Variant report

Variant	nsv1032443
Chromosome Location	chr7:152988419-153450150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1799)
CpG islands
(count:1283)
Chromatin interactive
region (count:298)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1799 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:153109739-153110062	K562	blood:	n/a	n/a
2	ARID3A	chr7:153108540-153108589	K562	blood:	n/a	n/a
3	ARID3A	chr7:153130385-153130583	K562	blood:	n/a	n/a
4	ARID3A	chr7:153043449-153043453	K562	blood:	n/a	n/a
5	ARID3A	chr7:153143735-153143934	K562	blood:	n/a	n/a
6	ARID3A	chr7:153109096-153109296	K562	blood:	n/a	n/a
7	ARID3A	chr7:153078807-153079063	HepG2	liver:	n/a	n/a
8	ARID3A	chr7:153110322-153112174	K562	blood:	n/a	n/a
9	ARID3A	chr7:153104655-153106258	K562	blood:	n/a	n/a
10	ARID3A	chr7:153103307-153103458	K562	blood:	n/a	n/a
11	ARID3A	chr7:153103753-153104234	K562	blood:	n/a	n/a
12	ARID3A	chr7:153082623-153082873	K562	blood:	n/a	n/a
13	ATF1	chr7:153112718-153113068	K562	blood:	n/a	n/a
14	ATF1	chr7:153034781-153034828	K562	blood:	n/a	n/a
15	ATF1	chr7:153110923-153111307	K562	blood:	n/a	n/a
16	ATF1	chr7:153308996-153309145	K562	blood:	n/a	n/a
17	ATF1	chr7:153130251-153130554	K562	blood:	n/a	n/a
18	ATF1	chr7:153074161-153074244	K562	blood:	n/a	n/a
19	ATF1	chr7:153104526-153104952	K562	blood:	n/a	n/a
20	ATF1	chr7:153154941-153155221	K562	blood:	n/a	n/a
21	ATF1	chr7:153119688-153120319	K562	blood:	n/a	n/a
22	ATF3	chr7:153119989-153120275	K562	blood:	n/a	n/a
23	BACH1	chr7:153100843-153101026	K562	blood:	n/a	n/a
24	BACH1	chr7:153133123-153133319	K562	blood:	n/a	n/a
25	BACH1	chr7:153109751-153110110	K562	blood:	n/a	n/a
26	BACH1	chr7:153055076-153055079	K562	blood:	n/a	n/a
27	BACH1	chr7:153113244-153113564	K562	blood:	n/a	n/a
28	BACH1	chr7:152998916-152998999	K562	blood:	n/a	n/a
29	BACH1	chr7:153111122-153111267	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr7:153200611-153200865	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr7:153244736-153244872	K562	blood:	n/a	n/a
32	BACH1	chr7:153031945-153032120	K562	blood:	n/a	n/a
33	BACH1	chr7:153203925-153204059	K562	blood:	n/a	n/a
34	BACH1	chr7:153097892-153097911	K562	blood:	n/a	n/a
35	BACH1	chr7:153108498-153108636	K562	blood:	n/a	n/a
36	BACH1	chr7:153110739-153112141	K562	blood:	n/a	n/a
37	BACH1	chr7:153099558-153099965	K562	blood:	n/a	n/a
38	BATF	chr7:153337727-153337979	GM12878	blood:	n/a	n/a
39	BATF	chr7:153337705-153337995	GM12878	blood:	n/a	n/a
40	BCL3	chr7:153101811-153102227	K562	blood:	n/a	n/a
41	BCL3	chr7:153105524-153106503	K562	blood:	n/a	n/a
42	BCL3	chr7:153103242-153103537	K562	blood:	n/a	n/a
43	BCL3	chr7:153104489-153105071	K562	blood:	n/a	n/a
44	BCL3	chr7:153109499-153110250	K562	blood:	n/a	n/a
45	BCLAF1	chr7:153107687-153111130	K562	blood:	n/a	n/a
46	BCLAF1	chr7:153104261-153105189	K562	blood:	n/a	n/a
47	BCLAF1	chr7:153105443-153107677	K562	blood:	n/a	n/a
48	BCLAF1	chr7:153110402-153111174	K562	blood:	n/a	n/a
49	BHLHE40	chr7:153155108-153155139	K562	blood:	n/a	n/a
50	BHLHE40	chr7:153109125-153109401	K562	blood:	n/a	n/a

(count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:153442389-153442439	H1-hESC	embryonic stem cell:	embryo
2	chr7:153443930-153443980	HRE	kidney:	n/a
3	chr7:153442389-153442439	H1-hESC	embryonic stem cell:	embryo
4	chr7:153443930-153443980	HRE	kidney:	n/a
5	chr7:153110762-153110812	HCF	heart:	n/a
6	chr7:153446726-153446776	ProgFib	skin:	n/a
7	chr7:153110492-153110542	HRPEpiC	eye:	n/a
8	chr7:153442389-153442439	NB4	blood:	n/a
9	chr7:153446106-153446156	HRCEpiC	kidney:	n/a
10	chr7:153445197-153445247	NHBE	bronchial:	n/a
11	chr7:153108684-153108734	BJ	skin:	n/a
12	chr7:153446106-153446156	IMR90	lung:	fetal
13	chr7:153449200-153449250	SK-N-MC	brain:	n/a
14	chr7:153449200-153449250	HPAEpiC	pulmonary alveolar:	n/a
15	chr7:153012895-153012945	GM12892	blood:	n/a
16	chr7:153287752-153287802	Jurkat	blood:	n/a
