Variant report

Variant	nsv1016044
Chromosome Location	chr7:7040500-7150307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:967)
CpG islands
(count:1466)
Chromatin interactive
region (count:34)
LncRNA
region (count:6)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:967 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:7139264-7139512	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:7149678-7149724	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:7082264-7082356	K562	blood:	n/a	n/a
4	ARID3A	chr7:7139212-7139608	K562	blood:	n/a	n/a
5	ARID3A	chr7:7057749-7057838	K562	blood:	n/a	n/a
6	ARID3A	chr7:7142948-7143370	K562	blood:	n/a	n/a
7	ARID3A	chr7:7143853-7144462	K562	blood:	n/a	n/a
8	ARID3A	chr7:7142979-7143350	HepG2	liver:	n/a	n/a
9	ATF1	chr7:7087921-7088178	K562	blood:	n/a	n/a
10	ATF1	chr7:7142975-7143263	K562	blood:	n/a	n/a
11	ATF1	chr7:7144752-7145210	K562	blood:	n/a	n/a
12	ATF1	chr7:7139100-7140550	K562	blood:	n/a	n/a
13	ATF1	chr7:7082150-7082478	K562	blood:	n/a	n/a
14	ATF2	chr7:7139074-7139654	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr7:7139110-7139663	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr7:7139200-7139443	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr7:7139135-7139440	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF3	chr7:7143920-7144344	K562	blood:	n/a	n/a
19	ATF3	chr7:7139062-7139623	K562	blood:	n/a	n/a
20	BACH1	chr7:7138953-7140610	K562	blood:	n/a	n/a
21	BACH1	chr7:7139023-7140417	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr7:7133484-7133598	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL3	chr7:7113441-7113781	GM12878	blood:	n/a	n/a
24	BCL3	chr7:7115198-7115562	GM12878	blood:	n/a	n/a
25	BCL3	chr7:7108235-7108611	GM12878	blood:	n/a	n/a
26	BCL3	chr7:7115189-7115529	GM12878	blood:	n/a	n/a
27	BHLHE40	chr7:7139013-7139020	K562	blood:	n/a	n/a
28	BHLHE40	chr7:7139856-7140450	K562	blood:	n/a	n/a
29	BHLHE40	chr7:7139269-7139613	K562	blood:	n/a	n/a
30	BHLHE40	chr7:7082156-7082340	K562	blood:	n/a	n/a
31	BHLHE40	chr7:7143943-7144257	K562	blood:	n/a	n/a
32	BRCA1	chr7:7142971-7143222	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr7:7139261-7139507	Hela-S3	cervix:	n/a	n/a
34	CBX3	chr7:7139811-7140560	K562	blood:	n/a	n/a
35	CBX3	chr7:7144596-7145396	K562	blood:	n/a	n/a
36	CBX3	chr7:7142969-7143329	K562	blood:	n/a	n/a
37	CBX3	chr7:7081926-7082829	K562	blood:	n/a	n/a
38	CBX3	chr7:7148527-7148977	K562	blood:	n/a	n/a
39	CBX3	chr7:7148380-7148918	K562	blood:	n/a	n/a
40	CBX3	chr7:7143737-7144384	K562	blood:	n/a	chr7:7144228-7144239
41	CBX3	chr7:7138994-7139690	HCT-116	colon:	n/a	n/a
42	CCNT2	chr7:7140005-7140570	K562	blood:	n/a	n/a
43	CCNT2	chr7:7139143-7139799	K562	blood:	n/a	n/a
44	CCNT2	chr7:7143047-7143295	K562	blood:	n/a	n/a
45	CCNT2	chr7:7138214-7138383	K562	blood:	n/a	n/a
46	CCNT2	chr7:7143951-7144299	K562	blood:	n/a	n/a
47	CCNT2	chr7:7082170-7082395	K562	blood:	n/a	n/a
48	CEBPB	chr7:7097282-7097587	HepG2	liver:	n/a	chr7:7097431-7097442
49	CEBPB	chr7:7139241-7139528	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr7:7065336-7065376	A549	lung:	n/a	chr7:7065356-7065367

(count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:7099843-7099893	NT2-D1	testis:	n/a
2	chr7:7111870-7111920	ProgFib	skin:	n/a
3	chr7:7099843-7099893	NT2-D1	testis:	n/a
4	chr7:7111870-7111920	ProgFib	skin:	n/a
5	chr7:7106149-7106199	HRPEpiC	eye:	n/a
6	chr7:7110790-7110840	ECC-1	luminal epithelium:	n/a
7	chr7:7101531-7101581	HepG2	liver:	n/a
8	chr7:7111826-7111876	GM12878	blood:	n/a
9	chr7:7139271-7139321	ECC-1	luminal epithelium:	n/a
10	chr7:7098182-7098232	PFSK-1	brain:	n/a
11	chr7:7111786-7111836	RPTEC	kidney:	n/a
12	chr7:7111786-7111836	BE2_C	brain:	n/a
13	chr7:7109903-7109953	GM12892	blood:	n/a
14	chr7:7110722-7110772	AG04449	skin:	fetal
15	chr7:7111826-7111876	SAEC	small airway:	n/a
16	chr7:7110876-7110926	NT2-D1	testis:	n/a
17	chr7:7106149-7106199	AG10803	skin:	n/a
18	chr7:7105916-7105966	NB4	blood:	n/a
19	chr7:7097910-7097960	A549	lung:	n/a
20	chr7:7111071-7111121	AoSMC	blood vessel:	n/a
21	chr7:7111786-7111836	Caco-2	colon:	n/a
22	chr7:7140086-7140136	AG09319	gingival:	n/a
