Variant report

Variant	nsv879014
Chromosome Location	chr4:54451246-54461548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:388)
CpG islands
(count:550)
Chromatin interactive
region (count:13)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:54458230-54458502	K562	blood:	n/a	n/a
2	ARID3A	chr4:54459324-54459606	K562	blood:	n/a	n/a
3	ARID3A	chr4:54453296-54453723	HepG2	liver:	n/a	n/a
4	ATF1	chr4:54457557-54457989	K562	blood:	n/a	n/a
5	ATF2	chr4:54457463-54457919	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr4:54459190-54459606	K562	blood:	n/a	n/a
7	BACH1	chr4:54459356-54459361	K562	blood:	n/a	n/a
8	BACH1	chr4:54459164-54459492	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr4:54458985-54459606	K562	blood:	n/a	n/a
10	BHLHE40	chr4:54452335-54452634	K562	blood:	n/a	n/a
11	BHLHE40	chr4:54457269-54458103	K562	blood:	n/a	n/a
12	BHLHE40	chr4:54457771-54458081	GM12878	blood:	n/a	n/a
13	BRCA1	chr4:54457654-54457656	GM12878	blood:	n/a	n/a
14	CCNT2	chr4:54457516-54457982	K562	blood:	n/a	n/a
15	CCNT2	chr4:54458794-54459499	K562	blood:	n/a	chr4:54459407-54459416
16	CEBPB	chr4:54457706-54458127	ECC-1	luminal epithelium:	n/a	n/a
17	CEBPB	chr4:54457269-54457443	HepG2	liver:	n/a	chr4:54457371-54457380 chr4:54457370-54457381 chr4:54457369-54457380
18	CEBPB	chr4:54457291-54457437	H1-hESC	embryonic stem cell:	n/a	chr4:54457371-54457380 chr4:54457370-54457381 chr4:54457369-54457380
19	CEBPB	chr4:54458382-54458619	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr4:54457191-54457545	K562	blood:	n/a	chr4:54457371-54457380 chr4:54457370-54457381 chr4:54457369-54457380
21	CEBPB	chr4:54458401-54458574	HepG2	liver:	n/a	n/a
22	CEBPB	chr4:54457276-54457417	A549	lung:	n/a	chr4:54457371-54457380 chr4:54457370-54457381 chr4:54457369-54457380
23	CEBPB	chr4:54452083-54452686	IMR90	lung:	n/a	chr4:54452500-54452511 chr4:54452176-54452189 chr4:54452500-54452511
24	CEBPB	chr4:54458922-54459520	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr4:54459112-54459615	K562	blood:	n/a	n/a
26	CHD2	chr4:54458295-54458321	K562	blood:	n/a	n/a
27	CHD2	chr4:54458835-54459745	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr4:54457580-54457915	ECC-1	luminal epithelium:	n/a	chr4:54457726-54457739
29	CREB1	chr4:54457403-54457999	H1-hESC	embryonic stem cell:	n/a	chr4:54457726-54457739
30	CREB1	chr4:54457557-54458009	ECC-1	luminal epithelium:	n/a	chr4:54457726-54457739
31	CREB1	chr4:54457486-54457936	H1-hESC	embryonic stem cell:	n/a	chr4:54457726-54457739
32	CTCF	chr4:54459105-54459293	K562	blood:	n/a	n/a
33	CTCF	chr4:54457700-54457850	HEEpiC	esophagus:	n/a	chr4:54457829-54457845
34	CTCF	chr4:54457820-54457970	SAEC	small airway:	n/a	chr4:54457829-54457845
35	CTCF	chr4:54457742-54457941	Pancreas_OC	pancreas:	n/a	chr4:54457829-54457845
36	CTCF	chr4:54457720-54457870	NHEK	skin:	n/a	chr4:54457829-54457845
37	CTCF	chr4:54457764-54457938	LNCaP	prostate:	n/a	chr4:54457829-54457845
38	CTCF	chr4:54458940-54459090	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr4:54457760-54457910	Caco-2	colon:	n/a	chr4:54457829-54457845
40	CTCF	chr4:54457760-54457910	HMEC	breast:	n/a	chr4:54457829-54457845
41	CTCF	chr4:54457749-54457951	NHEK	skin:	n/a	chr4:54457829-54457845
42	CTCF	chr4:54457740-54457890	MCF-7	breast:	n/a	chr4:54457829-54457845
43	CTCF	chr4:54457720-54457870	MCF-7	breast:	n/a	chr4:54457829-54457845
44	CTCF	chr4:54457780-54457930	NHEK	skin:	n/a	chr4:54457829-54457845
45	CTCF	chr4:54457750-54457939	MCF-7	breast:	n/a	chr4:54457829-54457845
46	CTCF	chr4:54457764-54457894	MCF-7	breast:	n/a	chr4:54457829-54457845
47	CTCF	chr4:54457760-54457910	SAEC	small airway:	n/a	chr4:54457829-54457845
48	CTCF	chr4:54457700-54457850	HMEC	breast:	n/a	chr4:54457829-54457845
49	CTCF	chr4:54457625-54458024	MCF-7	breast:	n/a	chr4:54457829-54457845
50	CTCF	chr4:54457765-54457910	MCF-7	breast:	n/a	chr4:54457829-54457845

