Variant report

Variant	nsv1002382
Chromosome Location	chr3:134239191-134358001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:923)
CpG islands
(count:611)
Chromatin interactive
region (count:37)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:923 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:134246121-134246150	HepG2	liver:	n/a	n/a
2	BHLHE40	chr3:134253617-134253711	K562	blood:	n/a	n/a
3	BHLHE40	chr3:134323211-134323473	HepG2	liver:	n/a	n/a
4	BRCA1	chr3:134246053-134246110	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr3:134319725-134320011	H1-hESC	embryonic stem cell:	n/a	n/a
6	CBX3	chr3:134346613-134347138	HCT-116	colon:	n/a	n/a
7	CEBPB	chr3:134261990-134262331	IMR90	lung:	n/a	chr3:134262146-134262157
8	CEBPB	chr3:134284697-134284965	IMR90	lung:	n/a	n/a
9	CEBPB	chr3:134262049-134262303	Hela-S3	cervix:	n/a	chr3:134262146-134262157
10	CEBPB	chr3:134282553-134282753	IMR90	lung:	n/a	chr3:134282646-134282657
11	CEBPB	chr3:134284758-134284962	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr3:134262062-134262271	MCF-7	breast:	n/a	chr3:134262146-134262157
13	CEBPB	chr3:134262007-134262313	K562	blood:	n/a	chr3:134262146-134262157
14	CEBPB	chr3:134284736-134284989	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr3:134282541-134282818	H1-hESC	embryonic stem cell:	n/a	chr3:134282646-134282657
16	CEBPB	chr3:134262034-134262274	H1-hESC	embryonic stem cell:	n/a	chr3:134262146-134262157
17	CEBPB	chr3:134355163-134355269	A549	lung:	n/a	n/a
18	CEBPB	chr3:134262006-134262301	HepG2	liver:	n/a	chr3:134262146-134262157
19	CEBPB	chr3:134264686-134265026	HepG2	liver:	n/a	n/a
20	CEBPB	chr3:134264730-134265012	A549	lung:	n/a	n/a
21	CEBPB	chr3:134286162-134286235	IMR90	lung:	n/a	n/a
22	CEBPB	chr3:134284733-134284921	K562	blood:	n/a	n/a
23	CEBPB	chr3:134258051-134258314	HepG2	liver:	n/a	chr3:134258159-134258170
24	CEBPB	chr3:134262028-134262302	A549	lung:	n/a	chr3:134262146-134262157
25	CEBPB	chr3:134258046-134258299	K562	blood:	n/a	chr3:134258159-134258170
26	CEBPB	chr3:134282527-134282748	Hela-S3	cervix:	n/a	chr3:134282646-134282657
27	CEBPB	chr3:134264695-134265011	IMR90	lung:	n/a	n/a
28	CEBPB	chr3:134284697-134284973	HepG2	liver:	n/a	n/a
29	CEBPB	chr3:134355029-134355274	HepG2	liver:	n/a	chr3:134355138-134355149
30	CEBPB	chr3:134282495-134282814	HepG2	liver:	n/a	chr3:134282646-134282657
31	CEBPB	chr3:134282500-134282828	K562	blood:	n/a	chr3:134282646-134282657
32	CHD2	chr3:134319691-134320139	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr3:134319718-134320028	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr3:134319797-134319972	HepG2	liver:	n/a	n/a
35	CHD2	chr3:134246038-134246165	HepG2	liver:	n/a	n/a
36	CTCF	chr3:134319706-134320002	GM12878	blood:	n/a	n/a
37	CTCF	chr3:134319840-134319990	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr3:134319860-134320010	A549	lung:	n/a	n/a
39	CTCF	chr3:134319697-134320042	ECC-1	luminal epithelium:	n/a	n/a
40	CTCF	chr3:134245620-134245770	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr3:134261280-134261430	BE2_C	brain:	n/a	chr3:134261296-134261314
42	CTCF	chr3:134319780-134319930	GM12870	blood:	n/a	n/a
43	CTCF	chr3:134246060-134246210	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr3:134246000-134246150	HMF	breast:	n/a	n/a
45	CTCF	chr3:134319780-134319930	HMEC	breast:	n/a	n/a
46	CTCF	chr3:134319780-134319930	GM12864	blood:	n/a	n/a
47	CTCF	chr3:134261250-134261336	GM12878	blood:	n/a	chr3:134261296-134261314
48	CTCF	chr3:134349381-134349652	Gliobla	brain:	n/a	n/a
49	CTCF	chr3:134246000-134246150	HCFaa	heart:	n/a	n/a
50	CTCF	chr3:134319800-134319950	GM12872	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:134319898-134319948	AG09319	gingival:	n/a
2	chr3:134319898-134319948	AG09319	gingival:	n/a
3	chr3:134321018-134321068	ProgFib	skin:	n/a
4	chr3:134340945-134340995	HEK293	kidney:	embryo
5	chr3:134282543-134282593	NH-A	brain:	n/a
6	chr3:134321018-134321068	NHBE	bronchial:	n/a
7	chr3:134331952-134332002	AG04450	lung:	fetal
8	chr3:134282543-134282593	HL-60	blood:	n/a
9	chr3:134339988-134340038	HCM	heart:	n/a
10	chr3:134321018-134321068	HEK293	kidney:	embryo
11	chr3:134321018-134321068	SK-N-SH	brain:	n/a
12	chr3:134319805-134319855	HAEpiC	amniotic membrane:	n/a
13	chr3:134326341-134326391	HCPEpiC	choroid plexus:	n/a
14	chr3:134331952-134332002	HCPEpiC	choroid plexus:	n/a
15	chr3:134321018-134321068	NT2-D1	testis:	n/a
16	chr3:134340945-134340995	NT2-D1	testis:	n/a
17	chr3:134333711-134333761	PANC-1	pancreas:	n/a
