Variant report

Variant	nsv597823
Chromosome Location	chr5:37111565-37430365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3268)
CpG islands
(count:2685)
Chromatin interactive
region (count:162)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3268 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:37371166-37371527	K562	blood:	n/a	chr5:37371175-37371187
2	ARID3A	chr5:37349046-37349675	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:37379206-37379473	K562	blood:	n/a	n/a
4	ARID3A	chr5:37186654-37186894	K562	blood:	n/a	n/a
5	ARID3A	chr5:37187395-37187971	K562	blood:	n/a	n/a
6	ARID3A	chr5:37371072-37371329	HepG2	liver:	n/a	chr5:37371175-37371187
7	ARID3A	chr5:37412949-37413405	K562	blood:	n/a	n/a
8	ARID3A	chr5:37249328-37249415	HepG2	liver:	n/a	n/a
9	ARID3A	chr5:37424736-37424788	HepG2	liver:	n/a	n/a
10	ARID3A	chr5:37413045-37413386	HepG2	liver:	n/a	n/a
11	ATF1	chr5:37413139-37413402	K562	blood:	n/a	n/a
12	ATF1	chr5:37212334-37212527	K562	blood:	n/a	n/a
13	ATF1	chr5:37379197-37379483	K562	blood:	n/a	n/a
14	ATF1	chr5:37370938-37371803	K562	blood:	n/a	n/a
15	ATF2	chr5:37370974-37371643	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr5:37379058-37379502	GM12878	blood:	n/a	n/a
17	ATF2	chr5:37370951-37371687	GM12878	blood:	n/a	n/a
18	ATF2	chr5:37370933-37371743	GM12878	blood:	n/a	n/a
19	ATF2	chr5:37370963-37371677	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr5:37249330-37249721	GM12878	blood:	n/a	n/a
21	ATF2	chr5:37111802-37112401	GM12878	blood:	n/a	n/a
22	ATF2	chr5:37111632-37112319	GM12878	blood:	n/a	n/a
23	ATF2	chr5:37379198-37379480	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr5:37413096-37413476	K562	blood:	n/a	n/a
25	ATF3	chr5:37370920-37371369	K562	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
26	ATF3	chr5:37272710-37273010	A549	lung:	n/a	n/a
27	ATF3	chr5:37370943-37371319	H1-hESC	embryonic stem cell:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
28	ATF3	chr5:37199018-37199279	K562	blood:	n/a	n/a
29	ATF3	chr5:37371001-37371307	HepG2	liver:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
30	ATF3	chr5:37371024-37371385	H1-hESC	embryonic stem cell:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
31	ATF3	chr5:37370993-37371683	A549	lung:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
32	ATF3	chr5:37379172-37379508	A549	lung:	n/a	n/a
33	ATF3	chr5:37371073-37371320	GM12878	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
34	ATF3	chr5:37379108-37379491	K562	blood:	n/a	n/a
35	ATF3	chr5:37370782-37371385	K562	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
36	ATF3	chr5:37379100-37379507	A549	lung:	n/a	n/a
37	ATF3	chr5:37370910-37371420	GM12878	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
38	BACH1	chr5:37371532-37371839	K562	blood:	n/a	n/a
39	BACH1	chr5:37305059-37305259	K562	blood:	n/a	n/a
40	BACH1	chr5:37226577-37226771	K562	blood:	n/a	n/a
41	BACH1	chr5:37249622-37249625	H1-hESC	embryonic stem cell:	n/a	n/a
42	BATF	chr5:37111859-37112401	GM12878	blood:	n/a	n/a
43	BATF	chr5:37111589-37111819	GM12878	blood:	n/a	n/a
44	BATF	chr5:37184885-37185136	GM12878	blood:	n/a	n/a
45	BATF	chr5:37413135-37413360	GM12878	blood:	n/a	n/a
46	BATF	chr5:37111939-37112363	GM12878	blood:	n/a	n/a
47	BATF	chr5:37379223-37379461	GM12878	blood:	n/a	n/a
48	BCL11A	chr5:37197865-37198057	GM12878	blood:	n/a	n/a
49	BCL11A	chr5:37111903-37112326	GM12878	blood:	n/a	n/a
50	BCL11A	chr5:37111962-37112177	GM12878	blood:	n/a	n/a

