Variant report

Variant	rs17010752
Chromosome Location	chr2:31374626-31374627
allele	A/G
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	chr2:31374540-31374690	SAEC	small airway:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
2	CTCF	chr2:31374580-31374730	A549	lung:	n/a	n/a
3	CTCF	chr2:31374541-31374669	GM12878	blood:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
4	CTCF	chr2:31374434-31374680	H1-hESC	embryonic stem cell:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
5	CTCF	chr2:31374493-31374636	Medullo	brain:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
6	RAD21	chr2:31374355-31374844	A549	lung:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
7	CTCF	chr2:31374526-31374665	H1-hESC	embryonic stem cell:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
8	CTCF	chr2:31374520-31374670	AG04450	lung:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
9	CTCF	chr2:31374523-31374639	K562	blood:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
10	CTCF	chr2:31374457-31374681	LNCaP	prostate:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
11	CTCF	chr2:31374426-31374655	A549	lung:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
12	CTCF	chr2:31374478-31374649	A549	lung:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
13	CTCF	chr2:31374488-31374643	IMR90	lung:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
14	CTCF	chr2:31374502-31374634	HepG2	liver:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
15	RAD21	chr2:31374449-31374660	SK-N-SH_RA	brain:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
16	CTCF	chr2:31374500-31374650	HCT-116	colon:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
17	RAD21	chr2:31374403-31374767	H1-hESC	embryonic stem cell:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
18	RAD21	chr2:31374317-31374863	MCF-7	breast:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
19	CTCF	chr2:31374505-31374649	Gliobla	brain:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
20	CTCF	chr2:31374491-31374667	A549	lung:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
21	CTCF	chr2:31374469-31374671	LNCaP	prostate:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
22	CTCF	chr2:31374500-31374650	Caco-2	colon:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
23	CTCF	chr2:31374480-31374630	SK-N-SH_RA	brain:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
24	CTCF	chr2:31374536-31374628	NHEK	skin:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
25	RAD21	chr2:31374452-31374697	IMR90	lung:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
26	CTCF	chr2:31374540-31374690	HRE	kidney:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
27	CTCF	chr2:31374540-31374690	HEK293	kidney:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
28	CTCF	chr2:31374381-31374742	H1-hESC	embryonic stem cell:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
29	CTCF	chr2:31374540-31374690	BJ	skin:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
30	CTCF	chr2:31374469-31374675	MCF-7	breast:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
31	RAD21	chr2:31374447-31374765	H1-hESC	embryonic stem cell:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
32	RAD21	chr2:31374253-31374924	SK-N-SH	brain:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
33	RAD21	chr2:31374431-31374729	SK-N-SH_RA	brain:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
34	CTCF	chr2:31374442-31374845	MCF-7	breast:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
35	CTCF	chr2:31374500-31374650	HepG2	liver:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
36	CTCF	chr2:31374520-31374670	A549	lung:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
37	CTCF	chr2:31374520-31374670	BE2_C	brain:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
38	CTCF	chr2:31374500-31374650	BE2_C	brain:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
39	CTCF	chr2:31374530-31374633	Fibrobl	skin:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
40	CTCF	chr2:31374400-31374690	HFF	foreskin:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
41	CTCF	chr2:31374480-31374630	HBMEC	blood vessel:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
42	GATA3	chr2:31374351-31374723	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:31374520-31374670	AG09319	gingival:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
44	CTCF	chr2:31374480-31374630	AG09309	skin:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
45	CTCF	chr2:31374480-31374630	MCF-7	breast:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
46	CTCF	chr2:31374480-31374630	AG09319	gingival:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
47	CTCF	chr2:31374495-31374671	MCF-7	breast:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
48	CTCF	chr2:31374540-31374690	NHEK	skin:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
49	CTCF	chr2:31374315-31374860	MCF-7	breast:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
50	CTCF	chr2:31374520-31374670	HRE	kidney:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589

No.	Distal block	Cell Line	Cell type
1	chr2:31374076..31374959-chr2:31556105..31557134,5	MCF-7	breast:
2	chr2:31368930..31370626-chr2:31374002..31376231,2	K562	blood:
3	chr2:31374189..31375034-chr2:31392805..31393608,2	MCF-7	breast:
4	chr2:31372563..31374637-chr2:31556201..31557717,2	MCF-7	breast:

Variant related genes	Relation type
GALNT14	TF binding region
ENSG00000158089	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1443717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010751	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751477	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs733501	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73921552	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73921578	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73921579	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745524	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750185	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607657	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv873771	chr2:31363732-31416582	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv873772	chr2:31363732-31417863	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv873773	chr2:31363732-31426449	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv873774	chr2:31363732-31432367	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873775	chr2:31363732-31439443	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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