18	chr3:134326341-134326391	NT2-D1	testis:	n/a
19	chr3:134326341-134326391	HNPCEpiC	eye:	n/a
20	chr3:134282543-134282593	HUVEC	blood vessel:	n/a
21	chr3:134333711-134333761	HIPEpiC	eye:	n/a
22	chr3:134340945-134340995	SAEC	small airway:	n/a
23	chr3:134326341-134326391	AG04450	lung:	fetal
24	chr3:134319805-134319855	AG09319	gingival:	n/a
25	chr3:134282543-134282593	GM12891	blood:	n/a
26	chr3:134356086-134356136	LNCaP	prostate:	n/a
27	chr3:134326341-134326391	CMK	blood:	n/a
28	chr3:134356086-134356136	BE2_C	brain:	n/a
29	chr3:134333711-134333761	SK-N-MC	brain:	n/a
30	chr3:134331952-134332002	NB4	blood:	n/a
31	chr3:134356086-134356136	HRE	kidney:	n/a
32	chr3:134333711-134333761	U87	brain:	n/a
33	chr3:134331952-134332002	PANC-1	pancreas:	n/a
34	chr3:134321018-134321068	SK-N-MC	brain:	n/a
35	chr3:134340945-134340995	SK-N-SH_RA	brain:	n/a
36	chr3:134356086-134356136	Caco-2	colon:	n/a
37	chr3:134319805-134319855	MCF-7	breast:	n/a
38	chr3:134326341-134326391	NHBE	bronchial:	n/a
39	chr3:134319898-134319948	RPTEC	kidney:	n/a
40	chr3:134333711-134333761	AG09319	gingival:	n/a
41	chr3:134326341-134326391	H1-hESC	embryonic stem cell:	embryo
42	chr3:134321018-134321068	HUVEC	blood vessel:	n/a
43	chr3:134339988-134340038	GM06990	blood:	n/a
44	chr3:134331952-134332002	HCM	heart:	n/a
45	chr3:134319898-134319948	BJ	skin:	n/a
46	chr3:134340945-134340995	HRPEpiC	eye:	n/a
47	chr3:134356086-134356136	HEK293	kidney:	embryo
48	chr3:134333711-134333761	NT2-D1	testis:	n/a
49	chr3:134356086-134356136	HMEC	breast:	n/a
50	chr3:134333711-134333761	MCF10A-Er-Src	breast:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:134204504..134206182-chr3:134313022..134314750,2	MCF-7	breast:
2	chr3:134270443..134272968-chr3:134275419..134277826,2	MCF-7	breast:
3	chr3:134268434..134270471-chr3:134278376..134280248,2	MCF-7	breast:
4	chr3:134319269..134320640-chr3:134359487..134360406,9	MCF-7	breast:
5	chr3:134314944..134317745-chr3:134318153..134321546,4	K562	blood:
6	chr3:134203528..134205442-chr3:134316408..134318082,2	MCF-7	breast:
7	chr3:134349175..134349761-chr3:134396148..134396764,2	MCF-7	breast:
8	chr3:134270436..134272100-chr3:134275152..134278242,3	MCF-7	breast:
9	chr3:134209724..134212425-chr3:134275808..134277795,2	MCF-7	breast:
10	chr3:134270443..134272968-chr3:134275419..134277826,2	MCF-7	breast:
11	chr3:134246398..134248873-chr3:134254340..134256728,2	MCF-7	breast:
12	chr3:134319632..134320209-chr3:135222435..135223348,2	K562	blood:
13	chr3:134319413..134320198-chr3:134473635..134474163,2	K562	blood:
14	chr3:134317378..134319785-chr3:134321623..134324001,2	K562	blood:
15	chr3:134336092..134338583-chr3:134377176..134379075,2	MCF-7	breast:
16	chr3:134349040..134350145-chr3:134359403..134360432,7	MCF-7	breast:
17	chr3:134319767..134320304-chr3:135613907..135614447,2	MCF-7	breast:
18	chr3:134349069..134350003-chr3:134473721..134474764,6	MCF-7	breast:
19	chr3:134246398..134248873-chr3:134254340..134256728,2	MCF-7	breast:
20	chr3:134317378..134319785-chr3:134321623..134324001,2	K562	blood:
21	chr3:134319563..134320257-chr3:134359457..134360529,6	MCF-7	breast:
22	chr3:134319359..134320307-chr3:134395413..134396701,4	MCF-7	breast:
23	chr3:134230977..134232793-chr3:134238434..134239989,2	MCF-7	breast:
24	chr3:134319639..134320339-chr3:134360808..134361383,2	MCF-7	breast:
25	chr3:134319400..134320351-chr3:135222419..135223319,2	MCF-7	breast:
26	chr3:134353630..134356773-chr3:134359972..134362258,3	MCF-7	breast:
27	chr3:134270436..134272100-chr3:134275152..134278242,3	MCF-7	breast:
28	chr3:134317769..134318676-chr3:134359954..134360736,2	MCF-7	breast:
29	chr3:134319748..134320255-chr3:134473210..134474648,3	MCF-7	breast:
30	chr3:134319670..134320295-chr3:134472599..134473138,2	MCF-7	breast:
31	chr3:134349096..134349842-chr3:134472731..134473497,2	MCF-7	breast:
32	chr3:134257572..134260257-chr3:134262534..134264686,2	MCF-7	breast:
33	chr3:134268434..134270471-chr3:134278376..134280248,2	MCF-7	breast:
34	chr3:134349144..134349861-chr3:134395786..134396363,2	MCF-7	breast:
35	chr3:134264407..134266674-chr3:134268169..134270002,2	MCF-7	breast:
36	chr3:134257572..134260257-chr3:134262534..134264686,2	MCF-7	breast:
37	chr3:134319433..134320274-chr3:134473723..134474504,4	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPHB1-1	chr3:134334026-134334280	NONHSAT092250
2	lnc-EPHB1-1	chr3:134316666-134316826	NONHSAT092250
3	lnc-KY-1	chr3:134294594-134295076	XLOC_003262
4	lnc-KY-3	chr3:134318765-134320752	NONHSAT092252
