Variant report

Variant	rs16840282
Chromosome Location	chr1:158466352-158466353
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	CTCF	chr1:158466280-158466430	AG09319	gingival:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
2	CTCF	chr1:158466220-158466370	HCM	heart:	n/a	n/a
3	CTCF	chr1:158466280-158466430	GM12873	blood:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
4	CTCF	chr1:158466260-158466410	GM06990	blood:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
5	CTCF	chr1:158466280-158466430	GM12865	blood:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
6	RAD21	chr1:158466276-158466454	SK-N-SH_RA	brain:	n/a	chr1:158466364-158466373 chr1:158466358-158466377
7	CTCF	chr1:158466297-158466460	Gliobla	brain:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
8	CTCF	chr1:158466280-158466430	GM12874	blood:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
9	CTCF	chr1:158466273-158466395	HepG2	liver:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
10	CTCF	chr1:158466069-158466511	SK-N-SH	brain:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
11	CTCF	chr1:158466280-158466430	MCF-7	breast:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
12	CTCF	chr1:158466220-158466370	GM12865	blood:	n/a	n/a
13	RAD21	chr1:158466228-158466428	HepG2	liver:	n/a	chr1:158466364-158466373 chr1:158466358-158466377
14	CTCF	chr1:158466269-158466465	Spleen_OC	spleen:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
15	CTCF	chr1:158466340-158466490	GM12872	blood:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
16	CTCF	chr1:158466226-158466576	H1-hESC	embryonic stem cell:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
17	CTCF	chr1:158466317-158466461	GM13976	blood:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
18	CTCF	chr1:158466301-158466444	MCF-7	breast:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
19	CTCF	chr1:158466280-158466430	AG10803	skin:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
20	CTCF	chr1:158466320-158466470	HEK293	kidney:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
21	CTCF	chr1:158466340-158466490	MCF-7	breast:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
22	CTCF	chr1:158466340-158466490	HMEC	breast:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
23	CTCF	chr1:158466276-158466396	SK-N-SH_RA	brain:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
24	CTCF	chr1:158466340-158466490	GM12873	blood:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
25	ZNF143	chr1:158466271-158466497	GM12878	blood:	n/a	n/a
26	CTCF	chr1:158466260-158466410	NHEK	skin:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
27	CTCF	chr1:158466240-158466390	GM12867	blood:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
28	CTCF	chr1:158466300-158466450	HRE	kidney:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
29	CTCF	chr1:158466220-158466470	GM06990	blood:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
30	CTCF	chr1:158466278-158466443	LNCaP	prostate:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
31	CTCF	chr1:158466280-158466430	HRE	kidney:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
32	CTCF	chr1:158466280-158466430	NHEK	skin:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
33	RAD21	chr1:158466199-158466498	Hela-S3	cervix:	n/a	chr1:158466364-158466373 chr1:158466358-158466377
34	CTCF	chr1:158466320-158466470	GM12864	blood:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
35	RAD21	chr1:158466224-158466564	ECC-1	luminal epithelium:	n/a	chr1:158466364-158466373 chr1:158466358-158466377
36	RAD21	chr1:158466269-158466426	K562	blood:	n/a	chr1:158466364-158466373 chr1:158466358-158466377
37	CTCF	chr1:158466300-158466450	HMEC	breast:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
38	SMC3	chr1:158466189-158466550	GM12878	blood:	n/a	chr1:158466362-158466376
39	CTCF	chr1:158466300-158466450	HPAF	blood vessel:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
40	CTCF	chr1:158466280-158466430	AoAF	blood vessel:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
41	RAD21	chr1:158466091-158466584	H1-hESC	embryonic stem cell:	n/a	chr1:158466364-158466373 chr1:158466358-158466377
42	CTCF	chr1:158466280-158466430	SK-N-SH_RA	brain:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
43	CTCF	chr1:158466279-158466460	LNCaP	prostate:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
44	CTCF	chr1:158466320-158466470	HEEpiC	esophagus:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
45	CTCF	chr1:158466300-158466450	BJ	skin:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
46	CTCF	chr1:158466293-158466459	Kidney_OC	kidney:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
47	CTCF	chr1:158466260-158466410	HMF	breast:	n/a	chr1:158466361-158466377 chr1:158466355-158466376
48	RAD21	chr1:158466181-158466524	GM12878	blood:	n/a	chr1:158466364-158466373 chr1:158466358-158466377
49	RAD21	chr1:158466257-158466486	SK-N-SH_RA	brain:	n/a	chr1:158466364-158466373 chr1:158466358-158466377
50	CTCF	chr1:158466300-158466450	SAEC	small airway:	n/a	chr1:158466361-158466377 chr1:158466355-158466376

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158173492..158174259-chr1:158466062..158466855,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236656	TF binding region
ENSG00000176320	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16840201	1.00[AFR][1000 genomes]
rs16840291	1.00[AFR][1000 genomes]
rs16840297	1.00[AFR][1000 genomes]
rs61751723	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1001046	chr1:158461563-158503338	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158466000-158466400	Active TSS	Thymus	Thymus
2	chr1:158466200-158467200	Enhancers	Dnd41	blood

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