Variant report

Variant	nsv1523
Chromosome Location	chr15:45749900-45783825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:45749769-45751332	K562	blood:	n/a	n/a
2	ARID3A	chr15:45749772-45750771	HepG2	liver:	n/a	n/a
3	BACH1	chr15:45783411-45783426	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr15:45749801-45750479	GM12878	blood:	n/a	n/a
5	BHLHE40	chr15:45749822-45750359	K562	blood:	n/a	n/a
6	BHLHE40	chr15:45749816-45750355	HepG2	liver:	n/a	n/a
7	BRCA1	chr15:45750885-45751313	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr15:45750373-45750477	K562	blood:	n/a	n/a
9	CEBPB	chr15:45768672-45768871	HepG2	liver:	n/a	chr15:45768728-45768739
10	CHD1	chr15:45749835-45750369	GM12878	blood:	n/a	n/a
11	CHD2	chr15:45750332-45750532	K562	blood:	n/a	n/a
12	CTCF	chr15:45751080-45751230	GM12865	blood:	n/a	chr15:45751149-45751167 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45751154-45751162
13	CTCF	chr15:45751030-45751300	NHEK	skin:	n/a	chr15:45751149-45751167 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45751154-45751162
14	CTCF	chr15:45750173-45750448	Hela-S3	cervix:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
15	CTCF	chr15:45749880-45750030	HA-sp	spinal cord:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
16	CTCF	chr15:45750220-45750370	GM12870	blood:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
17	CTCF	chr15:45749825-45750060	GM13977	blood:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
18	CTCF	chr15:45750118-45750492	T-47D	breast:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
19	CTCF	chr15:45749880-45750030	GM06990	blood:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
20	CTCF	chr15:45750440-45750590	HCM	heart:	n/a	n/a
21	CTCF	chr15:45749860-45750010	HEEpiC	esophagus:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
22	CTCF	chr15:45749703-45750551	K562	blood:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
23	CTCF	chr15:45751020-45751170	A549	lung:	n/a	chr15:45751149-45751167 chr15:45751150-45751166 chr15:45751154-45751162
24	CTCF	chr15:45750151-45750479	GM12878	blood:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
25	CTCF	chr15:45750133-45750463	ECC-1	luminal epithelium:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
26	CTCF	chr15:45751033-45751264	GM13976	blood:	n/a	chr15:45751149-45751167 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45751154-45751162
27	CTCF	chr15:45751100-45751250	GM12870	blood:	n/a	chr15:45751149-45751167 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45751154-45751162
28	CTCF	chr15:45749765-45750483	ECC-1	luminal epithelium:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
29	CTCF	chr15:45750161-45750463	K562	blood:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
30	CTCF	chr15:45749860-45750010	Caco-2	colon:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
31	CTCF	chr15:45749880-45750030	HEEpiC	esophagus:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
32	CTCF	chr15:45751033-45751296	GM19240	blood:	n/a	chr15:45751149-45751167 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45751154-45751162
33	CTCF	chr15:45750240-45750390	SK-N-SH_RA	brain:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
34	CTCF	chr15:45749840-45749990	GM12875	blood:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
35	CTCF	chr15:45750987-45751309	Spleen_OC	spleen:	n/a	chr15:45751149-45751167 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45751154-45751162
36	CTCF	chr15:45751100-45751250	GM12878	blood:	n/a	chr15:45751149-45751167 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45751154-45751162
37	CTCF	chr15:45750240-45750390	HCT-116	colon:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
38	CTCF	chr15:45750240-45750390	HVMF	connective:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
39	CTCF	chr15:45750600-45750750	AG09309	skin:	n/a	n/a
40	CTCF	chr15:45750600-45750750	AG04449	skin:	n/a	n/a
41	CTCF	chr15:45773887-45773971	Lung_OC	lung:	n/a	n/a
42	CTCF	chr15:45749760-45749910	HFF-Myc	foreskin:	n/a	n/a
43	CTCF	chr15:45750260-45750410	AG04450	lung:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
44	CTCF	chr15:45750240-45750390	HPAF	blood vessel:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
45	CTCF	chr15:45751080-45751230	GM12867	blood:	n/a	chr15:45751149-45751167 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45751154-45751162
46	CTCF	chr15:45753641-45753644	GM19239	blood:	n/a	n/a
47	CTCF	chr15:45749860-45750010	BJ	skin:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
48	CTCF	chr15:45750948-45751322	K562	blood:	n/a	chr15:45751149-45751167 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45751154-45751162
