Variant report

Variant	rs16945819
Chromosome Location	chr16:48151363-48151364
allele	C/T
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	ELF1	chr16:48151362-48151694	K562	blood:	n/a	n/a
2	CTCF	chr16:48151353-48151870	HCT-116	colon:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
3	CTCF	chr16:48151119-48152473	A549	lung:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
4	CEBPB	chr16:48151359-48151726	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr16:48151178-48151947	A549	lung:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700 chr16:48151295-48151308
6	YY1	chr16:48151325-48151686	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr16:48151000-48152004	SK-N-SH	brain:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700 chr16:48151295-48151308
8	MAZ	chr16:48151169-48151904	IMR90	lung:	n/a	n/a
9	CTCF	chr16:48151285-48151945	K562	blood:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
10	SMC3	chr16:48151359-48151793	GM12878	blood:	n/a	chr16:48151685-48151699 chr16:48151548-48151558 chr16:48151548-48151562
11	RAD21	chr16:48151360-48151811	HepG2	liver:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700
12	RAD21	chr16:48151362-48151815	IMR90	lung:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700
13	CTCF	chr16:48151244-48151953	HCT-116	colon:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
14	ELF1	chr16:48151148-48151772	GM12878	blood:	n/a	n/a
15	RAD21	chr16:48151293-48151836	H1-hESC	embryonic stem cell:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700 chr16:48151295-48151308
16	SMC3	chr16:48151346-48151800	K562	blood:	n/a	chr16:48151685-48151699 chr16:48151548-48151558 chr16:48151548-48151562
17	RAD21	chr16:48151304-48151896	A549	lung:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700
18	RAD21	chr16:48151324-48151775	GM12878	blood:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700
19	JUND	chr16:48151362-48151731	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr16:48151041-48152050	SK-N-SH	brain:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
21	RAD21	chr16:48151217-48151893	H1-hESC	embryonic stem cell:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700 chr16:48151295-48151308
22	RAD21	chr16:48151319-48151803	MCF-7	breast:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700
23	RAD21	chr16:48151322-48151836	SK-N-SH_RA	brain:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700
24	ZBTB7A	chr16:48151352-48151790	ECC-1	luminal epithelium:	n/a	n/a
25	BCLAF1	chr16:48151354-48151769	GM12878	blood:	n/a	n/a
26	FOXM1	chr16:48151351-48151817	GM12878	blood:	n/a	n/a
27	CTCF	chr16:48151291-48151856	HepG2	liver:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
28	CTCF	chr16:48151279-48151792	H1-hESC	embryonic stem cell:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
29	CTCF	chr16:48151283-48151817	H1-hESC	embryonic stem cell:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
30	GABPA	chr16:48151324-48151723	K562	blood:	n/a	n/a
31	RAD21	chr16:48151275-48151837	HCT-116	colon:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700 chr16:48151295-48151308
32	CTCF	chr16:48151363-48151834	IMR90	lung:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
33	ZBTB7A	chr16:48151330-48151821	ECC-1	luminal epithelium:	n/a	n/a
34	STAT5A	chr16:48151318-48151735	GM12878	blood:	n/a	n/a
35	RAD21	chr16:48151299-48151884	HCT-116	colon:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700
36	RAD21	chr16:48151352-48151715	SK-N-SH_RA	brain:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700
37	CTCF	chr16:48151324-48151808	HepG2	liver:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
38	RAD21	chr16:48151287-48151763	HepG2	liver:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700 chr16:48151295-48151308
39	CTCF	chr16:48151349-48151824	GM12878	blood:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
40	RAD21	chr16:48151356-48151857	ECC-1	luminal epithelium:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700
41	EP300	chr16:48151266-48151705	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr16:48151259-48151944	MCF-7	breast:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
43	SMC3	chr16:48151132-48152038	SK-N-SH	brain:	n/a	chr16:48151685-48151699 chr16:48151548-48151558 chr16:48151548-48151562