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:54457645-54457695	RPTEC	kidney:	n/a
2	chr4:54457645-54457695	RPTEC	kidney:	n/a
3	chr4:54461431-54461481	PrEC	prostate:	n/a
4	chr4:54457746-54457796	CMK	blood:	n/a
5	chr4:54457928-54457978	HRCEpiC	kidney:	n/a
6	chr4:54458109-54458159	HNPCEpiC	eye:	n/a
7	chr4:54457746-54457796	MCF-7	breast:	n/a
8	chr4:54457746-54457796	HMEC	breast:	n/a
9	chr4:54457928-54457978	SK-N-SH_RA	brain:	n/a
10	chr4:54457928-54457978	HPAEpiC	pulmonary alveolar:	n/a
11	chr4:54457842-54457892	HRE	kidney:	n/a
12	chr4:54452606-54452656	ovcar-3	ovarian:	n/a
13	chr4:54457842-54457892	SK-N-SH	brain:	n/a
14	chr4:54457746-54457796	HAEpiC	amniotic membrane:	n/a
15	chr4:54452606-54452656	HRCEpiC	kidney:	n/a
16	chr4:54457746-54457796	HRCEpiC	kidney:	n/a
17	chr4:54457928-54457978	Hela-S3	cervix:	n/a
18	chr4:54457645-54457695	HIPEpiC	eye:	n/a
19	chr4:54457928-54457978	HEEpiC	esophagus:	n/a
20	chr4:54452606-54452656	HEEpiC	esophagus:	n/a
21	chr4:54461431-54461481	Hepatocyte	liver:	n/a
22	chr4:54461431-54461481	AG10803	skin:	n/a
23	chr4:54457842-54457892	H1-hESC	embryonic stem cell:	embryo
24	chr4:54452606-54452656	HMEC	breast:	n/a
25	chr4:54458246-54458296	HUVEC	blood vessel:	n/a
26	chr4:54458109-54458159	SK-N-SH_RA	brain:	n/a
27	chr4:54452606-54452656	PFSK-1	brain:	n/a
28	chr4:54457746-54457796	T-47D	breast:	n/a
29	chr4:54457842-54457892	HepG2	liver:	n/a
30	chr4:54458109-54458159	HCPEpiC	choroid plexus:	n/a
31	chr4:54457928-54457978	RPTEC	kidney:	n/a
32	chr4:54452606-54452656	SK-N-SH	brain:	n/a
33	chr4:54458109-54458159	IMR90	lung:	fetal
34	chr4:54457928-54457978	AoSMC	blood vessel:	n/a
35	chr4:54452606-54452656	BJ	skin:	n/a
36	chr4:54458246-54458296	NT2-D1	testis:	n/a
37	chr4:54457842-54457892	GM12891	blood:	n/a
38	chr4:54452606-54452656	NH-A	brain:	n/a
39	chr4:54452606-54452656	GM12892	blood:	n/a
40	chr4:54457842-54457892	Caco-2	colon:	n/a
41	chr4:54452606-54452656	AG04449	skin:	fetal
42	chr4:54457928-54457978	U87	brain:	n/a
43	chr4:54457842-54457892	ovcar-3	ovarian:	n/a
44	chr4:54457645-54457695	HMEC	breast:	n/a
45	chr4:54452606-54452656	U87	brain:	n/a
46	chr4:54457746-54457796	NHDF-neo	bronchial:	n/a
47	chr4:54458109-54458159	T-47D	breast:	n/a
48	chr4:54457737-54457787	PFSK-1	brain:	n/a
49	chr4:54458246-54458296	Caco-2	colon:	n/a
50	chr4:54452606-54452656	H1-hESC	embryonic stem cell:	embryo

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:54450850..54455147-chr4:54455906..54459442,4	K562	blood:
2	chr4:54460125..54463943-chr4:54465847..54469777,4	MCF-7	breast:
3	chr4:54450499..54453685-chr4:54466144..54467975,3	MCF-7	breast:
4	chr4:54449977..54452019-chr4:54455062..54457400,2	MCF-7	breast:
5	chr4:54441539..54444052-chr4:54456319..54458612,3	MCF-7	breast:
6	chr4:54449977..54452019-chr4:54455062..54457400,2	MCF-7	breast:
7	chr4:54452448..54454872-chr4:54483525..54486127,2	K562	blood:
8	chr4:54449770..54452528-chr4:54455369..54457530,2	MCF-7	breast:
9	chr4:54451873..54454267-chr4:54454529..54458106,3	K562	blood:
10	chr4:54439397..54441582-chr4:54451989..54453798,2	K562	blood:
11	chr4:54449770..54452528-chr4:54455369..54457530,2	MCF-7	breast:
12	chr4:53577014..53579334-chr4:54455969..54458582,2	K562	blood:
13	chr4:54441243..54444280-chr4:54454649..54458129,3	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GSX2-3	chr4:54459123-54459239	ENSG00000248494.1
2	lnc-SCFD2-5	chr4:54457555-54457682	NONHSAT096401
3	lnc-GSX2-3	chr4:54459152-54459239	ENSG00000248494.1
4	lnc-GSX2-3	chr4:54460012-54460270	ENSG00000248494.1
5	lnc-GSX2-3	chr4:54459123-54459239	NONHSAT096402

No data

Variant related genes	Relation type
LNX1-AS2	TF binding region
LNX1	TF binding region
LNX1-AS2	CpG island
LNX1	CpG island
ENSG00000264585	chromatin interactions
ENSG00000226950	chromatin interactions
ENSG00000173966	chromatin interactions
ENSG00000072201	chromatin interactions
ENSG00000248494	chromatin interactions