23	chr7:7140086-7140136	AoSMC	blood vessel:	n/a
24	chr7:7098017-7098067	HCPEpiC	choroid plexus:	n/a
25	chr7:7105809-7105859	NHDF-neo	bronchial:	n/a
26	chr7:7110722-7110772	GM12892	blood:	n/a
27	chr7:7101641-7101691	HCT-116	colon:	n/a
28	chr7:7111870-7111920	HEK293	kidney:	embryo
29	chr7:7097910-7097960	H1-hESC	embryonic stem cell:	embryo
30	chr7:7106149-7106199	AG09309	skin:	n/a
31	chr7:7099843-7099893	HAEpiC	amniotic membrane:	n/a
32	chr7:7106214-7106264	AG04450	lung:	fetal
33	chr7:7109903-7109953	ECC-1	luminal epithelium:	n/a
34	chr7:7109903-7109953	HL-60	blood:	n/a
35	chr7:7106149-7106199	HUVEC	blood vessel:	n/a
36	chr7:7099858-7099908	AG04450	lung:	fetal
37	chr7:7105809-7105859	SKMC	muscle:	n/a
38	chr7:7111826-7111876	U87	brain:	n/a
39	chr7:7106306-7106356	GM06990	blood:	n/a
40	chr7:7110790-7110840	SK-N-SH	brain:	n/a
41	chr7:7098017-7098067	NT2-D1	testis:	n/a
42	chr7:7106149-7106199	HAEpiC	amniotic membrane:	n/a
43	chr7:7111071-7111121	U87	brain:	n/a
44	chr7:7111071-7111121	SKMC	muscle:	n/a
45	chr7:7099843-7099893	AoSMC	blood vessel:	n/a
46	chr7:7106214-7106264	NHBE	bronchial:	n/a
47	chr7:7109903-7109953	ProgFib	skin:	n/a
48	chr7:7111786-7111836	AG04450	lung:	fetal
49	chr7:7111786-7111836	HIPEpiC	eye:	n/a
50	chr7:7101738-7101788	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr7:7142758..7143661-chr7:7580812..7581638,2	MCF-7	breast:
2	chr7:7138294..7142693-chr7:7219176..7223789,9	K562	blood:
3	chr7:7053634..7055657-chr7:7056741..7058413,2	MCF-7	breast:
4	chr7:7134412..7137246-chr7:7225961..7227712,2	K562	blood:
5	chr7:7053634..7055657-chr7:7056741..7058413,2	MCF-7	breast:
6	chr7:7071081..7073048-chr7:7074220..7077008,2	K562	blood:
7	chr7:7139063..7141673-chr7:7144287..7145917,3	K562	blood:
8	chr7:7133633..7139012-chr7:7139035..7144614,7	K562	blood:
9	chr7:7039931..7042582-chr7:7043359..7045821,2	K562	blood:
10	chr7:7138954..7142167-chr7:7147742..7150390,3	K562	blood:
11	chr7:7074008..7077103-chr7:7078870..7082330,3	K562	blood:
12	chr1:176176383..176176965-chr7:7135101..7135756,2	Hela-S3	cervix:
13	chr7:7139222..7141450-chr7:7606351..7608422,2	K562	blood:
14	chr7:7082115..7084689-chr7:7085988..7087819,2	K562	blood:
15	chr7:7075155..7077103-chr7:7078870..7080838,2	K562	blood:
16	chr7:7074211..7076243-chr7:7083711..7086454,2	K562	blood:
17	chr7:7084346..7086372-chr7:7102099..7103966,2	K562	blood:
18	chr7:7074211..7076243-chr7:7083711..7086454,2	K562	blood:
19	chr7:7133060..7138358-chr7:7139035..7145054,9	K562	blood:
20	chr7:7081880..7084410-chr7:7088797..7091542,2	K562	blood:
21	chr2:187538048..187541049-chr7:7133355..7136702,3	MCF-7	breast:
22	chr7:7082115..7084689-chr7:7085988..7087819,2	K562	blood:
23	chr7:7081880..7084410-chr7:7088797..7091542,2	K562	blood:
24	chr7:7039931..7042582-chr7:7043359..7045821,2	K562	blood:
25	chr7:7075155..7077103-chr7:7078870..7080838,2	K562	blood:
26	chr7:7149260..7151579-chr7:7161509..7164124,2	K562	blood:
27	chr7:7138954..7142167-chr7:7147742..7150390,3	K562	blood:
28	chr7:7142761..7143623-chr7:7463315..7464213,2	MCF-7	breast:
29	chr7:7138712..7144572-chr7:7219459..7223789,7	K562	blood:
30	chr7:7143123..7143712-chr7:7389680..7390354,2	MCF-7	breast:
31	chr7:7084346..7086372-chr7:7102099..7103966,2	K562	blood:
32	chr7:7074008..7077103-chr7:7078870..7082330,3	K562	blood:
33	chr7:7139063..7141673-chr7:7144287..7145917,3	K562	blood:
34	chr7:7071081..7073048-chr7:7074220..7077008,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCZ1B-6	chr7:7119855-7120286	NONHSAT119099
2	lnc-CCZ1B-6	chr7:7129663-7129687	NONHSAT119099
3	lnc-CCZ1B-6	chr7:7117926-7118888	NONHSAT119098
4	lnc-CCZ1B-6	chr7:7142758-7143163	NONHSAT119099
5	lnc-CCZ1B-6	chr7:7136332-7136350	NONHSAT119099
6	lnc-CCZ1B-6	chr7:7136382-7136779	NONHSAT119099

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3683	chr7:7106641-7106662	MIMAT0018111

No data

Variant related genes	Relation type
ENSG00000263504	TF binding region
ENSG00000239696	TF binding region
ENSG00000201218	TF binding region
ENSG00000266121	TF binding region
ENSG00000264679	TF binding region
ENSG00000266409	TF binding region
MIR3683	TF binding region
ENSG00000265155	TF binding region