44	CTCF	chr16:48151311-48151801	A549	lung:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
45	CTCF	chr16:48151292-48151910	K562	blood:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
46	CTCF	chr16:48151356-48151831	MCF-7	breast:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
47	FOXM1	chr16:48151316-48151838	GM12878	blood:	n/a	n/a
48	RAD21	chr16:48151264-48151826	H1-hESC	embryonic stem cell:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700 chr16:48151295-48151308
49	CTCF	chr16:48151333-48151846	K562	blood:	n/a	chr16:48151548-48151561 chr16:48151547-48151563 chr16:48151553-48151561 chr16:48151548-48151561 chr16:48151546-48151564 chr16:48151541-48151562 chr16:48151686-48151699
50	RAD21	chr16:48151252-48151799	MCF-7	breast:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700 chr16:48151295-48151308

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:48151319-48151369	MCF-7	breast:	n/a
2	chr16:48151319-48151369	NB4	blood:	n/a
3	chr16:48151319-48151369	AG04450	lung:	fetal
4	chr16:48151319-48151369	AG09319	gingival:	n/a
5	chr16:48151319-48151369	AG04449	skin:	fetal
6	chr16:48151319-48151369	HCF	heart:	n/a
7	chr16:48151319-48151369	HRCEpiC	kidney:	n/a
8	chr16:48151319-48151369	ovcar-3	ovarian:	n/a
9	chr16:48151319-48151369	Hepatocyte	liver:	n/a
10	chr16:48151319-48151369	HL-60	blood:	n/a
11	chr16:48151319-48151369	HCM	heart:	n/a
12	chr16:48151319-48151369	T-47D	breast:	n/a
13	chr16:48151319-48151369	GM06990	blood:	n/a
14	chr16:48151319-48151369	HRPEpiC	eye:	n/a
15	chr16:48151319-48151369	K562	blood:	n/a
16	chr16:48151319-48151369	ProgFib	skin:	n/a
17	chr16:48151319-48151369	HAEpiC	amniotic membrane:	n/a
18	chr16:48151319-48151369	LNCaP	prostate:	n/a
19	chr16:48151319-48151369	HRE	kidney:	n/a
20	chr16:48151319-48151369	AoSMC	blood vessel:	n/a
21	chr16:48151319-48151369	PrEC	prostate:	n/a
22	chr16:48151319-48151369	NHDF-neo	bronchial:	n/a
23	chr16:48151319-48151369	SK-N-MC	brain:	n/a
24	chr16:48151319-48151369	NHBE	bronchial:	n/a
25	chr16:48151319-48151369	GM19239	blood:	n/a
26	chr16:48151319-48151369	CMK	blood:	n/a
27	chr16:48151319-48151369	HNPCEpiC	eye:	n/a
28	chr16:48151319-48151369	BE2_C	brain:	n/a
29	chr16:48151319-48151369	ECC-1	luminal epithelium:	n/a
30	chr16:48151319-48151369	GM12878	blood:	n/a
31	chr16:48151319-48151369	HMEC	breast:	n/a
32	chr16:48151319-48151369	SAEC	small airway:	n/a
33	chr16:48151319-48151369	SK-N-SH_RA	brain:	n/a
34	chr16:48151319-48151369	Caco-2	colon:	n/a
35	chr16:48151319-48151369	HPAEpiC	pulmonary alveolar:	n/a
36	chr16:48151319-48151369	NH-A	brain:	n/a
37	chr16:48151319-48151369	GM12892	blood:	n/a
38	chr16:48151319-48151369	AG09309	skin:	n/a
39	chr16:48151319-48151369	HIPEpiC	eye:	n/a
40	chr16:48151319-48151369	BJ	skin:	n/a
41	chr16:48151319-48151369	HEK293	kidney:	embryo
42	chr16:48151319-48151369	IMR90	lung:	fetal
43	chr16:48151319-48151369	SKMC	muscle:	n/a
44	chr16:48151319-48151369	Jurkat	blood:	n/a
45	chr16:48151319-48151369	PFSK-1	brain:	n/a
46	chr16:48151319-48151369	MCF10A-Er-Src	breast:	n/a
47	chr16:48151319-48151369	U87	brain:	n/a
48	chr16:48151319-48151369	NT2-D1	testis:	n/a
49	chr16:48151319-48151369	HepG2	liver:	n/a
50	chr16:48151319-48151369	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:47071556..47072334-chr16:48151095..48151940,2	K562	blood:
2	chr16:48151208..48152156-chr16:48190003..48191037,5	MCF-7	breast:
3	chr16:48151213..48152149-chr16:48190361..48191030,3	K562	blood:
4	chr16:46981810..46982328-chr16:48151170..48152007,2	K562	blood:
5	chr16:48151282..48152129-chr16:48198404..48199139,3	MCF-7	breast:
6	chr11:66383462..66384208-chr16:48151167..48151823,2	HCT-116	colon:
7	chr16:47238697..47239501-chr16:48151319..48151975,2	MCF-7	breast:
8	chr16:48151128..48152237-chr16:48190393..48191453,6	MCF-7	breast:

Variant related genes	Relation type
ABCC12	TF binding region
ABCC12	CpG island
ENSG00000239306	Chromatin interaction
ENSG00000248643	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11861448	1.00[EUR][1000 genomes]
rs11864016	1.00[EUR][1000 genomes]
rs11864570	1.00[EUR][1000 genomes]
rs12103132	1.00[EUR][1000 genomes]
rs13330281	1.00[EUR][1000 genomes]
rs13330882	1.00[EUR][1000 genomes]