(count:2685 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37208976-37209026	GM12892	blood:	n/a
2	chr5:37208976-37209026	GM12892	blood:	n/a
3	chr5:37250092-37250142	AG09319	gingival:	n/a
4	chr5:37249223-37249273	Hela-S3	cervix:	n/a
5	chr5:37378050-37378100	GM06990	blood:	n/a
6	chr5:37379374-37379424	HCF	heart:	n/a
7	chr5:37206515-37206565	CMK	blood:	n/a
8	chr5:37379272-37379322	GM12892	blood:	n/a
9	chr5:37208976-37209026	GM12878	blood:	n/a
10	chr5:37209440-37209490	MCF10A-Er-Src	breast:	n/a
11	chr5:37371628-37371678	GM19239	blood:	n/a
12	chr5:37379358-37379408	HIPEpiC	eye:	n/a
13	chr5:37248984-37249034	PFSK-1	brain:	n/a
14	chr5:37249223-37249273	HCF	heart:	n/a
15	chr5:37378050-37378100	AG04450	lung:	fetal
16	chr5:37208976-37209026	AG09319	gingival:	n/a
17	chr5:37378050-37378100	PFSK-1	brain:	n/a
18	chr5:37379267-37379317	HEEpiC	esophagus:	n/a
19	chr5:37379396-37379446	Jurkat	blood:	n/a
20	chr5:37208976-37209026	AG10803	skin:	n/a
21	chr5:37209182-37209232	AG04449	skin:	fetal
22	chr5:37379461-37379511	HIPEpiC	eye:	n/a
23	chr5:37250092-37250142	ovcar-3	ovarian:	n/a
24	chr5:37378229-37378279	RPTEC	kidney:	n/a
25	chr5:37371047-37371097	HRPEpiC	eye:	n/a
26	chr5:37250092-37250142	GM19239	blood:	n/a
27	chr5:37209332-37209382	HCPEpiC	choroid plexus:	n/a
28	chr5:37249909-37249959	HL-60	blood:	n/a
29	chr5:37371213-37371263	GM12878	blood:	n/a
30	chr5:37249567-37249617	A549	lung:	n/a
31	chr5:37249405-37249455	AG09309	skin:	n/a
32	chr5:37211096-37211146	AG09309	skin:	n/a
33	chr5:37370947-37370997	PFSK-1	brain:	n/a
34	chr5:37370947-37370997	AG10803	skin:	n/a
35	chr5:37371179-37371229	HEEpiC	esophagus:	n/a
36	chr5:37378229-37378279	HIPEpiC	eye:	n/a
37	chr5:37209182-37209232	HRCEpiC	kidney:	n/a
38	chr5:37209268-37209318	HUVEC	blood vessel:	n/a
39	chr5:37249405-37249455	AoSMC	blood vessel:	n/a
40	chr5:37206515-37206565	RPTEC	kidney:	n/a
41	chr5:37208976-37209026	ovcar-3	ovarian:	n/a
42	chr5:37371628-37371678	HPAEpiC	pulmonary alveolar:	n/a
43	chr5:37371047-37371097	ovcar-3	ovarian:	n/a
44	chr5:37209182-37209232	HCM	heart:	n/a
45	chr5:37379461-37379511	Hela-S3	cervix:	n/a
46	chr5:37249567-37249617	BJ	skin:	n/a
47	chr5:37249223-37249273	Hepatocyte	liver:	n/a
48	chr5:37211096-37211146	NHBE	bronchial:	n/a
49	chr5:37370967-37371017	HRPEpiC	eye:	n/a
50	chr5:37371179-37371229	HUVEC	blood vessel:	n/a