ENSG00000263504	CpG island
ENSG00000239696	CpG island
ENSG00000201218	CpG island
ENSG00000266121	CpG island
ENSG00000264679	CpG island
ENSG00000266409	CpG island
MIR3683	CpG island
ENSG00000265155	CpG island
ENSG00000164654	chromatin interactions
ENSG00000272894	chromatin interactions
ENSG00000106392	chromatin interactions
ENSG00000201218	chromatin interactions
ENSG00000143207	chromatin interactions
ENSG00000236021	chromatin interactions

Extended variants
information (count: 3587 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3587 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4074748	chr7:7040500-7040501	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568742222	chr7:7040501-7040502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs376813999	chr7:7040517-7040518	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs535736607	chr7:7040534-7040535	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs182177586	chr7:7040572-7040573	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs572331133	chr7:7040585-7040586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs539629524	chr7:7040603-7040604	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6463625	chr7:7040611-7040612	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs149998265	chr7:7040635-7040636	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6463626	chr7:7040695-7040696	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs4724906	chr7:7040742-7040743	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184330032	chr7:7040760-7040761	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140365750	chr7:7040810-7040811	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189081810	chr7:7040818-7040819	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74991662	chr7:7040856-7040857	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527517999	chr7:7040857-7040858	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs137955429	chr7:7040869-7040870	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77387773	chr7:7040883-7040884	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111719013	chr7:7040893-7040894	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561137712	chr7:7040894-7040895	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28479648	chr7:7040904-7040905	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6463627	chr7:7040907-7040908	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs111848695	chr7:7040916-7040917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112985913	chr7:7040929-7040930	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549762642	chr7:7040930-7040931	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185430979	chr7:7040949-7040950	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528856822	chr7:7040962-7040963	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372043774	chr7:7040965-7040966	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142143465	chr7:7040990-7040991	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190289992	chr7:7041012-7041013	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs144535935	chr7:7041014-7041015	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs557882292	chr7:7041015-7041016	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs570142272	chr7:7041038-7041039	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs181396134	chr7:7041044-7041045	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs79770595	chr7:7041060-7041061	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs35820613	chr7:7041068-7041069	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs369827375	chr7:7041097-7041098	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs541422406	chr7:7041103-7041104	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs185929605	chr7:7041105-7041106	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs541652266	chr7:7041120-7041121	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs11981736	chr7:7041128-7041129	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564087461	chr7:7041131-7041132	