Variant report

Variant	nsv537727
Chromosome Location	chr5:37115142-37586211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4150)
CpG islands
(count:2748)
Chromatin interactive
region (count:216)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4150 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

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

(count:2748 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37379358-37379408	NB4	blood:	n/a
2	chr5:37249223-37249273	T-47D	breast:	n/a
3	chr5:37209332-37209382	GM19239	blood:	n/a
4	chr5:37379358-37379408	NB4	blood:	n/a
5	chr5:37249223-37249273	T-47D	breast:	n/a
6	chr5:37209332-37209382	GM19239	blood:	n/a
7	chr5:37371056-37371106	HRPEpiC	eye:	n/a
8	chr5:37371053-37371103	HCM	heart:	n/a
9	chr5:37379822-37379872	GM19239	blood:	n/a
10	chr5:37379374-37379424	LNCaP	prostate:	n/a
11	chr5:37251010-37251060	HIPEpiC	eye:	n/a
12	chr5:37379461-37379511	U87	brain:	n/a
13	chr5:37211096-37211146	AG09309	skin:	n/a
14	chr5:37251010-37251060	HUVEC	blood vessel:	n/a
15	chr5:37371555-37371605	BJ	skin:	n/a
16	chr5:37371628-37371678	NT2-D1	testis:	n/a
17	chr5:37484025-37484075	RPTEC	kidney:	n/a
18	chr5:37371056-37371106	HEK293	kidney:	embryo
19	chr5:37371074-37371124	HCF	heart:	n/a
20	chr5:37371053-37371103	GM12891	blood:	n/a
21	chr5:37370947-37370997	HCT-116	colon:	n/a
22	chr5:37371192-37371242	ovcar-3	ovarian:	n/a
23	chr5:37371192-37371242	Hepatocyte	liver:	n/a
24	chr5:37249909-37249959	U87	brain:	n/a
25	chr5:37379269-37379319	HPAEpiC	pulmonary alveolar:	n/a
26	chr5:37371179-37371229	AG04449	skin:	fetal
27	chr5:37379269-37379319	SK-N-MC	brain:	n/a
28	chr5:37378229-37378279	MCF10A-Er-Src	breast:	n/a
29	chr5:37370947-37370997	HIPEpiC	eye:	n/a
30	chr5:37249909-37249959	HepG2	liver:	n/a
31	chr5:37379272-37379322	GM19239	blood:	n/a
32	chr5:37371047-37371097	AG10803	skin:	n/a
33	chr5:37379396-37379446	IMR90	lung:	fetal
34	chr5:37212448-37212498	SKMC	muscle:	n/a
35	chr5:37378360-37378410	U87	brain:	n/a
36	chr5:37378272-37378322	RPTEC	kidney:	n/a
37	chr5:37371053-37371103	AoSMC	blood vessel:	n/a
38	chr5:37249567-37249617	AG10803	skin:	n/a
39	chr5:37371628-37371678	ECC-1	luminal epithelium:	n/a
40	chr5:37322183-37322233	BJ	skin:	n/a
41	chr5:37207622-37207672	BJ	skin:	n/a
42	chr5:37371192-37371242	Hela-S3	cervix:	n/a
43	chr5:37371192-37371242	AG04450	lung:	fetal
44	chr5:37250092-37250142	NHDF-neo	bronchial:	n/a
45	chr5:37211096-37211146	NH-A	brain:	n/a
46	chr5:37209182-37209232	PFSK-1	brain:	n/a
47	chr5:37248984-37249034	Jurkat	blood:	n/a
48	chr5:37378050-37378100	SAEC	small airway:	n/a
49	chr5:37248894-37248944	IMR90	lung:	fetal
50	chr5:37207622-37207672	HRCEpiC	kidney:	n/a