17	chr7:153287752-153287802	SK-N-MC	brain:	n/a
18	chr7:153287529-153287579	HRE	kidney:	n/a
19	chr7:153109375-153109425	ovcar-3	ovarian:	n/a
20	chr7:153012895-153012945	PrEC	prostate:	n/a
21	chr7:153287752-153287802	H1-hESC	embryonic stem cell:	embryo
22	chr7:153449200-153449250	ovcar-3	ovarian:	n/a
23	chr7:153108642-153108692	H1-hESC	embryonic stem cell:	embryo
24	chr7:153287529-153287579	ECC-1	luminal epithelium:	n/a
25	chr7:153445197-153445247	ovcar-3	ovarian:	n/a
26	chr7:153445197-153445247	PANC-1	pancreas:	n/a
27	chr7:153287752-153287802	AG04449	skin:	fetal
28	chr7:153445197-153445247	HNPCEpiC	eye:	n/a
29	chr7:153445197-153445247	Hela-S3	cervix:	n/a
30	chr7:153449200-153449250	GM19239	blood:	n/a
31	chr7:153446106-153446156	CMK	blood:	n/a
32	chr7:153287752-153287802	MCF10A-Er-Src	breast:	n/a
33	chr7:153109375-153109425	AG04450	lung:	fetal
34	chr7:153078797-153078847	LNCaP	prostate:	n/a
35	chr7:153109538-153109588	HAEpiC	amniotic membrane:	n/a
36	chr7:153110762-153110812	T-47D	breast:	n/a
37	chr7:153078797-153078847	GM12892	blood:	n/a
38	chr7:153109538-153109588	HIPEpiC	eye:	n/a
39	chr7:153287591-153287641	HUVEC	blood vessel:	n/a
40	chr7:153446106-153446156	HRPEpiC	eye:	n/a
41	chr7:153108726-153108776	IMR90	lung:	fetal
42	chr7:153078797-153078847	AoSMC	blood vessel:	n/a
43	chr7:153446106-153446156	Caco-2	colon:	n/a
44	chr7:153110762-153110812	NB4	blood:	n/a
45	chr7:153109375-153109425	H1-hESC	embryonic stem cell:	embryo
46	chr7:153108642-153108692	AoSMC	blood vessel:	n/a
47	chr7:153108726-153108776	HAEpiC	amniotic membrane:	n/a
48	chr7:153110994-153111044	IMR90	lung:	fetal
49	chr7:153109538-153109588	SKMC	muscle:	n/a
50	chr7:153108726-153108776	BE2_C	brain:	n/a

(count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr7:153018926..153020911-chr7:153105135..153106975,2	K562	blood:
2	chr7:64297147..64300763-chr7:153106859..153112373,8	K562	blood:
3	chr7:152988625..152991357-chr7:152991699..152994547,3	K562	blood:
4	chr7:153102721..153106606-chr7:153212905..153219163,7	K562	blood:
5	chr7:153100664..153102886-chr7:154843246..154845747,2	K562	blood:
6	chr7:153101066..153103741-chr7:153151385..153153304,3	K562	blood:
7	chr7:153032299..153036856-chr7:153103737..153108075,4	K562	blood:
8	chr7:153336841..153338851-chr7:153344119..153346784,2	K562	blood:
9	chr7:153104012..153105714-chr7:153166504..153168791,2	K562	blood:
10	chr7:153353780..153355410-chr7:153357076..153358792,2	K562	blood:
11	chr7:153130431..153132961-chr7:153133375..153135450,3	K562	blood:
12	chr7:153016352..153018288-chr7:153019848..153021405,2	K562	blood:
13	chr7:153033553..153036164-chr7:153103737..153105487,2	K562	blood:
14	chr7:153095496..153100083-chr7:153227240..153231404,4	K562	blood:
15	chr7:153091082..153093692-chr7:153327387..153329268,2	K562	blood:
16	chr7:153313143..153316198-chr7:153317253..153319908,4	K562	blood:
17	chr7:153207860..153209582-chr7:153211240..153212900,2	K562	blood:
18	chr7:153353677..153355280-chr7:153357292..153359740,2	K562	blood:
19	chr7:153094563..153096914-chr7:153326913..153328518,2	K562	blood:
20	chr20:11799120..11799834-chr7:153060716..153061457,2	MCF-7	breast:
21	chr7:153205000..153206676-chr7:153209443..153211203,2	K562	blood:
22	chr7:152975810..152978367-chr7:153090771..153092970,2	K562	blood:
23	chr7:153104305..153105912-chr7:153250061..153252295,2	K562	blood:
24	chr7:153133971..153136584-chr7:153144727..153146368,2	K562	blood:
25	chr7:152877954..152879856-chr7:153096882..153099868,2	K562	blood:
26	chr7:153054753..153057546-chr7:153057782..153059510,2	K562	blood:
27	chr7:153042083..153045864-chr7:153048937..153051792,3	K562	blood:
28	chr7:153104280..153106430-chr7:153200479..153202606,2	K562	blood:
29	chr7:153102450..153104761-chr7:153532927..153535675,2	K562	blood:
30	chr7:153032299..153036856-chr7:153103737..153108075,4	K562	blood:
31	chr7:153096512..153100597-chr7:153175371..153177855,3	K562	blood:
32	chr7:153366174..153368925-chr7:153372775..153374765,2	K562	blood:
33	chr7:153361300..153363555-chr7:153366208..153367723,2	K562	blood:
34	chr7:153133971..153136584-chr7:153144727..153146368,2	K562	blood:
35	chr7:153102849..153104905-chr7:153187331..153188983,2	K562	blood:
36	chr7:153080633..153085077-chr7:153085115..153088222,5	K562	blood:
37	chr7:153103413..153106073-chr7:153238288..153241221,2	K562	blood:
38	chr7:153064116..153066468-chr7:153081031..153083301,2	K562	blood:
39	chr7:153016352..153018288-chr7:153019848..153021405,2	K562	blood:
40	chr16:3764870..3767441-chr7:153103899..153106238,2	K562	blood:
41	chr7:153033881..153035423-chr7:153075669..153078546,2	K562	blood:
42	chr7:153346075..153348909-chr7:153353457..153355073,2	K562	blood:
43	chr7:153109482..153112162-chr7:153199634..153202345,2	K562	blood:
44	chr7:153349889..153351413-chr7:153353236..153355275,2	K562	blood:
45	chr7:153045951..153048342-chr7:153050457..153052343,2	K562	blood:
46	chr7:153100820..153103410-chr7:153246584..153249087,2	K562	blood:
47	chr7:153104593..153107356-chr7:153151532..153153946,4	K562	blood:
48	chr7:153110155..153112303-chr7:153247620..153250543,3	K562	blood:
49	chr7:152981185..152983494-chr7:153101027..153103155,2	K562	blood:
50	chr7:153065822..153067507-chr7:153075563..153078240,2	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XRCC2-1	chr7:153109178-153109319	ENSG00000234722
2	lnc-XRCC2-1	chr7:153110698-153111021	ENSG00000234722
3	lnc-XRCC2-1	chr7:153097005-153097631	ENSG00000234722.3
4	lnc-XRCC2-2	chr7:153125396-153125424	XLOC_006657
5	lnc-XRCC2-1	chr7:153097005-153097631	ENSG00000234722
6	lnc-XRCC2-1	chr7:153102577-153102683	ENSG00000234722.3
7	lnc-XRCC2-1	chr7:153102577-153102683	ENSG00000234722
8	lnc-XRCC2-2	chr7:153120803-153121101	XLOC_006657
9	lnc-DPP6-7	chr7:153146514-153146960	NONHSAT124301
10	lnc-DPP6-3	chr7:153092498-153092703	XLOC_006297
11	lnc-XRCC2-1	chr7:153104041-153104169	ENSG00000234722.3
12	lnc-DPP6-2	chr7:153119376-153119626	XLOC_006298
13	lnc-XRCC2-1	chr7:153104041-153104171	ENSG00000234722
14	lnc-XRCC2-1	chr7:153109176-153109319	ENSG00000234722.3
15	lnc-DPP6-2	chr7:153120526-153120601	XLOC_006298
16	lnc-XRCC2-3	chr7:153221094-153221300	XLOC_006658
17	lnc-XRCC2-4	chr7:153413334-153413531	XLOC_006659
18	lnc-XRCC2-4	chr7:153406738-153407404	XLOC_006659
19	lnc-DPP6-3	chr7:153086676-153086815	XLOC_006297
20	lnc-XRCC2-1	chr7:153102578-153102683	ENSG00000234722
21	lnc-XRCC2-3	chr7:153220300-153220910	XLOC_006658
22	lnc-DPP6-3	chr7:153093149-153093207	XLOC_006297
23	lnc-DPP6-3	chr7:153092527-153092639	XLOC_006297

No data

Variant related genes	Relation type
ENSG00000233489	TF binding region
ENSG00000234722	TF binding region
ENSG00000233489	CpG island
ENSG00000234722	CpG island
ENSG00000236198	chromatin interactions
ENSG00000222281	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000234722	chromatin interactions
ENSG00000171222	chromatin interactions
ENSG00000223700	chromatin interactions
ENSG00000155380	chromatin interactions
ENSG00000261455	chromatin interactions
ENSG00000170832	chromatin interactions
ENSG00000233489	chromatin interactions
ENSG00000141371	chromatin interactions
ENSG00000197774	chromatin interactions
ENSG00000234338	chromatin interactions
CCT2	miRNA target sites
CDKN1A	miRNA target sites
LRRC1	miRNA target sites
DHX57	miRNA target sites
APAF1	miRNA target sites

Extended variants
information (count: 7906 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:7906 , 50 per page) page: 1 2 3 4 5 6 7 ... 159

