Variant report

Variant	nsv1031928
Chromosome Location	chr5:180115817-180216254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:740)
CpG islands
(count:490)
Chromatin interactive
region (count:45)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:740 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180212570-180213141	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr5:180144959-180145359	GM12878	blood:	n/a	n/a
3	ATF2	chr5:180212679-180213244	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr5:180169789-180169977	GM12878	blood:	n/a	n/a
5	BATF	chr5:180145061-180145379	GM12878	blood:	n/a	chr5:180145207-180145218
6	BATF	chr5:180145040-180145312	GM12878	blood:	n/a	chr5:180145207-180145218
7	BCL11A	chr5:180145100-180145299	GM12878	blood:	n/a	chr5:180145235-180145244
8	BCL11A	chr5:180145000-180145348	GM12878	blood:	n/a	chr5:180145235-180145244
9	CBX3	chr5:180208858-180209504	K562	blood:	n/a	n/a
10	CBX3	chr5:180208965-180209392	K562	blood:	n/a	n/a
11	CBX3	chr5:180127492-180127736	K562	blood:	n/a	n/a
12	CBX3	chr5:180215613-180215981	K562	blood:	n/a	n/a
13	CBX3	chr5:180198766-180199290	K562	blood:	n/a	n/a
14	CBX3	chr5:180198844-180199194	K562	blood:	n/a	n/a
15	CEBPB	chr5:180209005-180209250	K562	blood:	n/a	n/a
16	CEBPB	chr5:180208882-180209430	K562	blood:	n/a	n/a
17	CEBPB	chr5:180131341-180131657	K562	blood:	n/a	n/a
18	CEBPD	chr5:180208780-180209396	K562	blood:	n/a	n/a
19	CEBPD	chr5:180208777-180209303	K562	blood:	n/a	n/a
20	CEBPD	chr5:180131384-180131803	K562	blood:	n/a	n/a
21	CREB1	chr5:180144917-180145413	GM12878	blood:	n/a	n/a
22	CREB1	chr5:180144836-180145451	GM12878	blood:	n/a	n/a
23	CTCF	chr5:180145880-180146030	BE2_C	brain:	n/a	n/a
24	CTCF	chr5:180211600-180211750	HCPEpiC	choroid plexus:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
25	CTCF	chr5:180211620-180211770	AG09319	gingival:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
26	CTCF	chr5:180145820-180145970	HCT-116	colon:	n/a	n/a
27	CTCF	chr5:180145688-180146062	K562	blood:	n/a	n/a
28	CTCF	chr5:180145840-180145990	GM12873	blood:	n/a	n/a
29	CTCF	chr5:180212400-180212550	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr5:180146220-180146234	K562	blood:	n/a	n/a
31	CTCF	chr5:180211540-180211690	HAc	cerebellar:	n/a	n/a
32	CTCF	chr5:180146140-180146290	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr5:180145858-180145965	GM19239	blood:	n/a	n/a
34	CTCF	chr5:180211580-180211730	HFF-Myc	foreskin:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
35	CTCF	chr5:180145796-180146008	HepG2	liver:	n/a	n/a
36	CTCF	chr5:180145800-180145950	HAc	cerebellar:	n/a	n/a
37	CTCF	chr5:180146520-180146670	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr5:180211620-180211770	HEEpiC	esophagus:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
39	CTCF	chr5:180145860-180146010	HMEC	breast:	n/a	n/a
40	CTCF	chr5:180145800-180145950	HMF	breast:	n/a	n/a
41	CTCF	chr5:180211640-180211790	HCT-116	colon:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
42	CTCF	chr5:180145860-180146010	GM12867	blood:	n/a	n/a
43	CTCF	chr5:180145843-180146006	A549	lung:	n/a	n/a
44	CTCF	chr5:180146180-180146330	BJ	skin:	n/a	n/a
45	CTCF	chr5:180145790-180146025	LNCaP	prostate:	n/a	n/a
46	CTCF	chr5:180145820-180145970	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr5:180211580-180211730	HEK293	kidney:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
48	CTCF	chr5:180211620-180211770	AG04450	lung:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
49	CTCF	chr5:180146180-180146330	GM12878	blood:	n/a	n/a
50	CTCF	chr5:180145840-180145990	AG09319	gingival:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180166492-180166542	U87	brain:	n/a
2	chr5:180166694-180166744	MCF-7	breast:	n/a
3	chr5:180166492-180166542	U87	brain:	n/a
4	chr5:180166694-180166744	MCF-7	breast:	n/a
5	chr5:180166694-180166744	GM19239	blood:	n/a
6	chr5:180166492-180166542	AG10803	skin:	n/a
7	chr5:180167965-180168015	HNPCEpiC	eye:	n/a
8	chr5:180167566-180167616	CMK	blood:	n/a
9	chr5:180166694-180166744	SKMC	muscle:	n/a
10	chr5:180167724-180167774	AG09319	gingival:	n/a
11	chr5:180167724-180167774	HL-60	blood:	n/a
12	chr5:180116385-180116435	Hepatocyte	liver:	n/a
13	chr5:180167965-180168015	CMK	blood:	n/a
14	chr5:180167566-180167616	GM12891	blood:	n/a
15	chr5:180167566-180167616	SAEC	small airway:	n/a
16	chr5:180167965-180168015	GM12891	blood:	n/a
17	chr5:180167965-180168015	HCF	heart:	n/a
18	chr5:180213189-180213239	NH-A	brain:	n/a
19	chr5:180167965-180168015	AG09309	skin:	n/a
20	chr5:180167965-180168015	SK-N-SH_RA	brain:	n/a