(count:216 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr5:37198464..37201243-chr5:37207521..37209489,3	MCF-7	breast:
2	chr5:37369760..37372730-chr5:37375256..37380889,7	MCF-7	breast:
3	chr11:75110443..75111008-chr5:37248561..37249187,2	Hela-S3	cervix:
4	chr5:37230434..37232617-chr5:37243518..37246467,2	K562	blood:
5	chr5:37361813..37365556-chr5:37369411..37373994,6	K562	blood:
6	chr5:37438128..37441611-chr5:37451601..37454118,3	K562	blood:
7	chr16:2517911..2518776-chr5:37248952..37249746,2	Hela-S3	cervix:
8	chr5:37119936..37122344-chr5:37123495..37126044,2	K562	blood:
9	chr5:37189588..37191318-chr5:37194423..37196397,2	K562	blood:
10	chr5:37197567..37199786-chr5:37206533..37208192,2	MCF-7	breast:
11	chr5:37248619..37249243-chr7:5562577..5563334,2	Hela-S3	cervix:
12	chr5:37543508..37545182-chr5:37552537..37554107,2	K562	blood:
13	chr5:37178213..37179782-chr5:37187972..37190398,2	K562	blood:
14	chr5:37189588..37191318-chr5:37194423..37196397,2	K562	blood:
15	chr5:37112874..37116886-chr5:37117758..37121364,3	K562	blood:
16	chr5:37379216..37379885-chr6:58287233..58287739,2	Hela-S3	cervix:
17	chr5:37569124..37569718-chr8:118852447..118853416,2	MCF-7	breast:
18	chr5:37299270..37301087-chr5:37332798..37335148,2	K562	blood:
19	chr5:37572624..37576201-chr5:37577602..37583153,5	K562	blood:
20	chr5:37370138..37373249-chr5:37374935..37377740,7	K562	blood:
21	chr5:37207387..37209456-chr5:37214290..37217220,2	K562	blood:
22	chr5:37402668..37405027-chr5:37408741..37410429,2	K562	blood:
23	chr5:37378209..37381818-chr5:37388003..37389859,3	K562	blood:
24	chr5:37551924..37555267-chr5:37556271..37558320,3	K562	blood:
25	chr5:37161788..37164617-chr5:37168284..37171187,2	K562	blood:
26	chr5:37413110..37413637-chr5:37840070..37840640,2	MCF-7	breast:
27	chr5:37225065..37226567-chr5:37275200..37277689,2	K562	blood:
28	chr5:37543508..37545182-chr5:37552537..37554107,2	K562	blood:
29	chr19:10222166..10222747-chr5:37249630..37250278,2	NB4	blood:
30	chr5:37348597..37351209-chr5:37351351..37353763,2	K562	blood:
31	chr5:37495029..37495917-chr5:37837475..37838072,2	MCF-7	breast:
32	chr5:37496762..37498368-chr5:37500019..37501730,2	MCF-7	breast:
33	chr5:37326836..37328413-chr5:37330631..37332181,2	K562	blood:
34	chr5:37370774..37371595-chr8:126009906..126010854,2	Hela-S3	cervix:
35	chr5:37248443..37250196-chr5:37254645..37256658,2	MCF-7	breast:
36	chr5:37362418..37364207-chr5:37369498..37371536,2	MCF-7	breast:
37	chr5:37239505..37242479-chr5:37244689..37246213,2	MCF-7	breast:
38	chr5:37551924..37555267-chr5:37556271..37558320,3	K562	blood:
39	chr5:37572624..37576201-chr5:37577602..37583153,5	K562	blood:
40	chr5:37550616..37553710-chr5:37559318..37562633,4	K562	blood:
41	chr5:37217019..37219861-chr5:37224561..37226290,2	MCF-7	breast:
42	chr5:37247385..37249387-chr5:37291319..37293555,2	MCF-7	breast:
43	chr5:37503334..37505446-chr5:37509179..37510910,2	K562	blood:
44	chr5:37318176..37320415-chr5:37333622..37336534,2	K562	blood:
45	chr5:37197567..37199786-chr5:37206533..37208192,2	MCF-7	breast:
46	chr5:37244319..37247437-chr5:37248031..37251100,3	MCF-7	breast:
47	chr5:37341337..37344195-chr5:37360002..37362809,2	K562	blood:
48	chr12:27397103..27397782-chr5:37248907..37249410,2	Hela-S3	cervix:
49	chr19:10443916..10444436-chr5:37370772..37371335,2	NB4	blood:
50	chr5:37539872..37542556-chr5:37548847..37552617,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NIPBL-5	chr5:37130532-37130802	NONHSAT101052
2	lnc-NUP155-3	chr5:37173857-37174049	NONHSAT101055
3	lnc-WDR70-4	chr5:37377151-37377385	NONHSAT101062
4	lnc-NUP155-3	chr5:37170143-37170433	NONHSAT101055
5	lnc-NIPBL-7	chr5:37379591-37379656	NONHSAT101065
6	lnc-NUP155-3	chr5:37176011-37176201	NONHSAT101055
7	lnc-WDR70-4	chr5:37377986-37378073	NONHSAT101062
8	lnc-NIPBL-7	chr5:37379404-37379494	NONHSAT101065
9	lnc-NUP155-6	chr5:37139442-37139689	NONHSAT101053
10	lnc-NUP155-1	chr5:37286551-37287079	NONHSAT101059
11	lnc-NUP155-2	chr5:37246277-37246581	NONHSAT101056
12	lnc-WDR70-5	chr5:37254685-37254730	NONHSAT101057
13	lnc-NUP155-4	chr5:37157770-37157916	NONHSAT101054
14	lnc-WDR70-5	chr5:37250499-37250654	NONHSAT101058
15	lnc-C5orf42-5	chr5:37324306-37324596	expReg_chr5_1217_-
16	lnc-NUP155-3	chr5:37169634-37169663	NONHSAT101055
17	lnc-NUP155-4	chr5:37162567-37162756	NONHSAT101054
18	lnc-NUP155-6	chr5:37138788-37138950	NONHSAT101053
19	lnc-WDR70-5	chr5:37249174-37249323	NONHSAT101058
20	lnc-NUP155-4	chr5:37158326-37158447	NONHSAT101054
21	lnc-NUP155-5	chr5:37505790-37506959	NONHSAT101066
22	lnc-WDR70-5	chr5:37248948-37249323	NONHSAT101057
23	lnc-NIPBL-7	chr5:37381704-37381911	NONHSAT101065