49	CTCF	chr15:45751100-45751250	GM12871	blood:	n/a	chr15:45751149-45751167 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45751154-45751162
50	CTCF	chr15:45749820-45749970	HRE	kidney:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45777254-45777304	T-47D	breast:	n/a
2	chr15:45777254-45777304	Hela-S3	cervix:	n/a
3	chr15:45777254-45777304	HCM	heart:	n/a
4	chr15:45777254-45777304	LNCaP	prostate:	n/a
5	chr15:45777254-45777304	HepG2	liver:	n/a
6	chr15:45777254-45777304	NHBE	bronchial:	n/a
7	chr15:45777254-45777304	Caco-2	colon:	n/a
8	chr15:45777254-45777304	Hepatocyte	liver:	n/a
9	chr15:45777254-45777304	MCF-7	breast:	n/a
10	chr15:45777254-45777304	SAEC	small airway:	n/a
11	chr15:45777254-45777304	CMK	blood:	n/a
12	chr15:45777254-45777304	AG04450	lung:	fetal
13	chr15:45777254-45777304	AG10803	skin:	n/a
14	chr15:45777254-45777304	GM12891	blood:	n/a
15	chr15:45777254-45777304	NT2-D1	testis:	n/a
16	chr15:45777254-45777304	SKMC	muscle:	n/a
17	chr15:45777254-45777304	GM12892	blood:	n/a
18	chr15:45777254-45777304	HCF	heart:	n/a
19	chr15:45777254-45777304	HEEpiC	esophagus:	n/a
20	chr15:45777254-45777304	HRPEpiC	eye:	n/a
21	chr15:45777254-45777304	GM12878	blood:	n/a
22	chr15:45777254-45777304	PANC-1	pancreas:	n/a
23	chr15:45777254-45777304	A549	lung:	n/a
24	chr15:45777254-45777304	AoSMC	blood vessel:	n/a
25	chr15:45777254-45777304	BE2_C	brain:	n/a
26	chr15:45777254-45777304	RPTEC	kidney:	n/a
27	chr15:45777254-45777304	IMR90	lung:	fetal
28	chr15:45777254-45777304	HL-60	blood:	n/a
29	chr15:45777254-45777304	SK-N-SH_RA	brain:	n/a
30	chr15:45777254-45777304	HRCEpiC	kidney:	n/a
31	chr15:45777254-45777304	HMEC	breast:	n/a
32	chr15:45777254-45777304	BJ	skin:	n/a
33	chr15:45777254-45777304	NH-A	brain:	n/a
34	chr15:45777254-45777304	HCPEpiC	choroid plexus:	n/a
35	chr15:45777254-45777304	HRE	kidney:	n/a
36	chr15:45777254-45777304	H1-hESC	embryonic stem cell:	embryo
37	chr15:45777254-45777304	HEK293	kidney:	embryo
38	chr15:45777254-45777304	ovcar-3	ovarian:	n/a
39	chr15:45777254-45777304	HCT-116	colon:	n/a
40	chr15:45777254-45777304	NB4	blood:	n/a
41	chr15:45777254-45777304	GM19239	blood:	n/a
42	chr15:45777254-45777304	HUVEC	blood vessel:	n/a
43	chr15:45777254-45777304	U87	brain:	n/a
44	chr15:45777254-45777304	SK-N-MC	brain:	n/a
45	chr15:45777254-45777304	GM06990	blood:	n/a
46	chr15:45777254-45777304	AG04449	skin:	fetal
47	chr15:45777254-45777304	Jurkat	blood:	n/a
48	chr15:45777254-45777304	HPAEpiC	pulmonary alveolar:	n/a
49	chr15:45777254-45777304	ProgFib	skin:	n/a
50	chr15:45777254-45777304	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:45694335..45695966-chr15:45759644..45761765,2	K562	blood:
2	chr15:45755369..45757808-chr15:45760218..45761718,2	MCF-7	breast:
3	chr15:45722136..45723142-chr15:45749242..45750517,32	MCF-7	breast:
4	chr15:45755098..45758040-chr15:45759580..45761169,2	K562	blood:
5	chr15:45770928..45772641-chr15:45779670..45781462,2	K562	blood:
6	chr15:45749728..45751620-chr15:45879079..45880705,2	MCF-7	breast:
7	chr15:45749404..45751481-chr15:45878948..45881186,2	K562	blood:
8	chr15:45770928..45772641-chr15:45779670..45781462,2	K562	blood:
9	chr15:45471040..45471975-chr15:45749448..45750391,3	K562	blood:
10	chr15:45749872..45750821-chr15:45905552..45906324,3	MCF-7	breast:
11	chr15:45750656..45751581-chr15:45813573..45814784,3	K562	blood:
12	chr15:45497043..45498021-chr15:45749432..45750263,4	K562	blood:
13	chr15:45751814..45754507-chr15:45754851..45757690,2	MCF-7	breast:
14	chr15:45455299..45455941-chr15:45749596..45750400,4	K562	blood:
15	chr15:45751428..45753580-chr15:45925996..45928453,2	MCF-7	breast:
16	chr15:45750690..45751653-chr15:45878681..45879387,2	Hela-S3	cervix:
17	chr15:45778786..45780311-chr15:45786816..45789298,2	K562	blood:
18	chr15:45693234..45695210-chr15:45748321..45750226,2	MCF-7	breast:
19	chr15:45598944..45599924-chr15:45749735..45750683,4	K562	blood:
20	chr15:45751814..45754507-chr15:45754851..45757690,2	MCF-7	breast:
21	chr15:45755098..45758040-chr15:45759580..45761169,2	K562	blood:
22	chr15:45724921..45725750-chr15:45749427..45750406,2	K562	blood:
23	chr15:45723297..45724086-chr15:45749264..45750136,2	MCF-7	breast:
24	chr15:45722040..45723226-chr15:45748321..45751272,60	MCF-7	breast:
25	chr15:45459360..45460864-chr15:45748404..45750669,2	K562	blood:
26	chr15:45750236..45753171-chr15:45878645..45880450,2	MCF-7	breast:
27	chr15:45755369..45757808-chr15:45760218..45761718,2	MCF-7	breast:
28	chr15:45749984..45752684-chr15:45764466..45766586,2	MCF-7	breast:
29	chr15:45457607..45459113-chr15:45748789..45750442,2	K562	blood:
30	chr15:45721836..45723115-chr15:45748925..45751188,14	K562	blood:
31	chr15:45721027..45721855-chr15:45749205..45750034,2	MCF-7	breast:
32	chr15:45737247..45739664-chr15:45747415..45750054,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf48-1	chr15:45752644-45752767	ENSG00000259354.1