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114895461	chr7:152992810-152992811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369848195	chr7:152992814-152992815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564528246	chr7:152992868-152992869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573544113	chr7:152992884-152992885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540938707	chr7:152992885-152992886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562219891	chr7:152992919-152992920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138377648	chr7:152992942-152992943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2140758	chr7:152993021-152993022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs6978062	chr7:152993032-152993033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530649123	chr7:152993038-152993039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146313239	chr7:152993070-152993071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187579166	chr7:152993075-152993076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192020317	chr7:152993100-152993101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5888506	chr7:152993126-152993127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3078064	chr7:152993127-152993128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1735088	chr7:152993144-152993145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs7791578	chr7:152993158-152993159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535276117	chr7:152993192-152993193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557147704	chr7:152993250-152993251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573500528	chr7:152993255-152993256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375469978	chr7:152993269-152993270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139037579	chr7:152993274-152993275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187611857	chr7:152993279-152993280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149941487	chr7:152993305-152993306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56879234	chr7:152993373-152993374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573277682	chr7:152993392-152993393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6464325	chr7:152993395-152993396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556089926	chr7:152993438-152993439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574422212	chr7:152993441-152993442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372014519	chr7:152993453-152993454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544534577	chr7:152993526-152993527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544459771	chr7:152993539-152993540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191275350	chr7:152993596-152993597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182818352	chr7:152993686-152993687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73728962	chr7:152993710-152993711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187143927	chr7:152993721-152993722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192275939	chr7:152993731-152993732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114161859	chr7:152993774-152993775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185112368	chr7:152993815-152993816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73485083	chr7:152993823-152993824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190099558	chr7:152993824-152993825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10952404	chr7:152993845-152993846	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550469573	chr7:152993890-152993891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569043691	chr7:152993908-152993909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12537736	chr7:152993915-152993916	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs193120141	chr7:152993945-152993946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567013916	chr7:152993953-152993954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534172234	chr7:152993958-152993959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73487046	chr7:152994024-152994025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185499204	chr7:152994045-152994046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	21509527	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

