Variant report

Variant	nsv948741
Chromosome Location	chr5:37179341-37582164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3953)
CpG islands
(count:2746)
Chromatin interactive
region (count:204)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3953 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:37412949-37413405	K562	blood:	n/a	n/a
2	ARID3A	chr5:37186654-37186894	K562	blood:	n/a	n/a
3	ARID3A	chr5:37435399-37435833	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:37576244-37577007	K562	blood:	n/a	chr5:37576689-37576705 chr5:37576688-37576704
5	ARID3A	chr5:37566412-37566482	K562	blood:	n/a	n/a
6	ARID3A	chr5:37555087-37555396	K562	blood:	n/a	n/a
7	ARID3A	chr5:37552742-37553918	K562	blood:	n/a	n/a
8	ARID3A	chr5:37349046-37349675	HepG2	liver:	n/a	n/a
9	ARID3A	chr5:37371166-37371527	K562	blood:	n/a	chr5:37371175-37371187
10	ARID3A	chr5:37413045-37413386	HepG2	liver:	n/a	n/a
11	ARID3A	chr5:37554224-37554305	K562	blood:	n/a	n/a
12	ARID3A	chr5:37435813-37436000	K562	blood:	n/a	chr5:37435891-37435907
13	ARID3A	chr5:37424736-37424788	HepG2	liver:	n/a	n/a
14	ARID3A	chr5:37187395-37187971	K562	blood:	n/a	n/a
15	ARID3A	chr5:37379206-37379473	K562	blood:	n/a	n/a
16	ARID3A	chr5:37371072-37371329	HepG2	liver:	n/a	chr5:37371175-37371187
17	ARID3A	chr5:37561556-37561928	K562	blood:	n/a	n/a
18	ARID3A	chr5:37249328-37249415	HepG2	liver:	n/a	n/a
19	ATF1	chr5:37370938-37371803	K562	blood:	n/a	n/a
20	ATF1	chr5:37576224-37576625	K562	blood:	n/a	n/a
21	ATF1	chr5:37413139-37413402	K562	blood:	n/a	n/a
22	ATF1	chr5:37379197-37379483	K562	blood:	n/a	n/a
23	ATF1	chr5:37552974-37553744	K562	blood:	n/a	n/a
24	ATF1	chr5:37212334-37212527	K562	blood:	n/a	n/a
25	ATF2	chr5:37379058-37379502	GM12878	blood:	n/a	n/a
26	ATF2	chr5:37370933-37371743	GM12878	blood:	n/a	n/a
27	ATF2	chr5:37379198-37379480	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr5:37370951-37371687	GM12878	blood:	n/a	n/a
29	ATF2	chr5:37370963-37371677	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr5:37370974-37371643	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr5:37249330-37249721	GM12878	blood:	n/a	n/a
32	ATF3	chr5:37379172-37379508	A549	lung:	n/a	n/a
33	ATF3	chr5:37370943-37371319	H1-hESC	embryonic stem cell:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
34	ATF3	chr5:37379108-37379491	K562	blood:	n/a	n/a
35	ATF3	chr5:37370993-37371683	A549	lung:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
36	ATF3	chr5:37370782-37371385	K562	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
37	ATF3	chr5:37379100-37379507	A549	lung:	n/a	n/a
38	ATF3	chr5:37272710-37273010	A549	lung:	n/a	n/a
39	ATF3	chr5:37413096-37413476	K562	blood:	n/a	n/a
40	ATF3	chr5:37370920-37371369	K562	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
41	ATF3	chr5:37199018-37199279	K562	blood:	n/a	n/a
42	ATF3	chr5:37370910-37371420	GM12878	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
43	ATF3	chr5:37371001-37371307	HepG2	liver:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
44	ATF3	chr5:37371073-37371320	GM12878	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
45	ATF3	chr5:37371024-37371385	H1-hESC	embryonic stem cell:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
46	BACH1	chr5:37226577-37226771	K562	blood:	n/a	n/a
47	BACH1	chr5:37305059-37305259	K562	blood:	n/a	n/a
48	BACH1	chr5:37553100-37553687	K562	blood:	n/a	n/a
49	BACH1	chr5:37371532-37371839	K562	blood:	n/a	n/a
50	BACH1	chr5:37512136-37512171	K562	blood:	n/a	n/a

(count:2746 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37211096-37211146	BE2_C	brain:	n/a
2	chr5:37211096-37211146	BE2_C	brain:	n/a
3	chr5:37322183-37322233	HRCEpiC	kidney:	n/a
4	chr5:37378050-37378100	Hepatocyte	liver:	n/a
5	chr5:37209182-37209232	HRE	kidney:	n/a
6	chr5:37371082-37371132	Hela-S3	cervix:	n/a
7	chr5:37370880-37370930	HAEpiC	amniotic membrane:	n/a
8	chr5:37378050-37378100	Caco-2	colon:	n/a
9	chr5:37379461-37379511	GM12891	blood:	n/a
10	chr5:37370967-37371017	SK-N-MC	brain:	n/a
11	chr5:37378229-37378279	T-47D	breast:	n/a
