Variant report

Variant	nsv901608
Chromosome Location	chr14:35449467-35571651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2288)
CpG islands
(count:1652)
Chromatin interactive
region (count:151)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:2288 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:35509539-35510010	HepG2	liver:	n/a	chr14:35509792-35509808
2	ARID3A	chr14:35521017-35521344	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:35449799-35452898	HepG2	liver:	n/a	chr14:35452584-35452600
4	ARID3A	chr14:35519909-35520120	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:35537558-35537700	HepG2	liver:	n/a	n/a
6	ARID3A	chr14:35519876-35520224	K562	blood:	n/a	n/a
7	ARID3A	chr14:35456533-35456710	HepG2	liver:	n/a	n/a
8	ARID3A	chr14:35450353-35450528	K562	blood:	n/a	n/a
9	ARID3A	chr14:35516133-35516303	HepG2	liver:	n/a	n/a
10	ARID3A	chr14:35514746-35515759	HepG2	liver:	n/a	n/a
11	ARID3A	chr14:35547257-35547542	HepG2	liver:	n/a	n/a
12	ATF1	chr14:35517147-35517386	K562	blood:	n/a	n/a
13	ATF1	chr14:35451277-35452397	K562	blood:	n/a	chr14:35452182-35452196
14	ATF1	chr14:35515122-35515876	K562	blood:	n/a	n/a
15	ATF1	chr14:35519862-35520172	K562	blood:	n/a	n/a
16	ATF2	chr14:35515000-35515488	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr14:35504149-35504484	GM12878	blood:	n/a	n/a
18	ATF2	chr14:35515153-35515540	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr14:35515054-35515466	GM12878	blood:	n/a	n/a
20	ATF2	chr14:35451363-35452438	H1-hESC	embryonic stem cell:	n/a	chr14:35452182-35452196
21	ATF2	chr14:35514853-35515586	GM12878	blood:	n/a	n/a
22	ATF2	chr14:35451237-35452526	GM12878	blood:	n/a	chr14:35452182-35452196
23	ATF2	chr14:35451431-35452788	GM12878	blood:	n/a	chr14:35452182-35452196
24	ATF2	chr14:35451408-35452422	H1-hESC	embryonic stem cell:	n/a	chr14:35452182-35452196
25	ATF3	chr14:35451382-35452359	A549	lung:	n/a	n/a
26	ATF3	chr14:35515137-35515513	K562	blood:	n/a	chr14:35515349-35515364 chr14:35515353-35515360 chr14:35515353-35515361 chr14:35515353-35515363 chr14:35515352-35515360 chr14:35515350-35515363 chr14:35515353-35515363
27	ATF3	chr14:35451470-35452221	A549	lung:	n/a	n/a
28	BACH1	chr14:35451138-35451216	K562	blood:	n/a	n/a
29	BACH1	chr14:35519638-35520190	K562	blood:	n/a	chr14:35520008-35520022
30	BACH1	chr14:35519875-35520207	H1-hESC	embryonic stem cell:	n/a	chr14:35520008-35520022
31	BACH1	chr14:35515145-35516116	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr14:35504189-35504612	GM12878	blood:	n/a	chr14:35504383-35504394
33	BATF	chr14:35515132-35515392	GM12878	blood:	n/a	chr14:35515350-35515363
34	BATF	chr14:35502715-35503130	GM12878	blood:	n/a	chr14:35502942-35502953
35	BATF	chr14:35504265-35504563	GM12878	blood:	n/a	chr14:35504383-35504394
36	BATF	chr14:35502850-35503057	GM12878	blood:	n/a	chr14:35502942-35502953
37	BCL11A	chr14:35504236-35504481	GM12878	blood:	n/a	n/a
38	BCL3	chr14:35515089-35515763	GM12878	blood:	n/a	chr14:35515406-35515415
39	BCL3	chr14:35451306-35452403	A549	lung:	n/a	chr14:35452052-35452061 chr14:35451657-35451665
40	BCL3	chr14:35451369-35452377	GM12878	blood:	n/a	chr14:35452052-35452061 chr14:35451657-35451665
41	BCL3	chr14:35515416-35515871	A549	lung:	n/a	n/a
42	BCL3	chr14:35451609-35452394	A549	lung:	n/a	chr14:35452052-35452061 chr14:35451657-35451665
43	BCLAF1	chr14:35514960-35515869	GM12878	blood:	n/a	chr14:35515406-35515415
44	BCLAF1	chr14:35451328-35452663	GM12878	blood:	n/a	chr14:35452052-35452061 chr14:35451657-35451665
45	BCLAF1	chr14:35450327-35450834	GM12878	blood:	n/a	n/a
46	BCLAF1	chr14:35451265-35452591	GM12878	blood:	n/a	chr14:35452052-35452061 chr14:35451657-35451665
47	BHLHE40	chr14:35451594-35452335	HepG2	liver:	n/a	chr14:35451857-35451870 chr14:35451658-35451674
48	BHLHE40	chr14:35516561-35516712	GM12878	blood:	n/a	n/a
49	BHLHE40	chr14:35514837-35515868	HepG2	liver:	n/a	n/a
50	BHLHE40	chr14:35450405-35450477	K562	blood:	n/a	n/a

(count:1652 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:35451556-35451606	AoSMC	blood vessel:	n/a
2	chr14:35450692-35450742	HCT-116	colon:	n/a
3	chr14:35450692-35450742	Jurkat	blood:	n/a
4	chr14:35515291-35515341	AG09319	gingival:	n/a