Chromatin state (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152992800-152993000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:152993000-152994400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:152993600-152994800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:152994000-152994400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:152994200-152994600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:152994200-152995600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:152994400-152994800	Enhancers	Placenta	Placenta
8	chr7:152994400-152995600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:152995200-152996200	Enhancers	Fetal Kidney	kidney
10	chr7:152995600-152997600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:152997600-152999600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:152998000-152999200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:152998200-152998400	Enhancers	Fetal Kidney	kidney
14	chr7:152999000-152999400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr7:152999400-152999600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr7:153016400-153017400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:153017000-153017800	Enhancers	Colon Smooth Muscle	Colon
18	chr7:153017000-153018400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:153017400-153017800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:153017800-153018600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:153018000-153018200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:153018200-153019000	Enhancers	Spleen	Spleen
23	chr7:153018400-153020400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:153018600-153020200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:153019800-153020400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:153020200-153020400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:153020400-153020600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:153020400-153020600	Enhancers	Brain Hippocampus Middle	brain
29	chr7:153020400-153021000	Enhancers	Fetal Brain Female	brain
30	chr7:153023600-153024200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:153026200-153026400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:153034800-153035200	Active TSS	Fetal Heart	heart
33	chr7:153046000-153046400	Active TSS	Fetal Heart	heart
34	chr7:153047400-153047600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:153067200-153067600	Enhancers	K562	blood
36	chr7:153067600-153082400	Weak transcription	K562	blood
37	chr7:153071000-153071200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:153071800-153072000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:153078000-153078800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:153078200-153078800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr7:153078400-153078600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:153078400-153078600	Enhancers	Brain Anterior Caudate	brain
43	chr7:153078400-153078600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr7:153078400-153078600	Enhancers	Fetal Kidney	kidney
45	chr7:153078400-153078600	Enhancers	Fetal Stomach	stomach
46	chr7:153078400-153078800	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr7:153078400-153078800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr7:153078400-153078800	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr7:153078400-153078800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr7:153078400-153078800	Active TSS	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links