Variant report

Variant	nsv462491
Chromosome Location	chr5:154045280-154066205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:785)
CpG islands
(count:122)
Chromatin interactive
region (count:31)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:154062030-154062673	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:154062553-154062574	K562	blood:	n/a	n/a
3	ARID3A	chr5:154066112-154066429	K562	blood:	n/a	n/a
4	ARID3A	chr5:154061042-154061052	K562	blood:	n/a	n/a
5	ATF1	chr5:154061111-154061496	K562	blood:	n/a	n/a
6	ATF2	chr5:154061974-154062372	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr5:154061929-154062427	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr5:154062026-154062261	K562	blood:	n/a	n/a
9	ATF3	chr5:154062330-154062682	K562	blood:	n/a	n/a
10	ATF3	chr5:154062438-154062687	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr5:154062428-154062672	K562	blood:	n/a	n/a
12	ATF3	chr5:154061981-154062717	A549	lung:	n/a	n/a
13	ATF3	chr5:154062297-154062724	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr5:154062100-154062606	K562	blood:	n/a	chr5:154062541-154062555
15	BACH1	chr5:154061938-154063280	H1-hESC	embryonic stem cell:	n/a	chr5:154062541-154062555
16	BATF	chr5:154062418-154062644	GM12878	blood:	n/a	chr5:154062544-154062555 chr5:154062545-154062555
17	BCL3	chr5:154061944-154062604	A549	lung:	n/a	chr5:154062561-154062574 chr5:154062315-154062328
18	BCL3	chr5:154061908-154062501	A549	lung:	n/a	chr5:154062315-154062328
19	BCLAF1	chr5:154061923-154062767	K562	blood:	n/a	chr5:154062561-154062574 chr5:154062315-154062328
20	BCLAF1	chr5:154061968-154062799	K562	blood:	n/a	chr5:154062561-154062574 chr5:154062315-154062328
21	BHLHE40	chr5:154062010-154062618	A549	lung:	n/a	n/a
22	BHLHE40	chr5:154061960-154063025	K562	blood:	n/a	n/a
23	BHLHE40	chr5:154061961-154062779	HepG2	liver:	n/a	n/a
24	BHLHE40	chr5:154061147-154061199	K562	blood:	n/a	n/a
25	BHLHE40	chr5:154062063-154062923	GM12878	blood:	n/a	n/a
26	BHLHE40	chr5:154050398-154050598	K562	blood:	n/a	n/a
27	BHLHE40	chr5:154057482-154057685	K562	blood:	n/a	n/a
28	BRCA1	chr5:154062556-154062680	HepG2	liver:	n/a	n/a
29	BRCA1	chr5:154061985-154062820	Hela-S3	cervix:	n/a	n/a
30	CBX3	chr5:154061787-154062948	HCT-116	colon:	n/a	n/a
31	CBX3	chr5:154065970-154066687	K562	blood:	n/a	n/a
32	CBX3	chr5:154055675-154056101	K562	blood:	n/a	n/a
33	CBX3	chr5:154066008-154066565	HCT-116	colon:	n/a	n/a
34	CBX3	chr5:154062364-154062705	K562	blood:	n/a	n/a
35	CBX3	chr5:154066009-154066463	K562	blood:	n/a	n/a
36	CBX3	chr5:154061939-154062986	HCT-116	colon:	n/a	n/a
37	CBX3	chr5:154061491-154062814	K562	blood:	n/a	n/a
38	CCNT2	chr5:154061960-154062809	K562	blood:	n/a	chr5:154062126-154062135 chr5:154062210-154062219
39	CEBPB	chr5:154062014-154062231	K562	blood:	n/a	n/a
40	CEBPB	chr5:154062292-154062787	ECC-1	luminal epithelium:	n/a	n/a
41	CEBPB	chr5:154066103-154066406	A549	lung:	n/a	chr5:154066222-154066233
42	CEBPB	chr5:154061986-154062351	MCF-7	breast:	n/a	n/a
43	CEBPB	chr5:154062006-154062306	HepG2	liver:	n/a	n/a
44	CEBPB	chr5:154062033-154062783	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr5:154061975-154062790	A549	lung:	n/a	n/a
46	CEBPB	chr5:154059825-154059909	HepG2	liver:	n/a	n/a
47	CEBPB	chr5:154061878-154063050	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr5:154062001-154062846	IMR90	lung:	n/a	n/a
49	CEBPB	chr5:154066081-154066383	HepG2	liver:	n/a	chr5:154066222-154066233
50	CEBPB	chr5:154057479-154057801	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:154062711-154062761	HCPEpiC	choroid plexus:	n/a
2	chr5:154062711-154062761	RPTEC	kidney:	n/a
3	chr5:154062204-154062254	HEK293	kidney:	embryo
4	chr5:154062204-154062254	PFSK-1	brain:	n/a
5	chr5:154062204-154062254	HAEpiC	amniotic membrane:	n/a
6	chr5:154062711-154062761	Jurkat	blood:	n/a
7	chr5:154062711-154062761	SK-N-MC	brain:	n/a
8	chr5:154062711-154062761	GM19239	blood:	n/a
9	chr5:154062711-154062761	Caco-2	colon:	n/a
10	chr5:154062711-154062761	HNPCEpiC	eye:	n/a
11	chr5:154062204-154062254	HCT-116	colon:	n/a
12	chr5:154062204-154062254	ECC-1	luminal epithelium:	n/a
13	chr5:154062204-154062254	AoSMC	blood vessel:	n/a
14	chr5:154062711-154062761	HRCEpiC	kidney:	n/a
15	chr5:154062711-154062761	ProgFib	skin:	n/a
16	chr5:154062204-154062254	PrEC	prostate:	n/a
17	chr5:154062204-154062254	NHDF-neo	bronchial:	n/a
18	chr5:154062204-154062254	AG04450	lung:	fetal