12	chr5:37379269-37379319	GM12878	blood:	n/a
13	chr5:37379272-37379322	PrEC	prostate:	n/a
14	chr5:37484025-37484075	NHBE	bronchial:	n/a
15	chr5:37251010-37251060	HEEpiC	esophagus:	n/a
16	chr5:37250092-37250142	AG04450	lung:	fetal
17	chr5:37248984-37249034	HEEpiC	esophagus:	n/a
18	chr5:37378229-37378279	H1-hESC	embryonic stem cell:	embryo
19	chr5:37249567-37249617	NT2-D1	testis:	n/a
20	chr5:37371056-37371106	HEK293	kidney:	embryo
21	chr5:37371628-37371678	ProgFib	skin:	n/a
22	chr5:37378050-37378100	HCF	heart:	n/a
23	chr5:37208976-37209026	AG10803	skin:	n/a
24	chr5:37370967-37371017	BE2_C	brain:	n/a
25	chr5:37249567-37249617	HNPCEpiC	eye:	n/a
26	chr5:37251010-37251060	H1-hESC	embryonic stem cell:	embryo
27	chr5:37484025-37484075	SKMC	muscle:	n/a
28	chr5:37371053-37371103	HL-60	blood:	n/a
29	chr5:37249405-37249455	AG04449	skin:	fetal
30	chr5:37251010-37251060	HCT-116	colon:	n/a
31	chr5:37379374-37379424	HEEpiC	esophagus:	n/a
32	chr5:37371082-37371132	ECC-1	luminal epithelium:	n/a
33	chr5:37371056-37371106	HL-60	blood:	n/a
34	chr5:37379396-37379446	T-47D	breast:	n/a
35	chr5:37379822-37379872	AG09309	skin:	n/a
36	chr5:37371082-37371132	GM12892	blood:	n/a
37	chr5:37248984-37249034	HIPEpiC	eye:	n/a
38	chr5:37208976-37209026	HRPEpiC	eye:	n/a
39	chr5:37211096-37211146	GM19239	blood:	n/a
40	chr5:37371047-37371097	SK-N-MC	brain:	n/a
41	chr5:37484025-37484075	SK-N-SH	brain:	n/a
42	chr5:37379267-37379317	GM12892	blood:	n/a
43	chr5:37371056-37371106	NT2-D1	testis:	n/a
44	chr5:37371213-37371263	AG10803	skin:	n/a
45	chr5:37379461-37379511	H1-hESC	embryonic stem cell:	embryo
46	chr5:37251010-37251060	Hela-S3	cervix:	n/a
47	chr5:37322183-37322233	A549	lung:	n/a
48	chr5:37378050-37378100	HCT-116	colon:	n/a
49	chr5:37371053-37371103	HRE	kidney:	n/a
50	chr5:37249567-37249617	BJ	skin:	n/a

(count:204 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr5:37370774..37371595-chr8:126009906..126010854,2	Hela-S3	cervix:
2	chr5:37370138..37373249-chr5:37374935..37377740,7	K562	blood:
3	chr5:37196006..37197813-chr5:37198667..37201494,2	K562	blood:
4	chr5:37539872..37542556-chr5:37548847..37552617,3	K562	blood:
5	chr5:37299270..37301087-chr5:37332798..37335148,2	K562	blood:
6	chr5:37364042..37368798-chr5:37369029..37374097,4	MCF-7	breast:
7	chr5:37296733..37298868-chr5:37344772..37346341,2	K562	blood:
8	chr5:37269632..37270132-chr7:82369579..82370242,2	MCF-7	breast:
9	chr12:95867838..95868385-chr5:37249139..37249647,2	Hela-S3	cervix:
10	chr5:37248573..37251161-chr5:37251715..37254222,2	MCF-7	breast:
11	chr5:37578232..37579991-chr5:37581584..37583169,2	MCF-7	breast:
12	chr5:37369760..37372730-chr5:37375256..37380889,7	MCF-7	breast:
13	chr5:37225065..37226567-chr5:37275200..37277689,2	K562	blood:
14	chr5:37398413..37401041-chr5:37401249..37404698,3	K562	blood:
15	chr5:37313041..37316016-chr5:37316235..37319015,2	K562	blood:
16	chr5:37329127..37329843-chr5:37340391..37341109,2	Hela-S3	cervix:
17	chr5:37397085..37398718-chr5:37402352..37404618,2	MCF-7	breast:
18	chr5:36733395..36735929-chr5:37371507..37374356,2	MCF-7	breast:
19	chr1:117601635..117602147-chr5:37379314..37380058,2	Hela-S3	cervix:
20	chr5:37318176..37320415-chr5:37333622..37336534,2	K562	blood:
21	chr5:37367445..37369110-chr5:37369671..37371335,2	MCF-7	breast:
22	chr5:37496762..37498368-chr5:37500019..37501730,2	MCF-7	breast:
23	chr5:37423699..37426165-chr5:37428640..37431370,2	MCF-7	breast:
24	chr11:75110443..75111008-chr5:37248561..37249187,2	Hela-S3	cervix:
25	chr5:37247385..37249387-chr5:37291319..37293555,2	MCF-7	breast:
26	chr5:37270941..37273083-chr5:37281934..37283634,2	MCF-7	breast:
27	chr5:37175215..37177693-chr5:37180001..37182944,2	K562	blood:
28	chr5:37349723..37351295-chr5:37369578..37371440,2	K562	blood:
29	chr5:37402028..37404137-chr5:37405155..37406834,2	K562	blood:
30	chr5:37559780..37563110-chr5:37563759..37567373,3	K562	blood:
31	chr5:37412788..37413557-chr5:38023669..38024455,2	MCF-7	breast:
32	chr5:37572624..37576201-chr5:37577602..37583153,5	K562	blood:
33	chr5:37341337..37344195-chr5:37360002..37362809,2	K562	blood:
34	chr5:37196006..37197813-chr5:37198667..37201494,2	K562	blood:
35	chr5:37370138..37373249-chr5:37374935..37377740,7	K562	blood:
36	chr5:37550784..37553523-chr5:37560304..37561961,2	MCF-7	breast:
37	chr5:37412825..37413381-chr5:37926629..37927147,2	MCF-7	breast:
38	chr5:37370037..37373489-chr5:37377973..37381470,5	K562	blood:
39	chr5:37313041..37316016-chr5:37316235..37320190,3	K562	blood:
40	chr5:37244319..37247437-chr5:37248031..37251100,3	MCF-7	breast:
41	chr5:37495049..37495731-chr5:37758036..37758591,2	MCF-7	breast:
42	chr5:37358150..37361413-chr5:37362395..37366227,3	K562	blood:
43	chr5:37326836..37328413-chr5:37330631..37332181,2	K562	blood:
44	chr5:37217019..37219861-chr5:37224561..37226290,2	MCF-7	breast:
45	chr5:37438128..37441611-chr5:37451601..37454118,3	K562	blood:
46	chr5:37370064..37373071-chr5:37393227..37395634,3	K562	blood:
47	chr11:67888391..67888933-chr5:37248964..37249645,2	Hela-S3	cervix:
48	chr5:37565296..37570234-chr5:37571928..37578079,8	K562	blood:
49	chr5:37308340..37310527-chr5:37313095..37315302,2	K562	blood:
50	chr5:37413098..37413750-chr5:37837537..37838115,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR70-4	chr5:37377986-37378073	NONHSAT101062
2	lnc-NUP155-2	chr5:37246277-37246581	NONHSAT101056
3	lnc-WDR70-5	chr5:37250499-37250654	NONHSAT101058
4	lnc-WDR70-5	chr5:37249174-37249323	NONHSAT101058
5	lnc-NIPBL-7	chr5:37379591-37379656	NONHSAT101065
6	lnc-NUP155-5	chr5:37505790-37506959	NONHSAT101066
7	lnc-WDR70-5	chr5:37248948-37249323	NONHSAT101057
8	lnc-WDR70-4	chr5:37377151-37377385	NONHSAT101062
9	lnc-C5orf42-5	chr5:37324306-37324596	expReg_chr5_1217_-
10	lnc-NIPBL-7	chr5:37379404-37379494	NONHSAT101065
11	lnc-WDR70-5	chr5:37254685-37254730	NONHSAT101057
12	lnc-NUP155-1	chr5:37286551-37287079	NONHSAT101059
13	lnc-NIPBL-7	chr5:37381704-37381911	NONHSAT101065

No data

Variant related genes	Relation type
OFD1P17	TF binding region
ENSG00000250455	TF binding region
ENSG00000270558	TF binding region
C5orf42	TF binding region
WDR70	TF binding region
ENSG00000248216	TF binding region
RN7SL37P	TF binding region
RNU7-75P	TF binding region
NUP155	TF binding region
OFD1P17	CpG island
ENSG00000250455	CpG island
ENSG00000270558	CpG island
C5orf42	CpG island
WDR70	CpG island
ENSG00000248216	CpG island
RN7SL37P	CpG island
RNU7-75P	CpG island
NUP155	CpG island
ENSG00000272173	chromatin interactions
ENSG00000046651	chromatin interactions
ENSG00000244165	chromatin interactions
ENSG00000253513	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000113569	chromatin interactions
ENSG00000164190	chromatin interactions
ENSG00000197603	chromatin interactions
ENSG00000104549	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000215190	chromatin interactions
ENSG00000180806	chromatin interactions
ENSG00000114779	chromatin interactions
ENSG00000250133	chromatin interactions
ENSG00000079999	chromatin interactions
ENSG00000243989	chromatin interactions
ENSG00000236137	chromatin interactions
ENSG00000242493	chromatin interactions
ENSG00000228212	chromatin interactions
ENSG00000105514	chromatin interactions
ENSG00000251880	chromatin interactions
ENSG00000184348	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000259895	chromatin interactions
ENSG00000248587	chromatin interactions
ENSG00000183666	chromatin interactions
ENSG00000110721	chromatin interactions
ENSG00000149273	chromatin interactions
ENSG00000196459	chromatin interactions
ENSG00000211455	chromatin interactions
ENSG00000214770	chromatin interactions
ENSG00000154222	chromatin interactions
ENSG00000111142	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000082068	chromatin interactions
ENSG00000145741	chromatin interactions
ENSG00000173209	chromatin interactions
ENSG00000250455	chromatin interactions

Extended variants
information (count: 15114 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:15114 , 50 per page) page: 1 2 3 4 5 6 7 ... 303