No data

Variant related genes	Relation type
C5orf42	TF binding region
WDR70	TF binding region
OFD1P17	TF binding region
ENSG00000248216	TF binding region
ENSG00000250455	TF binding region
ENSG00000271378	TF binding region
RN7SL37P	TF binding region
ENSG00000270558	TF binding region
RNU7-75P	TF binding region
NUP155	TF binding region
C5orf42	CpG island
WDR70	CpG island
OFD1P17	CpG island
ENSG00000248216	CpG island
ENSG00000250455	CpG island
ENSG00000271378	CpG island
RN7SL37P	CpG island
ENSG00000270558	CpG island
RNU7-75P	CpG island
NUP155	CpG island
ENSG00000253513	chromatin interactions
ENSG00000184348	chromatin interactions
ENSG00000244165	chromatin interactions
ENSG00000214770	chromatin interactions
ENSG00000211455	chromatin interactions
ENSG00000173209	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000180806	chromatin interactions
ENSG00000236137	chromatin interactions
ENSG00000110721	chromatin interactions
ENSG00000113569	chromatin interactions
ENSG00000104549	chromatin interactions
ENSG00000228212	chromatin interactions
ENSG00000046651	chromatin interactions
ENSG00000183666	chromatin interactions
ENSG00000105514	chromatin interactions
ENSG00000271378	chromatin interactions
ENSG00000082068	chromatin interactions
ENSG00000259895	chromatin interactions
ENSG00000111142	chromatin interactions
ENSG00000149273	chromatin interactions
ENSG00000114779	chromatin interactions
ENSG00000242493	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000251880	chromatin interactions
ENSG00000248587	chromatin interactions
ENSG00000243989	chromatin interactions
ENSG00000145741	chromatin interactions
ENSG00000164190	chromatin interactions
ENSG00000154222	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000196459	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000250455	chromatin interactions
ENSG00000272173	chromatin interactions
ENSG00000250133	chromatin interactions
ENSG00000079999	chromatin interactions
ENSG00000215190	chromatin interactions
ENSG00000197603	chromatin interactions

Extended variants
information (count: 17550 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:17550 , 50 per page) page: 1 2 3 4 5 6 7 ... 351