19	chr5:154062204-154062254	AG10803	skin:	n/a
20	chr5:154062204-154062254	MCF10A-Er-Src	breast:	n/a
21	chr5:154062711-154062761	HPAEpiC	pulmonary alveolar:	n/a
22	chr5:154062204-154062254	PANC-1	pancreas:	n/a
23	chr5:154062204-154062254	HCF	heart:	n/a
24	chr5:154062711-154062761	Hela-S3	cervix:	n/a
25	chr5:154062204-154062254	HCPEpiC	choroid plexus:	n/a
26	chr5:154062711-154062761	HL-60	blood:	n/a
27	chr5:154062711-154062761	SAEC	small airway:	n/a
28	chr5:154062204-154062254	HPAEpiC	pulmonary alveolar:	n/a
29	chr5:154062711-154062761	H1-hESC	embryonic stem cell:	embryo
30	chr5:154062204-154062254	T-47D	breast:	n/a
31	chr5:154062711-154062761	AG09309	skin:	n/a
32	chr5:154062711-154062761	AG09319	gingival:	n/a
33	chr5:154062204-154062254	ProgFib	skin:	n/a
34	chr5:154062711-154062761	IMR90	lung:	fetal
35	chr5:154062711-154062761	BJ	skin:	n/a
36	chr5:154062204-154062254	HRCEpiC	kidney:	n/a
37	chr5:154062711-154062761	MCF-7	breast:	n/a
38	chr5:154062204-154062254	RPTEC	kidney:	n/a
39	chr5:154062204-154062254	HCM	heart:	n/a
40	chr5:154062204-154062254	HRPEpiC	eye:	n/a
41	chr5:154062711-154062761	MCF10A-Er-Src	breast:	n/a
42	chr5:154062711-154062761	PFSK-1	brain:	n/a
43	chr5:154062711-154062761	LNCaP	prostate:	n/a
44	chr5:154062204-154062254	AG09319	gingival:	n/a
45	chr5:154062711-154062761	ECC-1	luminal epithelium:	n/a
46	chr5:154062711-154062761	HUVEC	blood vessel:	n/a
47	chr5:154062204-154062254	U87	brain:	n/a
48	chr5:154062711-154062761	GM06990	blood:	n/a
49	chr5:154062204-154062254	AG04449	skin:	fetal
50	chr5:154062711-154062761	NT2-D1	testis:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154060708..154062713-chr5:154065888..154067569,2	MCF-7	breast:
2	chr5:154057507..154060066-chr5:154134753..154137919,4	K562	blood:
3	chr5:154061441..154064069-chr5:154090774..154094018,3	MCF-7	breast:
4	chr5:154057419..154059228-chr5:154060984..154063481,2	MCF-7	breast:
5	chr5:154050791..154053351-chr5:154133101..154136054,2	MCF-7	breast:
6	chr5:154062816..154065132-chr5:154065984..154069776,3	MCF-7	breast:
7	chr5:154062284..154064360-chr5:154130861..154133550,2	MCF-7	breast:
8	chr5:154061591..154062380-chr5:154191116..154191649,2	MCF-7	breast:
9	chr5:154059219..154066449-chr5:154131053..154139153,28	MCF-7	breast:
10	chr5:154043680..154046617-chr5:154048773..154050400,2	K562	blood:
11	chr5:154059571..154067369-chr5:154132796..154138140,13	K562	blood:
12	chr5:154045529..154048113-chr5:154236569..154238436,2	K562	blood:
13	chr5:154062072..154062697-chr5:154134606..154135158,2	MCF-7	breast:
14	chr5:154060708..154062713-chr5:154065888..154067569,2	MCF-7	breast:
15	chr5:154060599..154064575-chr5:154133211..154138140,11	K562	blood:
16	chr5:154061692..154063624-chr5:154081496..154083811,3	MCF-7	breast:
17	chr5:154032924..154035953-chr5:154060890..154064401,4	K562	blood:
18	chr5:154053688..154055424-chr5:154062643..154064722,2	K562	blood:
19	chr5:154061423..154063859-chr5:154072276..154076586,3	K562	blood:
20	chr5:154053688..154055424-chr5:154062643..154064722,2	K562	blood:
21	chr5:154054874..154057570-chr5:154132622..154134440,2	MCF-7	breast:
22	chr5:154057419..154059228-chr5:154060984..154063481,2	MCF-7	breast:
23	chr5:154062816..154065132-chr5:154065984..154069776,3	MCF-7	breast:
24	chr5:154055817..154057603-chr5:154236901..154239550,2	MCF-7	breast:
25	chr5:154062083..154065077-chr5:154078214..154080372,2	K562	blood:
26	chr5:154061792..154064615-chr5:154236472..154239583,3	MCF-7	breast:
27	chr5:154057469..154060031-chr5:154237033..154238580,2	K562	blood:
28	chr5:154043680..154046617-chr5:154048773..154050400,2	K562	blood:
29	chr5:154062466..154064358-chr5:154453743..154456113,2	K562	blood:
30	chr5:154061087..154064928-chr5:154133720..154137511,10	MCF-7	breast:
31	chr5:154055711..154057750-chr5:154133886..154135674,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LARP1-2	chr5:154062216-154065204	NONHSAT104706

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1303	chr5:154065387-154065408	MIMAT0005891

No data

Variant related genes	Relation type
MIR1303	TF binding region
MIR1303	CpG island
ENSG00000155508	chromatin interactions
ENSG00000155506	chromatin interactions
ENSG00000263478	chromatin interactions
ENSG00000170271	chromatin interactions
ACTB	Mature miRNA region
PSME4	Mature miRNA region
FRS2	Mature miRNA region
PRRC2A	Mature miRNA region
EIF3I	Mature miRNA region
GEMIN5	Mature miRNA region
KIAA0226	Mature miRNA region