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6860727	chr5:37179341-37179342	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190510046	chr5:37179342-37179343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76119376	chr5:37179356-37179357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10042218	chr5:37179372-37179373	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529537299	chr5:37179373-37179374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374599319	chr5:37179414-37179415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57776860	chr5:37179423-37179424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368645718	chr5:37179424-37179425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200176085	chr5:37179446-37179447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181096718	chr5:37179455-37179456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185534019	chr5:37179456-37179457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190242054	chr5:37179500-37179501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565629362	chr5:37179547-37179548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570312147	chr5:37179550-37179551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148634159	chr5:37179551-37179552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555887327	chr5:37179575-37179576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534755414	chr5:37179646-37179647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567794807	chr5:37179714-37179715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142129609	chr5:37179769-37179770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553517640	chr5:37179770-37179771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182137339	chr5:37179876-37179877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117507678	chr5:37179880-37179881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554706935	chr5:37179914-37179915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558145269	chr5:37179932-37179933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72736756	chr5:37179974-37179975	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376420768	chr5:37180069-37180070	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs76200160	chr5:37180109-37180110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376797593	chr5:37180117-37180118	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536851859	chr5:37180120-37180121	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs151142386	chr5:37180126-37180127	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368347362	chr5:37180162-37180163	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373865796	chr5:37180205-37180206	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199524299	chr5:37180263-37180264	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113788455	chr5:37180268-37180269	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs368751039	chr5:37180277-37180278	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs34185052	chr5:37180282-37180283	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs370550452	chr5:37180297-37180298	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541664868	chr5:37180318-37180319	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs10472284	chr5:37180325-37180326	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs369468634	chr5:37180351-37180352	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs533686682	chr5:37180352-37180353	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs537890094	chr5:37180361-37180362	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs374086511	chr5:37180362-37180363	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs561989366	chr5:37180386-37180387	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs188063750	chr5:37180403-37180404	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs531235494	chr5:37180409-37180410	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549350969	chr5:37180416-37180417	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs567831934	chr5:37180464-37180465	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs62354987	chr5:37180490-37180491	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs372219923	chr5:37180515-37180516	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	22549408	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:8126 , 50 per page) page: 1 2 3 4 5 6 7 ... 163