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534333376	chr5:37115171-37115172	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs371346735	chr5:37115178-37115179	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs375906283	chr5:37115195-37115196	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs370011303	chr5:37115196-37115197	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541401370	chr5:37115206-37115207	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs116511206	chr5:37115238-37115239	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs577543111	chr5:37115239-37115240	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs567945871	chr5:37115276-37115277	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs544754733	chr5:37115304-37115305	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs563048634	chr5:37115340-37115341	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191368032	chr5:37115491-37115492	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542153529	chr5:37115508-37115509	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs114069802	chr5:37115574-37115575	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs368384083	chr5:37115699-37115700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542058701	chr5:37115700-37115701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574695941	chr5:37115888-37115889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528062050	chr5:37115889-37115890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546316505	chr5:37115914-37115915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80284359	chr5:37115990-37115991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532224135	chr5:37115994-37115995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534040207	chr5:37116075-37116076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6867406	chr5:37116079-37116080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550711006	chr5:37116126-37116127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563408284	chr5:37116154-37116155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569060655	chr5:37116162-37116163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184573821	chr5:37116167-37116168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7708689	chr5:37116183-37116184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532503915	chr5:37116200-37116201	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548496250	chr5:37116217-37116218	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566909870	chr5:37116218-37116219	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534163780	chr5:37116305-37116306	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189254148	chr5:37116314-37116315	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570881206	chr5:37116319-37116320	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554110818	chr5:37116338-37116339	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147516210	chr5:37116423-37116424	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556760553	chr5:37116431-37116432	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574923053	chr5:37116451-37116452	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542150862	chr5:37116455-37116456	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13183256	chr5:37116496-37116497	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572525592	chr5:37116501-37116502	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539807219	chr5:37116545-37116546	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72483586	chr5:37116588-37116589	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs70976277	chr5:37116617-37116618	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564649625	chr5:37116645-37116646	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528380176	chr5:37116657-37116658	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371375811	chr5:37116677-37116678	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543969984	chr5:37116700-37116701	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73750931	chr5:37116735-37116736	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548147428	chr5:37116792-37116793	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548532574	chr5:37116798-37116799	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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	22037309	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:9568 , 50 per page) page: 1 2 3 4 5 6 7 ... 192

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37082800-37169200	Weak transcription	Spleen	Spleen
2	chr5:37102600-37115800	Strong transcription	HSMM	muscle
3	chr5:37102600-37121600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:37103600-37115800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:37103600-37135400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:37103800-37143200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:37105200-37119000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:37105400-37120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:37105400-37136400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:37105800-37156200	Weak transcription	NHLF	lung
11	chr5:37106000-37143400	Weak transcription	HepG2	liver
12	chr5:37106200-37150200	Weak transcription	NHEK	skin
13	chr5:37107000-37115400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:37107000-37122000	Strong transcription	Fetal Muscle Leg	muscle
15	chr5:37107000-37122600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr5:37108200-37117800	Weak transcription	Esophagus	oesophagus
17	chr5:37108200-37143800	Weak transcription	Gastric	stomach
18	chr5:37108600-37117000	Weak transcription	Pancreas	Pancrea
19	chr5:37108600-37126400	Weak transcription	Lung	lung
20	chr5:37108600-37128200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:37108600-37139600	Weak transcription	Right Ventricle	heart
22	chr5:37109200-37117800	Weak transcription	Colonic Mucosa	Colon
23	chr5:37109600-37136400	Weak transcription	Brain Angular Gyrus	brain
24	chr5:37109600-37137800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:37110000-37118600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:37110400-37125800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:37110800-37120400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:37111200-37115600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:37111400-37121800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr5:37111400-37122200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:37111600-37115200	Strong transcription	Colon Smooth Muscle	Colon
32	chr5:37111600-37115400	Strong transcription	Hela-S3	cervix
33	chr5:37111600-37115600	Strong transcription	Liver	Liver
34	chr5:37111600-37115800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:37111600-37117800	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr5:37111800-37117000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:37111800-37122600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:37112000-37115400	Strong transcription	Placenta	Placenta
39	chr5:37112000-37115400	Strong transcription	Left Ventricle	heart
40	chr5:37112000-37115600	Strong transcription	Adipose Nuclei	Adipose
41	chr5:37112000-37115800	Strong transcription	Brain Anterior Caudate	brain
42	chr5:37112000-37118600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr5:37112000-37122400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:37112200-37115400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:37112200-37115400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:37112200-37115400	Strong transcription	Fetal Brain Female	brain
47	chr5:37112200-37198200	Weak transcription	Small Intestine	intestine
48	chr5:37112400-37121800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:37112400-37122200	Strong transcription	HSMMtube	muscle
50	chr5:37112400-37122200	Strong transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links