5	chr14:35451807-35451857	HCF	heart:	n/a
6	chr14:35451556-35451606	AoSMC	blood vessel:	n/a
7	chr14:35450692-35450742	HCT-116	colon:	n/a
8	chr14:35450692-35450742	Jurkat	blood:	n/a
9	chr14:35515291-35515341	AG09319	gingival:	n/a
10	chr14:35451807-35451857	HCF	heart:	n/a
11	chr14:35451935-35451985	H1-hESC	embryonic stem cell:	embryo
12	chr14:35451793-35451843	GM12891	blood:	n/a
13	chr14:35451793-35451843	NT2-D1	testis:	n/a
14	chr14:35452110-35452160	HIPEpiC	eye:	n/a
15	chr14:35451914-35451964	HRPEpiC	eye:	n/a
16	chr14:35495536-35495586	ovcar-3	ovarian:	n/a
17	chr14:35515356-35515406	ovcar-3	ovarian:	n/a
18	chr14:35451962-35452012	AG04450	lung:	fetal
19	chr14:35451962-35452012	AG09319	gingival:	n/a
20	chr14:35515291-35515341	NT2-D1	testis:	n/a
21	chr14:35451793-35451843	IMR90	lung:	fetal
22	chr14:35452110-35452160	NH-A	brain:	n/a
23	chr14:35451965-35452015	SK-N-SH	brain:	n/a
24	chr14:35515116-35515166	HAEpiC	amniotic membrane:	n/a
25	chr14:35512367-35512417	BJ	skin:	n/a
26	chr14:35451793-35451843	HEEpiC	esophagus:	n/a
27	chr14:35452046-35452096	HNPCEpiC	eye:	n/a
28	chr14:35452176-35452226	GM12891	blood:	n/a
29	chr14:35451965-35452015	MCF-7	breast:	n/a
30	chr14:35451984-35452034	HCM	heart:	n/a
31	chr14:35452110-35452160	GM06990	blood:	n/a
32	chr14:35450692-35450742	MCF-7	breast:	n/a
33	chr14:35512367-35512417	NT2-D1	testis:	n/a
34	chr14:35452420-35452470	HEEpiC	esophagus:	n/a
35	chr14:35498490-35498540	BE2_C	brain:	n/a
36	chr14:35516283-35516333	HEK293	kidney:	embryo
37	chr14:35451984-35452034	HEEpiC	esophagus:	n/a
38	chr14:35451984-35452034	SK-N-SH	brain:	n/a
39	chr14:35515414-35515464	GM12891	blood:	n/a
40	chr14:35540926-35540976	A549	lung:	n/a
41	chr14:35452353-35452403	NB4	blood:	n/a
42	chr14:35451984-35452034	Hepatocyte	liver:	n/a
43	chr14:35540926-35540976	AG09319	gingival:	n/a
44	chr14:35452353-35452403	A549	lung:	n/a
45	chr14:35498490-35498540	HNPCEpiC	eye:	n/a
46	chr14:35452353-35452403	T-47D	breast:	n/a
47	chr14:35451914-35451964	HUVEC	blood vessel:	n/a
48	chr14:35452353-35452403	K562	blood:	n/a
49	chr14:35452353-35452403	AoSMC	blood vessel:	n/a
50	chr14:35452441-35452491	HNPCEpiC	eye:	n/a

(count:151 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr14:35450099..35453742-chr14:35513316..35517237,10	K562	blood:
2	chr14:35451287..35451881-chr19:3557480..3558017,2	Hela-S3	cervix:
3	chr14:35506932..35507762-chr3:185524185..185525086,2	MCF-7	breast:
4	chr14:35341867..35346512-chr14:35447191..35456965,26	MCF-7	breast:
5	chr14:35520110..35522080-chr14:35529783..35531632,2	MCF-7	breast:
6	chr14:35515655..35516294-chr7:100025920..100026511,2	Hela-S3	cervix:
7	chr14:35451366..35453471-chr14:35871625..35875238,3	MCF-7	breast:
8	chr14:35452096..35452608-chr5:38845624..38846439,2	Hela-S3	cervix:
9	chr14:35519075..35520594-chr14:35524910..35527892,2	MCF-7	breast:
10	chr14:35519987..35522404-chr14:35523498..35526576,3	K562	blood:
11	chr14:35568012..35571090-chr14:35873276..35876327,3	MCF-7	breast:
12	chr14:35509386..35510378-chr14:35891186..35892042,3	MCF-7	breast:
13	chr14:35516520..35518836-chr14:35536161..35537991,2	K562	blood:
14	chr14:35515362..35516342-chr16:11836358..11837096,2	Hela-S3	cervix:
15	chr14:35500902..35503626-chr14:35810015..35811675,2	MCF-7	breast:
16	chr14:35455186..35457809-chr14:35509575..35512529,2	K562	blood:
17	chr14:35514169..35519549-chr14:35872431..35877872,11	MCF-7	breast:
18	chr14:35508976..35512360-chr14:35513729..35517203,6	K562	blood:
19	chr14:35514347..35518167-chr14:35589018..35591815,3	K562	blood:
20	chr14:35505958..35507461-chr14:35513757..35515783,2	K562	blood:
21	chr14:35451762..35452508-chr19:18111810..18112416,2	Hela-S3	cervix:
22	chr1:201979282..201979938-chr14:35451253..35451757,2	Hela-S3	cervix:
23	chr14:35515365..35516134-chr15:65596788..65597492,2	Hela-S3	cervix:
24	chr14:35479120..35481576-chr14:35483868..35486347,2	MCF-7	breast:
25	chr14:35509919..35510459-chr14:35875894..35876731,2	MCF-7	breast:
26	chr14:35450596..35455465-chr14:35514082..35520003,7	MCF-7	breast:
27	chr14:35450376..35452323-chr14:35627573..35629639,2	K562	blood:
28	chr14:35513511..35517056-chr14:35517636..35522677,6	K562	blood:
29	chr14:35515994..35521853-chr14:35871391..35874738,9	MCF-7	breast:
30	chr14:35450146..35454994-chr14:35588530..35593322,8	MCF-7	breast:
31	chr14:35513562..35515919-chr14:35564977..35566594,2	MCF-7	breast:
32	chr14:35515559..35516081-chr3:127771292..127771801,2	Hela-S3	cervix:
33	chr14:35524936..35527808-chr14:35546522..35548065,2	MCF-7	breast:
34	chr11:62608378..62609108-chr14:35519776..35520391,2	Hela-S3	cervix:
35	chr14:35459374..35461110-chr8:86390877..86393712,2	MCF-7	breast:
36	chr14:35560221..35562617-chr14:35563701..35566461,3	MCF-7	breast:
37	chr14:35452133..35453716-chr14:35873041..35875070,2	K562	blood:
38	chr14:35405852..35407525-chr14:35456925..35458489,2	K562	blood:
39	chr14:35507467..35509940-chr14:35513836..35516152,2	MCF-7	breast:
40	chr14:35481674..35484183-chr14:35515641..35517435,2	MCF-7	breast:
41	chr14:35017275..35019117-chr14:35456494..35458889,2	MCF-7	breast:
42	chr14:35513511..35517056-chr14:35517636..35522677,6	K562	blood:
43	chr1:70819918..70820461-chr14:35515383..35516234,2	Hela-S3	cervix:
44	chr14:35565651..35568101-chr14:35571541..35574493,2	K562	blood:
45	chr14:35450245..35452169-chr14:35590215..35593362,3	MCF-7	breast:
46	chr14:35341141..35345954-chr14:35450498..35453739,11	K562	blood:
47	chr14:35449656..35453109-chr14:35514529..35517063,4	MCF-7	breast:
48	chr14:35451626..35452173-chr16:74734654..74735645,2	Hela-S3	cervix:
49	chr14:35008230..35010895-chr14:35516677..35519155,2	K562	blood:
50	chr14:35465599..35469103-chr14:35471087..35474391,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAZ1A-1	chr14:35449441-35452103	NONHSAT036355
2	lnc-RP11-173D9.3.1-1	chr14:35568882-35571935	ENSG00000247658
3	lnc-FAM177A1-2	chr14:35488172-35488564	NONHSAT036358
4	lnc-FAM177A1-2	chr14:35487835-35487971	NONHSAT036358

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	FAM177A1	hsa-miR-186-5p	chr14:35551034-35551055
2	FAM177A1	hsa-miR-155-5p	chr14:35551927-35551947
3	FAM177A1	hsa-miR-186-5p	chr14:35550483-35550504
4	FAM177A1	hsa-miR-124-3p	chr14:35552531-35552538
5	FAM177A1	hsa-miR-124-3p	chr14:35552521-35552538
6	FAM177A1	hsa-miR-142-3p	chr14:35551080-35551101

Variant related genes	Relation type
ENSG00000258704	TF binding region
PPP2R3C	TF binding region
SRP54	TF binding region
FAM177A1	TF binding region
ENSG00000258704	CpG island
PPP2R3C	CpG island
SRP54	CpG island
FAM177A1	CpG island
ENSG00000168404	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000234678	chromatin interactions
ENSG00000226200	chromatin interactions
ENSG00000110958	chromatin interactions
ENSG00000126804	chromatin interactions
ENSG00000097021	chromatin interactions
ENSG00000145623	chromatin interactions
ENSG00000258704	chromatin interactions
ENSG00000058262	chromatin interactions
ENSG00000185347	chromatin interactions
ENSG00000100906	chromatin interactions
ENSG00000089775	chromatin interactions
ENSG00000255302	chromatin interactions
ENSG00000100890	chromatin interactions
ENSG00000129518	chromatin interactions
ENSG00000115275	chromatin interactions
ENSG00000267231	chromatin interactions
ENSG00000100883	chromatin interactions
ENSG00000163435	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000198964	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000271746	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000161091	chromatin interactions
ENSG00000272626	chromatin interactions
ENSG00000158850	chromatin interactions
ENSG00000185634	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000066135	chromatin interactions
ENSG00000153066	chromatin interactions
ENSG00000100902	chromatin interactions
ENSG00000249740	chromatin interactions
ENSG00000258790	chromatin interactions
ENSG00000206588	chromatin interactions
ENSG00000092020	chromatin interactions
ENSG00000151327	chromatin interactions
ENSG00000259090	chromatin interactions
ENSG00000088888	chromatin interactions
ENSG00000235883	chromatin interactions
ENSG00000163393	chromatin interactions
ENSG00000118454	chromatin interactions
ENSG00000168246	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000198604	chromatin interactions
ENSG00000105643	chromatin interactions
ENSG00000258738	chromatin interactions
FNDC3A	miRNA target sites