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37112200-37198200	Weak transcription	Small Intestine	intestine
2	chr5:37113600-37222200	Weak transcription	Psoas Muscle	Psoas
3	chr5:37136200-37197200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:37138400-37196800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:37138600-37179600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:37143400-37189600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:37147200-37200600	Strong transcription	HSMM	muscle
8	chr5:37148000-37182000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:37148600-37189400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:37151600-37197400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:37159600-37197400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:37161000-37207200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:37161200-37179400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:37161200-37183800	Strong transcription	Dnd41	blood
15	chr5:37161200-37197400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:37161600-37179600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:37162000-37179800	Strong transcription	Placenta	Placenta
18	chr5:37162200-37179800	Strong transcription	Fetal Muscle Leg	muscle
19	chr5:37162400-37188600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:37162600-37180200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:37162600-37197400	Strong transcription	Adipose Nuclei	Adipose
22	chr5:37163000-37179800	Strong transcription	Fetal Thymus	thymus
23	chr5:37163200-37179600	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:37165200-37179600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:37165400-37179600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:37166400-37198400	Weak transcription	Stomach Mucosa	stomach
27	chr5:37166400-37213600	Weak transcription	HepG2	liver
28	chr5:37166600-37197400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:37167000-37194800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:37167200-37179400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr5:37167200-37181200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:37167200-37195000	Strong transcription	Fetal Intestine Large	intestine
33	chr5:37167600-37179600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:37168000-37179600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:37168200-37180000	Strong transcription	Osteobl	bone
36	chr5:37168800-37179400	Strong transcription	Colon Smooth Muscle	Colon
37	chr5:37168800-37179800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:37169600-37197200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:37169600-37214600	Weak transcription	Fetal Heart	heart
40	chr5:37170400-37235600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:37171200-37191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:37171400-37209000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:37171600-37197400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:37171600-37208200	Weak transcription	Gastric	stomach
45	chr5:37171600-37249000	Weak transcription	Spleen	Spleen
46	chr5:37172200-37196600	Weak transcription	Pancreas	Pancrea
47	chr5:37172200-37197200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr5:37172200-37207600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:37172200-37225000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:37172400-37192600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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