21	chr5:180213189-180213239	NB4	blood:	n/a
22	chr5:180116385-180116435	HepG2	liver:	n/a
23	chr5:180166694-180166744	HL-60	blood:	n/a
24	chr5:180167566-180167616	Hela-S3	cervix:	n/a
25	chr5:180213189-180213239	GM12891	blood:	n/a
26	chr5:180166694-180166744	LNCaP	prostate:	n/a
27	chr5:180167965-180168015	GM06990	blood:	n/a
28	chr5:180166492-180166542	PFSK-1	brain:	n/a
29	chr5:180167566-180167616	U87	brain:	n/a
30	chr5:180167132-180167182	GM12878	blood:	n/a
31	chr5:180167132-180167182	HIPEpiC	eye:	n/a
32	chr5:180166694-180166744	PFSK-1	brain:	n/a
33	chr5:180116385-180116435	HCT-116	colon:	n/a
34	chr5:180213189-180213239	U87	brain:	n/a
35	chr5:180213189-180213239	Jurkat	blood:	n/a
36	chr5:180166492-180166542	NHBE	bronchial:	n/a
37	chr5:180167965-180168015	HPAEpiC	pulmonary alveolar:	n/a
38	chr5:180116385-180116435	LNCaP	prostate:	n/a
39	chr5:180167566-180167616	HCM	heart:	n/a
40	chr5:180167965-180168015	HRCEpiC	kidney:	n/a
41	chr5:180166492-180166542	SK-N-MC	brain:	n/a
42	chr5:180116385-180116435	HUVEC	blood vessel:	n/a
43	chr5:180167965-180168015	NHBE	bronchial:	n/a
44	chr5:180166492-180166542	AG04449	skin:	fetal
45	chr5:180167965-180168015	AoSMC	blood vessel:	n/a
46	chr5:180167566-180167616	Hepatocyte	liver:	n/a
47	chr5:180166694-180166744	AG04449	skin:	fetal
48	chr5:180167132-180167182	AoSMC	blood vessel:	n/a
49	chr5:180213189-180213239	IMR90	lung:	fetal
50	chr5:180116385-180116435	HEK293	kidney:	embryo

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:180153993..180156519-chr5:180159947..180161759,2	K562	blood:
2	chr5:180210430..180214631-chr5:180286463..180290673,6	MCF-7	breast:
3	chr5:180130605..180132994-chr5:180134010..180136773,2	MCF-7	breast:
4	chr5:180202113..180204208-chr5:180208493..180210882,2	K562	blood:
5	chr5:180168390..180170515-chr5:180204872..180207367,2	K562	blood:
6	chr5:180211375..180212214-chr5:180226180..180226854,2	MCF-7	breast:
7	chr5:180171538..180174150-chr5:180179388..180180987,2	K562	blood:
8	chr5:180211281..180211887-chr5:180586366..180586939,2	MCF-7	breast:
9	chr5:180207548..180210211-chr5:180589188..180591545,3	K562	blood:
10	chr5:180211185..180212156-chr5:180225940..180226892,9	MCF-7	breast:
11	chr5:180147687..180149481-chr5:180151717..180153867,2	K562	blood:
12	chr5:180208714..180211702-chr5:180212096..180213803,2	K562	blood:
13	chr5:180209019..180210957-chr5:180453882..180456380,2	K562	blood:
14	chr5:180037911..180038640-chr5:180145288..180145999,2	MCF-7	breast:
15	chr5:180168086..180169925-chr5:180190599..180192805,2	K562	blood:
16	chr5:180158275..180159905-chr5:180163258..180165205,2	K562	blood:
17	chr5:180147687..180149481-chr5:180151717..180153867,2	K562	blood:
18	chr5:180208930..180211085-chr5:180226767..180229407,2	K562	blood:
19	chr5:180168086..180169925-chr5:180190599..180192805,2	K562	blood:
20	chr5:180114639..180117305-chr5:180118582..180121501,2	MCF-7	breast:
21	chr5:180211640..180213961-chr5:180214094..180219248,5	K562	blood:
22	chr5:180210073..180212750-chr5:180649135..180651698,2	MCF-7	breast:
23	chr5:180136617..180138276-chr5:180153652..180155749,2	K562	blood:
24	chr5:180207628..180210924-chr5:180228309..180230947,5	MCF-7	breast:
25	chr5:180170663..180173512-chr5:180175093..180176860,2	K562	blood:
26	chr5:180048663..180050730-chr5:180113911..180116171,2	K562	blood:
27	chr5:180171538..180174150-chr5:180179388..180180987,2	K562	blood:
28	chr5:180172009..180174376-chr5:180240608..180243076,2	MCF-7	breast:
29	chr5:180202113..180204208-chr5:180208493..180210882,2	K562	blood:
30	chr5:180143140..180144948-chr5:180229622..180231793,2	K562	blood:
31	chr5:180168390..180170515-chr5:180204872..180207367,2	K562	blood:
32	chr5:180202321..180205166-chr5:180643152..180645917,2	K562	blood:
33	chr5:180136617..180138276-chr5:180153652..180155749,2	K562	blood:
34	chr5:180170663..180173512-chr5:180175093..180176860,2	K562	blood:
35	chr5:180097643..180098351-chr5:180145367..180146387,3	MCF-7	breast:
36	chr5:180146148..180147851-chr5:180235768..180238086,2	K562	blood:
37	chr5:180113673..180116367-chr5:180119581..180121156,3	K562	blood:
38	chr5:179919075..179921338-chr5:180210769..180213087,2	MCF-7	breast:
39	chr5:180208714..180211260-chr5:180212096..180214924,3	K562	blood:
40	chr5:180158275..180159905-chr5:180163258..180165205,2	K562	blood:
41	chr5:180212092..180214294-chr5:180453988..180456472,2	K562	blood:
42	chr5:180153993..180156519-chr5:180159947..180161759,2	K562	blood:
43	chr5:180208714..180211702-chr5:180212096..180213803,2	K562	blood:
44	chr5:180130605..180132994-chr5:180134010..180136773,2	MCF-7	breast:
45	chr5:180154735..180156600-chr5:180159240..180161653,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR2Y1-2	chr5:180189565-180191201	ucscGeneNc_uc003mmj_1
2	lnc-OR2Y1-1	chr5:180155280-180155484	expReg_chr5_11028_-
3	lnc-BTNL8-8	chr5:180190563-180190835	ucscGeneNc_uc003mmk_2
4	lnc-BTNL8-8	chr5:180192279-180192466	ucscGeneNc_uc003mmk_2
5	lnc-BTNL8-8	chr5:180193918-180195284	ucscGeneNc_uc003mmk_2

No data

Variant related genes	Relation type
OR2AI1P	TF binding region
RNU1-17P	TF binding region
ENSG00000260841	TF binding region
OR2Y1	TF binding region
OR2AI1P	CpG island
RNU1-17P	CpG island
ENSG00000260841	CpG island
OR2Y1	CpG island
ENSG00000236791	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000199892	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000196670	chromatin interactions

Extended variants
information (count: 2485 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:2485 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11249743	chr5:180115817-180115818	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556194766	chr5:180115818-180115819	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555399879	chr5:180115823-180115824	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34094898	chr5:180115954-180115955	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572150176	chr5:180115956-180115957	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534785785	chr5:180115978-180115979	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557781021	chr5:180116024-180116025	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186095452	chr5:180116049-180116050	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188901434	chr5:180116096-180116097	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569904799	chr5:180116156-180116157	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543293048	chr5:180116173-180116174	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563391723	chr5:180116182-180116183	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs115215277	chr5:180116186-180116187	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs117155781	chr5:180116196-180116197	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145971746	chr5:180116207-180116208	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528702292	chr5:180116216-180116217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530379058	chr5:180116226-180116227	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565464039	chr5:180116238-180116239	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs17080471	chr5:180116271-180116272	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567284880	chr5:180116326-180116327	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142186041	chr5:180116340-180116341	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181395014	chr5:180116343-180116344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs569678386	chr5:180116362-180116363	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs113124531	chr5:180116363-180116364	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs75949195	chr5:180116381-180116382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185685035	chr5:180116385-180116386	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548824533	chr5:180116387-180116388	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565732074	chr5:180116407-180116408	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534403117	chr5:180116422-180116423	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs557958774	chr5:180116427-180116428	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11738824	chr5:180116433-180116434	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535240563	chr5:180116439-180116440	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567038111	chr5:180116544-180116545	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs73349276	chr5:180116557-180116558	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs71613478	chr5:180116636-180116637	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138582747	chr5:180116659-180116660	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573704166	chr5:180116662-180116663	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs376317293	chr5:180116672-180116673	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542979522	chr5:180116703-180116704	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs141464201	chr5:180116731-180116732	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553207522	chr5:180116766-180116767	