CDK6	Mature miRNA region
MED13	Mature miRNA region
USP54	Mature miRNA region
MLLT6	Mature miRNA region
OR51E2	Mature miRNA region
RPS8	Mature miRNA region
HSCB	Mature miRNA region
LEPREL4	Mature miRNA region
L1TD1	Mature miRNA region
RPL7A	Mature miRNA region
PITRM1	Mature miRNA region
FASN	Mature miRNA region
FHOD3	Mature miRNA region
RPS16	Mature miRNA region
AHNAK	Mature miRNA region
SOAT1	Mature miRNA region
NCAPD2	Mature miRNA region
MET	Mature miRNA region
HUWE1	Mature miRNA region
ZNF264	Mature miRNA region
FAT3	Mature miRNA region
DEF8	Mature miRNA region
HYLS1	Mature miRNA region

Extended variants
information (count: 829 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:829 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7444282	chr5:154045280-154045281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370175740	chr5:154045294-154045295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182130917	chr5:154045319-154045320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551545599	chr5:154045400-154045401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78711916	chr5:154045426-154045427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574924787	chr5:154045434-154045435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540955545	chr5:154045468-154045469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368973992	chr5:154045491-154045492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115102621	chr5:154045492-154045493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572525455	chr5:154045529-154045530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs373279795	chr5:154045533-154045534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564645651	chr5:154045563-154045564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530680027	chr5:154045601-154045602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs555213141	chr5:154045602-154045603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543966029	chr5:154045655-154045656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114150504	chr5:154045720-154045721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575825342	chr5:154045724-154045725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529830091	chr5:154045744-154045745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs9686274	chr5:154045745-154045746	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs59852115	chr5:154045761-154045762	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371097919	chr5:154045773-154045774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532560259	chr5:154045807-154045808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4958756	chr5:154045825-154045826	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529347965	chr5:154045916-154045917	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569272619	chr5:154045964-154045965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs57131497	chr5:154045971-154045972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186764792	chr5:154046001-154046002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149600196	chr5:154046021-154046022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144279990	chr5:154046022-154046023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554057149	chr5:154046047-154046048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138979028	chr5:154046167-154046168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546088191	chr5:154046170-154046171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558174722	chr5:154046204-154046205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541083044	chr5:154046224-154046225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142171013	chr5:154046232-154046233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112875742	chr5:154046245-154046246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574591472	chr5:154046258-154046259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192800521	chr5:154046287-154046288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560466536	chr5:154046289-154046290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs78300107	chr5:154046297-154046298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs80086089	chr5:154046308-154046309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532494757	chr5:154046327-154046328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552490171	