2	lnc-C15orf48-1	chr15:45768600-45768750	ENSG00000259354.1
3	lnc-C15orf48-1	chr15:45768277-45768507	ENSG00000259354.1
4	lnc-C15orf48-1	chr15:45768600-45768750	XLOC_011237
5	lnc-C15orf48-1	chr15:45752644-45753154	ENSG00000259354.1
6	lnc-C15orf48-1	chr15:45768277-45768507	XLOC_011237
7	lnc-GATM-5	chr15:45771811-45773663	NONHSAT042257
8	lnc-C15orf48-1	chr15:45768277-45768507	ENSG00000259354.1
9	lnc-C15orf48-1	chr15:45768600-45768750	ENSG00000259354.1
10	lnc-C15orf48-1	chr15:45769967-45771942	XLOC_011237
11	lnc-C15orf48-1	chr15:45768277-45768507	ENSG00000259354.1
12	lnc-C15orf48-1	chr15:45753477-45753588	ENSG00000259354.1
13	lnc-C15orf48-1	chr15:45768600-45768750	ENSG00000259354.1
14	lnc-C15orf48-1	chr15:45751208-45751248	ENSG00000259354.1
15	lnc-C15orf48-1	chr15:45769967-45771942	ENSG00000259354.1

Variant related genes	Relation type
ENSG00000259354	TF binding region
ENSG00000259354	CpG island
ENSG00000260170	chromatin interactions
ENSG00000259539	chromatin interactions
ENSG00000171766	chromatin interactions
ENSG00000252285	chromatin interactions
ENSG00000179362	chromatin interactions
ENSG00000104164	chromatin interactions
ENSG00000211519	chromatin interactions
ENSG00000137767	chromatin interactions
ENSG00000259354	chromatin interactions
ENSG00000171763	chromatin interactions
ENSG00000166920	chromatin interactions
ENSG00000104154	chromatin interactions

Extended variants
information (count: 1202 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1202 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553191231	chr15:45749915-45749916	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs1153834	chr15:45749917-45749918	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561763241	chr15:45749932-45749933	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs530414741	chr15:45749939-45749940	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs547321211	chr15:45749989-45749990	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs567030187	chr15:45750042-45750043	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs532769322	chr15:45750068-45750069	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs180766317	chr15:45750110-45750111	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs534309767	chr15:45750141-45750142	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs569232882	chr15:45750163-45750164	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs535910363	chr15:45750169-45750170	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs554659310	chr15:45750195-45750196	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs568490737	chr15:45750211-45750212	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs538317130	chr15:45750254-45750255	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs533793604	chr15:45750270-45750271	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs568572385	chr15:45750337-45750338	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs138056716	chr15:45750346-45750347	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs184764518	chr15:45750360-45750361	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs552920256	chr15:45750382-45750383	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs556356022	chr15:45750394-45750395	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs535445141	chr15:45750415-45750416	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs557345543	chr15:45750497-45750498	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs575484410	chr15:45750526-45750527	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs573000595	chr15:45750585-45750586	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs189169859	chr15:45750624-45750625	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs561479152	chr15:45750669-45750670	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs149532706	chr15:45750678-45750679	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs540895949	chr15:45750682-45750683	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs560790745	chr15:45750688-45750689	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs117029476	chr15:45750702-45750703	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs552482418	chr15:45750709-45750710	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs569477896	chr15:45750730-45750731	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs531711881	chr15:45750734-45750735	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs181564069	chr15:45750738-45750739	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs147226982	chr15:45750833-45750834	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs564936133	chr15:45750887-45750888	