(count:162 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:37123727..37125351-chr5:37128419..37130769,2	K562	blood:
2	chr5:37402028..37404137-chr5:37405155..37406834,2	K562	blood:
3	chr5:37197567..37199786-chr5:37206533..37208192,2	MCF-7	breast:
4	chr5:37230434..37232617-chr5:37243518..37246467,2	K562	blood:
5	chr5:37413098..37413750-chr5:37837537..37838115,2	MCF-7	breast:
6	chr5:37225065..37226567-chr5:37275200..37277689,2	K562	blood:
7	chr5:37358150..37361413-chr5:37362395..37366227,3	K562	blood:
8	chr5:37296733..37298868-chr5:37344772..37346341,2	K562	blood:
9	chr5:37248340..37251803-chr5:37254807..37257992,3	MCF-7	breast:
10	chr5:37423699..37426165-chr5:37428640..37431370,2	MCF-7	breast:
11	chr5:37392088..37394720-chr5:37398631..37400477,2	K562	blood:
12	chr5:37398413..37401041-chr5:37401249..37404698,3	K562	blood:
13	chr5:37395673..37397370-chr5:37410862..37413241,2	MCF-7	breast:
14	chr5:37369760..37372730-chr5:37375256..37380889,7	MCF-7	breast:
15	chr5:37239505..37242479-chr5:37244689..37246213,2	MCF-7	breast:
16	chr5:37412783..37413436-chr5:37723453..37724202,2	K562	blood:
17	chr5:37379216..37379885-chr6:58287233..58287739,2	Hela-S3	cervix:
18	chr5:37313041..37316016-chr5:37316235..37319015,2	K562	blood:
19	chr5:37119936..37122344-chr5:37123495..37126044,2	K562	blood:
20	chr5:37389025..37391631-chr5:37392336..37394905,2	K562	blood:
21	chr5:37197697..37200304-chr5:37369735..37371837,2	MCF-7	breast:
22	chr3:52016674..52017877-chr5:37249098..37249636,3	Hela-S3	cervix:
23	chr5:37219759..37221366-chr5:37222603..37224859,2	K562	blood:
24	chr19:10443916..10444436-chr5:37370772..37371335,2	NB4	blood:
25	chr5:37161788..37164617-chr5:37168284..37171187,2	K562	blood:
26	chr5:37244319..37247437-chr5:37248031..37251100,3	MCF-7	breast:
27	chr5:37349723..37351295-chr5:37369578..37371440,2	K562	blood:
28	chr5:37412768..37413768-chr5:38192655..38193859,13	MCF-7	breast:
29	chr1:11967776..11968487-chr5:37370635..37371332,2	Hela-S3	cervix:
30	chr5:37313041..37316016-chr5:37316235..37319015,2	K562	blood:
31	chr5:37189588..37191318-chr5:37194423..37196397,2	K562	blood:
32	chr5:37231083..37232617-chr5:37243518..37245919,2	K562	blood:
33	chr17:41465731..41466245-chr5:37249205..37250047,2	Hela-S3	cervix:
34	chr5:37370138..37373249-chr5:37374935..37377740,7	K562	blood:
35	chr5:37112874..37116886-chr5:37117758..37121364,3	K562	blood:
36	chr5:37313041..37316016-chr5:37316235..37320190,3	K562	blood:
37	chr5:37242850..37244799-chr5:37268818..37270992,2	MCF-7	breast:
38	chr19:55918635..55919160-chr5:37249246..37250155,2	Hela-S3	cervix:
39	chr5:37219759..37221366-chr5:37222603..37224859,2	K562	blood:
40	chr5:37412806..37413850-chr5:37900474..37901433,3	MCF-7	breast:
41	chr5:37231083..37232617-chr5:37243518..37245919,2	K562	blood:
42	chr5:37412800..37413850-chr5:37837177..37838175,5	MCF-7	breast:
43	chr19:10612852..10613551-chr5:37248973..37249815,2	NB4	blood:
44	chr5:37207387..37209456-chr5:37214290..37217220,2	K562	blood:
45	chr5:37247385..37249387-chr5:37291319..37293555,2	MCF-7	breast:
46	chr5:37217019..37219861-chr5:37224561..37226290,2	MCF-7	breast:
47	chr5:37363225..37366000-chr5:37368563..37371283,3	K562	blood:
48	chr5:37219467..37221366-chr5:37223359..37224948,2	K562	blood:
49	chr5:37413110..37413637-chr5:37840070..37840640,2	MCF-7	breast:
50	chr5:37189588..37191318-chr5:37194423..37196397,2	K562	blood:

(count:22 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 11893 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:11893 , 50 per page) page: 1 2 3 4 5 6 7 ... 238