Extended variants
information (count: 4671 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:4671 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs799486	chr14:35449467-35449468	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535064325	chr14:35449514-35449515	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
3	rs563628105	chr14:35449547-35449548	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
4	rs187763575	chr14:35449581-35449582	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
5	rs552857742	chr14:35449642-35449643	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs192234893	chr14:35449649-35449650	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs528693193	chr14:35449683-35449684	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs115880799	chr14:35449697-35449698	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
9	rs184823223	chr14:35449715-35449716	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
10	rs11849351	chr14:35449823-35449824	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
11	rs17102923	chr14:35449839-35449840	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs536229876	chr14:35449929-35449930	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
13	rs117693021	chr14:35450006-35450007	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
14	rs189297164	chr14:35450031-35450032	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
15	rs538528055	chr14:35450046-35450047	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
16	rs118008920	chr14:35450086-35450087	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
17	rs572139933	chr14:35450111-35450112	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
18	rs368264329	chr14:35450154-35450155	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
19	rs532980708	chr14:35450169-35450170	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
20	rs371047273	chr14:35450178-35450179	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
21	rs554745073	chr14:35450207-35450208	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
22	rs574627494	chr14:35450214-35450215	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
23	rs147431627	chr14:35450229-35450230	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
24	rs3759549	chr14:35450294-35450295	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs576832883	chr14:35450319-35450320	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
26	rs546142214	chr14:35450326-35450327	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
27	rs3759548	chr14:35450333-35450334	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs201703179	chr14:35450340-35450341	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
29	rs528672067	chr14:35450366-35450367	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
30	rs543713909	chr14:35450385-35450386	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
31	rs200825750	chr14:35450390-35450391	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
32	rs199544257	chr14:35450391-35450392	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
33	rs372520575	chr14:35450412-35450413	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
34	rs368590529	chr14:35450413-35450414	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
35	rs376564673	chr14:35450417-35450418	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
36	rs369376719	chr14:35450419-35450420	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
37	rs372012896	chr14:35450421-35450422	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
38	rs10129710	chr14:35450429-35450430	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
39	rs112699289	chr14:35450430-35450431	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
40	rs799487	chr14:35450431-35450432	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs59481700	chr14:35450432-35450433	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
42	rs181718298	chr14:35450441-35450442	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
43	rs112147056	chr14:35450451-35450452	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
44	rs149941717	chr14:35450453-35450454	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