5	lnc-EPHB1-1	chr3:134334026-134334280	NONHSAT092251
6	lnc-EPHB1-1	chr3:134319659-134319961	NONHSAT092249
7	lnc-EPHB1-1	chr3:134316721-134316826	NONHSAT092251
8	lnc-KY-1	chr3:134299345-134299804	XLOC_003262
9	lnc-EPHB1-1	chr3:134346782-134346946	NONHSAT092250
10	lnc-EPHB1-1	chr3:134316643-134316826	NONHSAT092249

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CEP63	hsa-miR-16-5p	chr3:134280641-134280664

Variant related genes	Relation type
CEP63	TF binding region
KY	TF binding region
EPHB1	TF binding region
CEP63	CpG island
KY	CpG island
EPHB1	CpG island
ENSG00000182923	chromatin interactions
ENSG00000154928	chromatin interactions
ENSG00000129055	chromatin interactions
RAB11A	miRNA target sites
RAB11FIP1	miRNA target sites

Extended variants
information (count: 4100 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:4100 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9990351	chr3:134239191-134239192	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535365774	chr3:134239221-134239222	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150985667	chr3:134239249-134239250	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560914630	chr3:134239273-134239274	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371162879	chr3:134239279-134239280	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192975713	chr3:134239401-134239402	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537637496	chr3:134239462-134239463	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184807990	chr3:134239493-134239494	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576055695	chr3:134239506-134239507	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544700834	chr3:134239515-134239516	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115338586	chr3:134239517-134239518	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114804478	chr3:134239544-134239545	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144907550	chr3:134239557-134239558	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112953534	chr3:134239576-134239577	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558278601	chr3:134239597-134239598	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538769209	chr3:134239601-134239602	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80006098	chr3:134239602-134239603	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549905875	chr3:134239607-134239608	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563644940	chr3:134239661-134239662	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538022492	chr3:134239679-134239680	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567879095	chr3:134239693-134239694	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373523321	chr3:134239727-134239728	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138774880	chr3:134239768-134239769	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574665414	chr3:134239806-134239807	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs566113715	chr3:134239864-134239865	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs141835279	chr3:134239890-134239891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs548945668	chr3:134239940-134239941	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs568722164	chr3:134239989-134239990	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs150307913	chr3:134239997-134239998	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs377650603	chr3:134239998-134239999	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557503501	chr3:134240049-134240050	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs570935543	chr3:134240176-134240177	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs542066434	chr3:134240245-134240246	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs553492193	chr3:134240248-134240249	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs538761016	chr3:134240249-134240250	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs112332217	chr3:134240289-134240290	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs398082481	chr3:134240292-134240293	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs397991139	chr3:134240293-134240294	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs572077343	chr3:134240341-134240342	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs9855013	chr3:134240414-134240415	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs571757915	chr3:134240529-134240530	