Extended variants
information (count: 388 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs932038	chr4:54451246-54451247	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546418999	chr4:54451280-54451281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs560391562	chr4:54451338-54451339	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs150646552	chr4:54451393-54451394	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552452641	chr4:54451437-54451438	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs568709427	chr4:54451444-54451445	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537868541	chr4:54451463-54451464	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs60601837	chr4:54451478-54451479	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs139105982	chr4:54451484-54451485	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs73147488	chr4:54451512-54451513	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554448679	chr4:54451538-54451539	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs577378947	chr4:54451560-54451561	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539698757	chr4:54451617-54451618	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181811886	chr4:54451630-54451631	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576325913	chr4:54451666-54451667	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543560671	chr4:54451681-54451682	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs114103555	chr4:54451767-54451768	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs117908527	chr4:54451831-54451832	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs540027290	chr4:54452033-54452034	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs529222263	chr4:54452036-54452037	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs562136587	chr4:54452100-54452101	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554729291	chr4:54452107-54452108	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs187077918	chr4:54452109-54452110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs142810080	chr4:54452165-54452166	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529528255	chr4:54452206-54452207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs552159092	chr4:54452214-54452215	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs375290421	chr4:54452216-54452217	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547753539	chr4:54452223-54452224	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs372073514	chr4:54452306-54452307	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs114508237	chr4:54452359-54452360	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs147391724	chr4:54452364-54452365	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs548234210	chr4:54452413-54452414	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs568153810	chr4:54452453-54452454	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs191512114	chr4:54452454-54452455	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs527342524	chr4:54452474-54452475	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs1347406	chr4:54452487-54452488	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
37	rs139657717	chr4:54452509-54452510	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs569668597	chr4:54452553-54452554	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs540041794	chr4:54452555-54452556	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs556565949	chr4:54452615-54452616	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs75046089	chr4:54452651-54452652	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs35419549	chr4:54452661-54452662	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs10517304	chr4:54452715-54452716	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs555478939	chr4:54452720-54452721	