Variant report

Variant	rs8058642
Chromosome Location	chr16:71401655-71401656
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	RAD21	chr16:71401323-71401689	A549	lung:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
2	CTCF	chr16:71401151-71401754	HCT-116	colon:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
3	RAD21	chr16:71401264-71401659	H1-hESC	embryonic stem cell:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
4	MAZ	chr16:71401197-71401660	K562	blood:	n/a	n/a
5	SIN3A	chr16:71401306-71401662	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr16:71401335-71401665	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr16:71401274-71401687	K562	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
8	RAD21	chr16:71401256-71401671	SK-N-SH_RA	brain:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
9	SMC3	chr16:71401168-71401775	SK-N-SH	brain:	n/a	chr16:71401475-71401489 chr16:71401475-71401485
10	ZNF143	chr16:71401255-71401666	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUN	chr16:71400979-71401761	K562	blood:	n/a	n/a
12	CTCF	chr16:71401368-71401670	A549	lung:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
13	RAD21	chr16:71401233-71401698	ECC-1	luminal epithelium:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
14	RCOR1	chr16:71401075-71401659	K562	blood:	n/a	n/a
15	CTCF	chr16:71401235-71401662	H1-hESC	embryonic stem cell:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
16	RAD21	chr16:71401169-71401740	H1-hESC	embryonic stem cell:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
17	RAD21	chr16:71401088-71401790	HCT-116	colon:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
18	RAD21	chr16:71401181-71401761	MCF-7	breast:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
19	RAD21	chr16:71401235-71401692	H1-hESC	embryonic stem cell:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
20	CTCF	chr16:71401076-71401889	SK-N-SH	brain:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
21	CTCF	chr16:71401265-71401761	MCF-7	breast:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
22	RAD21	chr16:71401152-71401838	SK-N-SH	brain:	n/a	chr16:71401473-71401485 chr16:71401471-71401490 chr16:71401800-71401813
23	RAD21	chr16:71401099-71401835	HCT-116	colon:	n/a	chr16:71401473-71401485 chr16:71401471-71401490 chr16:71401800-71401813
24	SMC3	chr16:71401255-71401666	K562	blood:	n/a	chr16:71401475-71401489 chr16:71401475-71401485
25	ZNF143	chr16:71401313-71401657	GM12878	blood:	n/a	n/a
26	CTCF	chr16:71401177-71401865	A549	lung:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
27	CTCF	chr16:71401315-71401669	K562	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
28	CTCF	chr16:71401168-71401781	K562	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
29	RAD21	chr16:71401198-71401696	HepG2	liver:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
30	CTCF	chr16:71401287-71401686	GM12878	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
31	ZNF143	chr16:71401248-71401658	K562	blood:	n/a	n/a
32	CTCF	chr16:71401262-71401667	K562	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
33	CTCF	chr16:71401224-71401746	MCF-7	breast:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
34	RAD21	chr16:71401252-71401722	A549	lung:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
35	YY1	chr16:71401051-71401700	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr16:71401227-71401691	H1-hESC	embryonic stem cell:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
37	RAD21	chr16:71401229-71401676	MCF-7	breast:	n/a	chr16:71401473-71401485 chr16:71401471-71401490

No.	Distal block	Cell Line	Cell type
1	chr16:71033342..71034367-chr16:71401264..71401962,5	MCF-7	breast:
2	chr16:71033616..71034231-chr16:71400920..71401907,2	MCF-7	breast:
3	chr16:71400999..71401956-chr16:71445867..71446859,3	K562	blood:
4	chr16:71400881..71402032-chr16:71446303..71446913,3	MCF-7	breast:
5	chr16:71400154..71401758-chr16:71407652..71409706,2	MCF-7	breast:
6	chr16:71391648..71392912-chr16:71401086..71401951,3	MCF-7	breast:

Variant related genes	Relation type
CALB2	TF binding region
ENSG00000172137	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11545954	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788542	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788543	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4788799	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59788423	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60352330	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61069194	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62055045	0.86[EUR][1000 genomes]
rs62055047	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62055048	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62055049	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62055052	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62055053	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62055054	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62055055	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6499508	0.85[EUR][1000 genomes]
rs6499511	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499512	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188404	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7193435	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1062426	chr16:71307180-71423400	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv572949	chr16:71352071-71426563	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv984242	chr16:71401590-71404832	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71398200-71407000	Weak transcription	Right Atrium	heart
2	chr16:71398800-71419800	Weak transcription	Brain Germinal Matrix	brain
3	chr16:71399600-71405200	Weak transcription	Adipose Nuclei	Adipose
4	chr16:71401200-71401800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr16:71401200-71402200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:71401600-71401800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr16:71401600-71402000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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