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs301904	chr5:37111565-37111566	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs13156249	chr5:37111678-37111679	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs13156250	chr5:37111679-37111680	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs13176516	chr5:37111733-37111734	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190530841	chr5:37111755-37111756	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182374949	chr5:37111862-37111863	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75321543	chr5:37111872-37111873	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535442414	chr5:37111902-37111903	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553756144	chr5:37111922-37111923	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563119323	chr5:37111995-37111996	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11464119	chr5:37111996-37111997	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs3065142	chr5:37112005-37112006	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572067288	chr5:37112011-37112012	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556787687	chr5:37112054-37112055	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs57402531	chr5:37112077-37112078	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557871659	chr5:37112139-37112140	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs561026763	chr5:37112145-37112146	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576215324	chr5:37112148-37112149	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543225133	chr5:37112181-37112182	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562031969	chr5:37112223-37112224	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573815828	chr5:37112227-37112228	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs186458714	chr5:37112232-37112233	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs190886885	chr5:37112258-37112259	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182498057	chr5:37112333-37112334	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs116216187	chr5:37112405-37112406	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545637837	chr5:37112449-37112450	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187972212	chr5:37112480-37112481	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565542081	chr5:37112500-37112501	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531148254	chr5:37112558-37112559	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549267644	chr5:37112562-37112563	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528007050	chr5:37112564-37112565	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79769079	chr5:37112585-37112586	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547303517	chr5:37112647-37112648	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs193091261	chr5:37112658-37112659	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541390882	chr5:37112662-37112663	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183546768	chr5:37112689-37112690	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539420657	chr5:37112736-37112737	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557910067	chr5:37112742-37112743	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569615869	chr5:37112948-37112949	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368087877	chr5:37113039-37113040	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537263634	chr5:37113054-37113055	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187389355	chr5:37113066-37113067	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529758973	chr5:37113068-37113069	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192179021	chr5:37113089-37113090	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57623608	chr5:37113248-37113249	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs184064773	chr5:37113349-37113350	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546526891	chr5:37113361-37113362	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs301903	chr5:37113374-37113375	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530201335	chr5:37113382-37113383	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549821157	chr5:37113424-37113425	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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

Chromatin state (count:8036 , 50 per page) page: 1 2 3 4 5 6 7 ... 161

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37080200-37112000	Weak transcription	Fetal Heart	heart
2	chr5:37082800-37169200	Weak transcription	Spleen	Spleen
3	chr5:37087200-37113600	Weak transcription	NH-A	brain
4	chr5:37100800-37112000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:37101200-37115000	Weak transcription	A549	lung
6	chr5:37101400-37113400	Weak transcription	Brain Substantia Nigra	brain
7	chr5:37102200-37114400	Weak transcription	HMEC	breast
8	chr5:37102600-37115800	Strong transcription	HSMM	muscle
9	chr5:37102600-37121600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:37102800-37111600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:37102800-37112200	Weak transcription	HUVEC	blood vessel
12	chr5:37102800-37114200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:37103000-37113200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:37103600-37115800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:37103600-37135400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:37103800-37113600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:37103800-37143200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:37104800-37113400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:37105200-37119000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:37105400-37113200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:37105400-37113400	Weak transcription	Fetal Kidney	kidney
22	chr5:37105400-37114200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:37105400-37114800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:37105400-37120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:37105400-37136400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:37105600-37111600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:37105800-37156200	Weak transcription	NHLF	lung
28	chr5:37106000-37143400	Weak transcription	HepG2	liver
29	chr5:37106200-37150200	Weak transcription	NHEK	skin
30	chr5:37107000-37115400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:37107000-37122000	Strong transcription	Fetal Muscle Leg	muscle
32	chr5:37107000-37122600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr5:37108000-37112800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:37108200-37113200	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:37108200-37117800	Weak transcription	Esophagus	oesophagus
36	chr5:37108200-37143800	Weak transcription	Gastric	stomach
37	chr5:37108600-37111600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr5:37108600-37111600	Weak transcription	Fetal Brain Male	brain
39	chr5:37108600-37111600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:37108600-37112000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr5:37108600-37112600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:37108600-37113000	Weak transcription	Fetal Stomach	stomach
43	chr5:37108600-37113200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:37108600-37113400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:37108600-37113400	Weak transcription	Ovary	ovary
46	chr5:37108600-37113600	Weak transcription	Primary B cells from cord blood	blood
47	chr5:37108600-37117000	Weak transcription	Pancreas	Pancrea
48	chr5:37108600-37126400	Weak transcription	Lung	lung
49	chr5:37108600-37128200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:37108600-37139600	Weak transcription	Right Ventricle	heart

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