704,2	K562	blood:
14	chr13:111107007..111108826-chr13:111174960..111176925,2	MCF-7	breast:
15	chr13:111161352..111163541-chr13:111207330..111209869,3	MCF-7	breast:
16	chr13:111175089..111177508-chr13:111178295..111180453,3	MCF-7	breast:
17	chr13:111175360..111178796-chr13:111180023..111183032,3	MCF-7	breast:
18	chr13:111158296..111161279-chr13:111366588..111368622,2	K562	blood:
19	chr13:111162545..111165671-chr13:111172658..111175880,3	MCF-7	breast:
20	chr13:111123579..111125936-chr13:111162097..111164181,2	K562	blood:
21	chr13:111164951..111166469-chr13:111366583..111368150,2	K562	blood:
22	chr13:111160382..111162246-chr13:111163776..111165316,2	MCF-7	breast:
23	chr13:111158551..111160525-chr13:111267801..111269585,2	MCF-7	breast:
24	chr13:111160457..111163590-chr13:111168306..111171101,4	K562	blood:
25	chr13:111155981..111156623-chr13:111173427..111174132,2	NB4	blood:
26	chr13:111171438..111174386-chr13:111180872..111182991,2	MCF-7	breast:
27	chr13:111162545..111165671-chr13:111172658..111175880,3	MCF-7	breast:
28	chr13:111160586..111163300-chr13:111242800..111244422,2	MCF-7	breast:
29	chr13:111171406..111173667-chr13:111365704..111368151,2	K562	blood:
30	chr13:111161146..111163590-chr13:111168306..111171101,3	K562	blood:
31	chr13:111158122..111160358-chr13:111366408..111368725,2	MCF-7	breast:
32	chr13:111158284..111162693-chr13:111363847..111368622,9	K562	blood:
33	chr13:111158315..111162369-chr13:111211913..111215301,3	MCF-7	breast:
34	chr13:111158203..111160746-chr13:111166257..111168545,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-4	chr13:111166518-111166932	NONHSAT035153

No data

(count:7 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	COL4A2	hsa-miR-29a-3p	chr13:111164566-111164572
2	COL4A2	hsa-miR-29c-3p	chr13:111164566-111164572
3	COL4A2	hsa-miR-26b-5p	chr13:111165202-111165221
4	COL4A2	hsa-miR-29b-3p	chr13:111164551-111164573
5	COL4A2	hsa-miR-29b-3p	chr13:111164566-111164572
6	COL4A2	hsa-miR-29c-3p	chr13:111164556-111164573
7	COL4A2	hsa-miR-29a-3p	chr13:111164556-111164573

Variant related genes	Relation type
COL4A2	TF binding region
COL4A2-AS1	TF binding region
COL4A2	CpG island
COL4A2-AS1	CpG island
ENSG00000134905	chromatin interactions
ENSG00000213995	chromatin interactions
ENSG00000232814	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000139832	chromatin interactions
ENSG00000134871	chromatin interactions

Extended variants
information (count: 976 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12866034	chr13:111157320-111157321	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537837446	chr13:111157321-111157322	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs377662542	chr13:111157322-111157323	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561678570	chr13:111157332-111157333	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs372979818	chr13:111157354-111157355	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111324418	chr13:111157382-111157383	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs369518877	chr13:111157419-111157420	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs373518231	chr13:111157422-111157423	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs377001284	chr13:111157423-111157424	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190479693	chr13:111157424-111157425	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140170609	chr13:111157426-111157427	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs111454414	chr13:111157435-111157436	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs566593834	chr13:111157437-111157438	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs180742009	chr13:111157447-111157448	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs185996358	chr13:111157448-111157449	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373276764	chr13:111157457-111157458	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555827005	chr13:111157458-111157459	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs71440065	chr13:111157463-111157464	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs370631657	chr13:111157465-111157466	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs71440066	chr13:111157468-111157469	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs375264039	chr13:111157472-111157473	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs535214997	chr13:111157474-111157475	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs386774725	chr13:111157479-111157480	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs113771884	chr13:111157480-111157481	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs71449101	chr13:111157484-111157485	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs190572211	chr13:111157493-111157494	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs183541358	chr13:111157494-111157495	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs575987302	chr13:111157496-111157497	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs553845903	chr13:111157498-111157499	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs111765708	chr13:111157500-111157501	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs192007231	chr13:111157502-111157503	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs552327554	chr13:111157504-111157505	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs559086421	chr13:111157506-111157507	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs568851984	chr13:111157507-111157508	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377143636	chr13:111157508-111157509	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs569894970	chr13:111157511-111157512	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182635883	chr13:111157512-111157513	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs61970344	chr13:111157513-111157514	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs191454257	chr13:111157514-111157515	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs553514255	chr13:111157515-111157516	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs578183744	chr13:111157516-111157517	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs372285400	chr13:111157523-111157524	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs113382081	chr13:111157525-111157526	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs544918033	chr13:111157554-111157555	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs575885681	chr13:111157557-111157558	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs183939813	chr13:111157559-111157560	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs199798854	chr13:111157561-111157562	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs540682610	chr13:111157565-111157566	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs559024244	chr13:111157566-111157567	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs533145179	chr13:111157567-111157568	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
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
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:973 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr13:111109600-111158800	Strong transcription	Ovary	ovary
3	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
6	chr13:111124400-111167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:111125600-111157800	Weak transcription	Small Intestine	intestine
8	chr13:111131000-111162800	Weak transcription	Fetal Brain Male	brain
9	chr13:111131400-111158000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr13:111131800-111159400	Weak transcription	Esophagus	oesophagus
11	chr13:111132200-111158400	Strong transcription	Colon Smooth Muscle	Colon
12	chr13:111132200-111158600	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr13:111139600-111157800	Strong transcription	Placenta	Placenta
14	chr13:111139600-111166400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:111139600-111166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr13:111139800-111158000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:111140200-111167200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:111140800-111166600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:111141000-111159000	Strong transcription	NHLF	lung
20	chr13:111141600-111165600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr13:111143400-111166800	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr13:111143600-111159000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:111145800-111160200	Weak transcription	Psoas Muscle	Psoas
24	chr13:111147000-111158800	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr13:111147000-111159400	Strong transcription	Fetal Lung	lung
26	chr13:111147200-111159000	Strong transcription	Aorta	Aorta
27	chr13:111149600-111159000	Strong transcription	Fetal Stomach	stomach
28	chr13:111149600-111161800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:111149800-111162400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr13:111150000-111159200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr13:111150000-111165000	Weak transcription	Brain Angular Gyrus	brain
32	chr13:111150800-111167200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:111151400-111157800	Weak transcription	Gastric	stomach
34	chr13:111151400-111157800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr13:111151400-111159200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr13:111152600-111159400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:111152600-111168000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr13:111152800-111159000	Strong transcription	HUVEC	blood vessel
39	chr13:111152800-111165800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr13:111153000-111157800	Strong transcription	Fetal Intestine Small	intestine
41	chr13:111153000-111159200	Strong transcription	NHEK	skin
42	chr13:111153000-111168000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:111153200-111158600	Strong transcription	Rectal Smooth Muscle	rectum
44	chr13:111153200-111158800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr13:111153400-111158400	Weak transcription	Liver	Liver
46	chr13:111153400-111158800	Strong transcription	Fetal Muscle Leg	muscle
47	chr13:111153400-111159000	Weak transcription	A549	lung
48	chr13:111153400-111159200	Weak transcription	Brain Hippocampus Middle	brain
49	chr13:111153400-111162000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr13:111153400-111172800	Weak transcription	Brain Substantia Nigra	brain

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