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs371190686	chr4:54452751-54452752	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs567331793	chr4:54452763-54452764	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs75418012	chr4:54452818-54452819	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs182560875	chr4:54452855-54452856	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs77190821	chr4:54452860-54452861	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs572942018	chr4:54452861-54452862	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54425200-54457400	Weak transcription	Right Atrium	heart
2	chr4:54431200-54456600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:54438600-54452800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:54439000-54454800	Weak transcription	Left Ventricle	heart
5	chr4:54439200-54454600	Weak transcription	Aorta	Aorta
6	chr4:54443400-54451800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:54443600-54451800	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:54443600-54452400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:54443600-54457000	Weak transcription	Colonic Mucosa	Colon
10	chr4:54443800-54451600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:54443800-54451800	Weak transcription	Fetal Intestine Small	intestine
12	chr4:54443800-54451800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:54443800-54452600	Weak transcription	Fetal Intestine Large	intestine
14	chr4:54443800-54453600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:54444000-54454600	Weak transcription	Placenta	Placenta
16	chr4:54446800-54451600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:54446800-54451800	Weak transcription	Osteobl	bone
18	chr4:54447200-54452400	Weak transcription	Fetal Brain Male	brain
19	chr4:54447400-54454800	Weak transcription	Gastric	stomach
20	chr4:54448600-54451800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:54448600-54451800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:54448600-54454600	Weak transcription	Esophagus	oesophagus
23	chr4:54448600-54457400	Weak transcription	HMEC	breast
24	chr4:54448800-54451600	Weak transcription	NHEK	skin
25	chr4:54448800-54451800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:54448800-54453200	Weak transcription	Liver	Liver
27	chr4:54448800-54453600	Weak transcription	Fetal Kidney	kidney
28	chr4:54449200-54451600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:54449200-54451600	Weak transcription	Fetal Lung	lung
30	chr4:54449200-54453800	Weak transcription	Pancreas	Pancrea
31	chr4:54449800-54453800	Enhancers	NHDF-Ad	bronchial
32	chr4:54450000-54451800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:54450000-54454600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:54450200-54451400	Weak transcription	Fetal Heart	heart
35	chr4:54450400-54451800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:54450800-54457000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr4:54451000-54452600	Weak transcription	HepG2	liver
38	chr4:54451000-54453400	Enhancers	NHLF	lung
39	chr4:54451200-54452600	Weak transcription	Small Intestine	intestine
40	chr4:54451400-54453600	Enhancers	Fetal Heart	heart
41	chr4:54451600-54452600	Enhancers	Fetal Lung	lung
42	chr4:54451600-54452800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:54451600-54452800	Enhancers	NHEK	skin
44	chr4:54451600-54453000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:54451600-54453000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:54451800-54452000	Enhancers	Fetal Intestine Small	intestine
47	chr4:54451800-54452000	Enhancers	Fetal Muscle Leg	muscle
48	chr4:54451800-54452200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:54451800-54452800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:54451800-54452800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links