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs553775901	chr15:45750947-45750948	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs570396097	chr15:45750958-45750959	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs1834689	chr15:45750959-45750960	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556080618	chr15:45750994-45750995	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs576188399	chr15:45751058-45751059	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs535162131	chr15:45751123-45751124	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs555456280	chr15:45751124-45751125	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs186048454	chr15:45751192-45751193	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs370870441	chr15:45751201-45751202	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs572044805	chr15:45751203-45751204	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs541006570	chr15:45751220-45751221	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
48	rs1834690	chr15:45751235-45751236	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
49	rs564107030	chr15:45751263-45751264	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs577605224	chr15:45751273-45751274	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45746000-45750000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:45746000-45750000	Enhancers	Stomach Mucosa	stomach
3	chr15:45746200-45750000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr15:45746200-45750000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:45746200-45750000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:45746200-45750000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr15:45746200-45750800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr15:45746400-45750000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr15:45746400-45750000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:45746400-45750000	Enhancers	Placenta	Placenta
11	chr15:45746600-45750000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr15:45746600-45750000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:45746600-45750000	Enhancers	HSMM	muscle
14	chr15:45746800-45750000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:45746800-45750000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:45746800-45750000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:45746800-45750000	Enhancers	NHDF-Ad	bronchial
18	chr15:45746800-45750400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:45747000-45750000	Weak transcription	Fetal Heart	heart
20	chr15:45747200-45750000	Enhancers	NHLF	lung
21	chr15:45747600-45750000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:45747600-45750000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr15:45747600-45750000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr15:45747600-45750000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr15:45747800-45750000	Enhancers	Primary B cells from peripheral blood	blood
26	chr15:45747800-45750000	Weak transcription	Adipose Nuclei	Adipose
27	chr15:45748400-45750000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:45748400-45750000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:45748400-45750800	Flanking Active TSS	Hela-S3	cervix
30	chr15:45748600-45750000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:45748600-45750000	Enhancers	Colon Smooth Muscle	Colon
32	chr15:45748600-45750000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr15:45748600-45750200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:45749000-45750000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:45749000-45750000	Enhancers	Fetal Intestine Large	intestine
36	chr15:45749000-45750200	Weak transcription	Pancreas	Pancrea
37	chr15:45749000-45750800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr15:45749000-45751000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:45749200-45750000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:45749200-45750000	Weak transcription	Fetal Muscle Leg	muscle
41	chr15:45749200-45750000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr15:45749200-45750000	Weak transcription	HSMMtube	muscle
43	chr15:45749200-45750400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr15:45749200-45751000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr15:45749200-45751800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:45749200-45753200	Weak transcription	Gastric	stomach
47	chr15:45749400-45750000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:45749400-45750000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr15:45749400-45750000	Enhancers	A549	lung
50	chr15:45749400-45750000	Enhancers	HepG2	liver

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