rs13331266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13333718	1.00[EUR][1000 genomes]
rs13334423	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13334475	1.00[EUR][1000 genomes]
rs13335010	1.00[EUR][1000 genomes]
rs1345425	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945786	1.00[EUR][1000 genomes]
rs16945813	1.00[EUR][1000 genomes]
rs16945816	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945824	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945828	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945831	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945835	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945860	1.00[EUR][1000 genomes]
rs2016940	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28431782	1.00[EUR][1000 genomes]
rs28526661	1.00[EUR][1000 genomes]
rs28531369	1.00[EUR][1000 genomes]
rs28587611	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28592871	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28669266	1.00[EUR][1000 genomes]
rs34106426	1.00[EUR][1000 genomes]
rs4785405	1.00[EUR][1000 genomes]
rs56093600	1.00[EUR][1000 genomes]
rs57124014	1.00[EUR][1000 genomes]
rs57432729	1.00[EUR][1000 genomes]
rs57740199	1.00[EUR][1000 genomes]
rs58204235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58622309	1.00[EUR][1000 genomes]
rs59311846	1.00[EUR][1000 genomes]
rs59312258	1.00[EUR][1000 genomes]
rs59466391	1.00[EUR][1000 genomes]
rs59528776	1.00[EUR][1000 genomes]
rs59766379	1.00[EUR][1000 genomes]
rs59832329	1.00[EUR][1000 genomes]
rs59966196	1.00[EUR][1000 genomes]
rs6500304	1.00[EUR][1000 genomes]
rs6500305	1.00[EUR][1000 genomes]
rs7187069	1.00[EUR][1000 genomes]
rs7197701	1.00[EUR][1000 genomes]
rs7203314	1.00[EUR][1000 genomes]
rs73540833	1.00[EUR][1000 genomes]
rs73540845	1.00[EUR][1000 genomes]
rs73540853	1.00[EUR][1000 genomes]
rs74018249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018255	1.00[EUR][1000 genomes]
rs8046592	1.00[EUR][1000 genomes]
rs8048367	1.00[EUR][1000 genomes]
rs8056553	1.00[EUR][1000 genomes]
rs8058288	1.00[EUR][1000 genomes]
rs9302750	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs939360	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs939362	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs961668	1.00[EUR][1000 genomes]
rs9925287	1.00[EUR][1000 genomes]
rs9926338	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933094	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933277	1.00[EUR][1000 genomes]
rs9935027	1.00[EUR][1000 genomes]
rs9936500	1.00[EUR][1000 genomes]
rs9936532	1.00[EUR][1000 genomes]
rs9938810	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940987	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48146400-48160600	Weak transcription	Right Atrium	heart
2	chr16:48147400-48151400	Weak transcription	Pancreas	Pancrea
3	chr16:48147600-48160600	Weak transcription	Psoas Muscle	Psoas
4	chr16:48150600-48151400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:48151000-48152200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:48151000-48152800	Enhancers	A549	lung
7	chr16:48151000-48153200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr16:48151200-48151400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr16:48151200-48151400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:48151200-48151400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr16:48151200-48151400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:48151200-48151400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr16:48151200-48151400	Enhancers	HMEC	breast
14	chr16:48151200-48151600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:48151200-48151600	Enhancers	Right Ventricle	heart
16	chr16:48151200-48151600	Enhancers	Spleen	Spleen
17	chr16:48151200-48151600	Flanking Active TSS	HepG2	liver
18	chr16:48151200-48151800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr16:48151200-48151800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr16:48151200-48151800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr16:48151200-48152000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr16:48151200-48152000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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