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539352573	chr5:180116785-180116786	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370070836	chr5:180116789-180116790	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111331769	chr5:180116796-180116797	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545151620	chr5:180116812-180116813	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565518045	chr5:180116821-180116822	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs117327996	chr5:180116829-180116830	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs3852150	chr5:180116840-180116841	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs561536514	chr5:180116872-180116873	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs4074596	chr5:180116874-180116875	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	17440070	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:654 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180109600-180116200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:180109800-180116000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr5:180110800-180116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:180112200-180119400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:180114000-180116200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr5:180114400-180116200	Weak transcription	Pancreas	Pancrea
7	chr5:180114600-180118400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:180115000-180117000	Flanking Active TSS	Dnd41	blood
9	chr5:180115200-180116000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:180115400-180117000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:180115400-180117000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:180115400-180117000	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:180115400-180117200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:180115400-180117200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr5:180115600-180116000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:180115600-180116200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr5:180115600-180116200	Active TSS	Fetal Thymus	thymus
18	chr5:180115600-180116400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:180115600-180116600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:180115600-180116600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr5:180115600-180116800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:180115600-180116800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr5:180115600-180116800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:180115600-180117000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:180115600-180117000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr5:180115600-180117400	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr5:180115600-180117800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:180115600-180118000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:180115800-180116000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr5:180115800-180116400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr5:180115800-180116400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr5:180115800-180116600	Bivalent Enhancer	Fetal Lung	lung
33	chr5:180115800-180117000	Active TSS	Thymus	Thymus
34	chr5:180115800-180117200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr5:180115800-180117600	Enhancers	Fetal Stomach	stomach
36	chr5:180116000-180116200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr5:180116000-180116400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:180116000-180116600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:180116000-180116600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:180116000-180117400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr5:180116000-180118000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:180116200-180116400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr5:180116200-180116400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr5:180116200-180116400	Enhancers	Pancreas	Pancrea
45	chr5:180116200-180116400	Bivalent Enhancer	HSMM	muscle
46	chr5:180116200-180116600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:180116200-180116600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr5:180116200-180116600	Bivalent Enhancer	Fetal Kidney	kidney
49	chr5:180116200-180117000	Flanking Active TSS	Fetal Thymus	thymus
50	chr5:180116400-180116600	Weak transcription	Pancreas	Pancrea

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