chr5:154046337-154046338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs184807827	chr5:154046338-154046339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368787053	chr5:154046379-154046380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139763968	chr5:154046380-154046381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568426483	chr5:154046426-154046427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534131722	chr5:154046481-154046482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547535595	chr5:154046489-154046490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570704987	chr5:154046509-154046510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Epilepsy	20502679	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154042800-154061600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:154048200-154048400	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr5:154048200-154048800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:154048600-154062000	Weak transcription	Right Atrium	heart
5	chr5:154048800-154052000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:154050400-154050600	Enhancers	Spleen	Spleen
7	chr5:154053000-154053600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:154053600-154057400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:154054000-154062000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:154055000-154057800	Enhancers	Pancreas	Pancrea
11	chr5:154055000-154059000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:154057000-154058000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr5:154057000-154058200	Enhancers	K562	blood
14	chr5:154057200-154058000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:154057200-154058000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:154057400-154057800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:154057400-154057800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:154057400-154057800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:154057400-154057800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:154057400-154057800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:154057400-154057800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:154057400-154057800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:154057400-154057800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:154057400-154057800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:154057400-154057800	Enhancers	Fetal Heart	heart
26	chr5:154057400-154057800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr5:154057400-154058000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:154057400-154058000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr5:154057400-154058000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr5:154057400-154059200	Enhancers	HepG2	liver
31	chr5:154057600-154057800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr5:154057600-154057800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:154057600-154057800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:154057600-154057800	Enhancers	Fetal Intestine Small	intestine
35	chr5:154057600-154058000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:154057800-154059000	Weak transcription	Pancreas	Pancrea
37	chr5:154057800-154061600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:154057800-154061600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:154057800-154061600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:154057800-154061600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:154057800-154061600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:154057800-154061600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:154057800-154061600	Weak transcription	Fetal Heart	heart
44	chr5:154057800-154061600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:154057800-154061800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:154057800-154061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:154057800-154062000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:154058000-154061600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:154058000-154061600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:154058000-154061600	Weak transcription	Primary monocytes fromperipheralblood	blood

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