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs188867147	chr3:134240549-134240550	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs546716019	chr3:134240611-134240612	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375833589	chr3:134240615-134240616	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7627188	chr3:134240619-134240620	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs137904923	chr3:134240630-134240631	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9289477	chr3:134240634-134240635	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs149485428	chr3:134240670-134240671	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532190412	chr3:134240759-134240760	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536203874	chr3:134240770-134240771	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:1760 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134206400-134241200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:134206600-134251600	Weak transcription	Colonic Mucosa	Colon
3	chr3:134207000-134241600	Weak transcription	Psoas Muscle	Psoas
4	chr3:134213800-134246000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:134215800-134242200	Weak transcription	NHEK	skin
6	chr3:134222000-134245800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:134223600-134240800	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:134224800-134241200	Weak transcription	Brain Germinal Matrix	brain
9	chr3:134224800-134245800	Weak transcription	Pancreas	Pancrea
10	chr3:134225000-134255800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:134225200-134241200	Weak transcription	Fetal Kidney	kidney
12	chr3:134225200-134256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:134226400-134241400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:134230200-134241200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:134230400-134240800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:134230800-134242000	Weak transcription	Left Ventricle	heart
17	chr3:134230800-134251800	Weak transcription	Aorta	Aorta
18	chr3:134230800-134256000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:134231200-134240800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:134231200-134240800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:134231200-134241400	Weak transcription	Ovary	ovary
22	chr3:134231200-134242200	Weak transcription	Thymus	Thymus
23	chr3:134231200-134255800	Weak transcription	Placenta	Placenta
24	chr3:134231400-134240800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:134231600-134242200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:134232600-134246000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:134232800-134241400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:134234600-134241000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:134234600-134241000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:134235400-134241400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:134236200-134256400	Weak transcription	A549	lung
32	chr3:134236200-134267000	Weak transcription	HSMM	muscle
33	chr3:134236800-134241400	Weak transcription	Adipose Nuclei	Adipose
34	chr3:134237000-134256000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:134237000-134256200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:134237200-134246800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:134237400-134240000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:134237400-134240200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:134238000-134242400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr3:134238400-134239200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:134238400-134242200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr3:134238400-134245200	Weak transcription	Fetal Thymus	thymus
43	chr3:134238600-134239200	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr3:134238600-134239200	ZNF genes & repeats	Fetal Lung	lung
45	chr3:134238600-134239800	ZNF genes & repeats	Dnd41	blood
46	chr3:134238600-134240600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:134238800-134239600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
48	chr3:134239000-134239600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr3:134239000-134239800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr3:134239000-134241600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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