45	rs569622426	chr14:35450461-35450462	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
46	rs77082851	chr14:35450507-35450508	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
47	rs76792873	chr14:35450508-35450509	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
48	rs78833042	chr14:35450509-35450510	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
49	rs76602932	chr14:35450511-35450512	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
50	rs145239607	chr14:35450543-35450544	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:4203 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35411800-35450000	Weak transcription	Brain Angular Gyrus	brain
2	chr14:35413400-35449600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:35418000-35450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:35418800-35449600	Weak transcription	Placenta	Placenta
5	chr14:35419600-35449600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:35419800-35449600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:35420000-35450000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:35420000-35450000	Weak transcription	Small Intestine	intestine
9	chr14:35420400-35450200	Weak transcription	Colon Smooth Muscle	Colon
10	chr14:35421200-35449600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:35421200-35449600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:35421800-35450600	Weak transcription	Esophagus	oesophagus
13	chr14:35422000-35450000	Weak transcription	Brain Substantia Nigra	brain
14	chr14:35423800-35450000	Weak transcription	Colonic Mucosa	Colon
15	chr14:35424000-35449600	Weak transcription	Brain Germinal Matrix	brain
16	chr14:35424000-35449600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:35425800-35450000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:35425800-35450000	Weak transcription	Right Ventricle	heart
19	chr14:35425800-35450600	Weak transcription	Ovary	ovary
20	chr14:35426000-35449600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:35426000-35449800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:35426000-35450000	Weak transcription	Lung	lung
23	chr14:35426000-35450200	Weak transcription	Aorta	Aorta
24	chr14:35426000-35450400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:35426000-35450800	Weak transcription	Gastric	stomach
26	chr14:35426200-35449600	Weak transcription	Fetal Brain Female	brain
27	chr14:35427200-35449800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:35427400-35450000	Weak transcription	Fetal Kidney	kidney
29	chr14:35427400-35450000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:35430000-35450200	Weak transcription	Stomach Mucosa	stomach
31	chr14:35435600-35449800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:35435800-35449600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:35435800-35450000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:35436000-35449600	Weak transcription	K562	blood
35	chr14:35436000-35449800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr14:35436200-35449600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:35436400-35450000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:35437600-35449800	Weak transcription	GM12878-XiMat	blood
39	chr14:35437600-35450000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr14:35437800-35449800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr14:35437800-35450000	Weak transcription	Adipose Nuclei	Adipose
42	chr14:35438000-35449600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:35438000-35450000	Weak transcription	Spleen	Spleen
44	chr14:35438400-35449600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:35438400-35449800	Weak transcription	Fetal Intestine Large	intestine
46	chr14:35438400-35450000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:35438600-35449600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr14:35438600-35449600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr14:35438600-35449800	Weak transcription	Fetal Lung	lung
50	chr14:35438600-35449800	Weak transcription	A549	lung

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