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs530426057	chr7:7041158-7041159	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs531453459	chr7:7041175-7041176	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs147859852	chr7:7041188-7041189	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs148897789	chr7:7041229-7041230	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs6463628	chr7:7041258-7041259	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs192176465	chr7:7041275-7041276	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs34056501	chr7:7041292-7041293	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs566035041	chr7:7041295-7041296	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7032400-7051800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:7035600-7041400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:7039200-7042200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:7039600-7053800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:7040200-7040800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:7040200-7050800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:7040400-7040600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:7040600-7040800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:7040600-7041000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:7040600-7042600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:7040800-7041000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:7040800-7041000	Enhancers	K562	blood
13	chr7:7040800-7042200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:7040800-7042800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:7040800-7043200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:7040800-7043600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:7040800-7043600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:7041000-7041800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:7041000-7043600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:7041000-7045000	Weak transcription	K562	blood
21	chr7:7041200-7042800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:7041200-7043000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:7041600-7043200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:7041800-7043400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:7042200-7042600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr7:7042200-7042600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:7042200-7043200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr7:7042600-7043200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:7043200-7051200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:7043600-7044800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:7044800-7045000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:7045000-7045400	Enhancers	K562	blood
33	chr7:7050000-7051600	Weak transcription	Fetal Intestine Large	intestine
34	chr7:7050000-7053600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:7050800-7051800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr7:7050800-7052200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:7050800-7052600	Strong transcription	Fetal Intestine Small	intestine
38	chr7:7051200-7052400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr7:7051600-7051800	Bivalent/Poised TSS	A549	lung
40	chr7:7051600-7052200	Strong transcription	Fetal Intestine Large	intestine
41	chr7:7051600-7053800	Enhancers	K562	blood
42	chr7:7051800-7052600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr7:7052200-7052600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:7052200-7053800	Weak transcription	Fetal Intestine Large	intestine
45	chr7:7052400-7060600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr7:7052600-7052800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:7052600-7054200	Weak transcription	Fetal Intestine Small	intestine
48	chr7:7052600-7058200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr7:7052800-7055000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:7053200-7053600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links