Variant report

Variant	rs73311930
Chromosome Location	chr10:50602119-50602120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:50601920-50602170	MCF-7	breast:	n/a	n/a
2	RAD21	chr10:50601861-50602178	H1-hESC	embryonic stem cell:	n/a	chr10:50601909-50601922
3	CTCF	chr10:50601817-50602163	MCF-7	breast:	n/a	n/a
4	CTCF	chr10:50601980-50602130	GM12868	blood:	n/a	n/a
5	CTCF	chr10:50601980-50602130	GM12870	blood:	n/a	n/a
6	CTCF	chr10:50602000-50602150	K562	blood:	n/a	n/a
7	CTCF	chr10:50601980-50602130	HMF	breast:	n/a	n/a
8	CTCF	chr10:50601821-50602197	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr10:50601980-50602130	GM12871	blood:	n/a	n/a
10	CTCF	chr10:50601980-50602130	GM12864	blood:	n/a	n/a
11	CTCF	chr10:50601980-50602130	AG04450	lung:	n/a	n/a
12	ZNF143	chr10:50601847-50602144	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr10:50602000-50602150	MCF-7	breast:	n/a	n/a
14	CTCF	chr10:50602000-50602150	GM12872	blood:	n/a	n/a
15	CTCF	chr10:50601900-50602140	K562	blood:	n/a	n/a
16	CTCF	chr10:50602000-50602150	GM12873	blood:	n/a	n/a
17	RAD21	chr10:50601872-50602120	H1-hESC	embryonic stem cell:	n/a	chr10:50601909-50601922
18	CTCF	chr10:50601980-50602130	GM12875	blood:	n/a	n/a
19	CTCF	chr10:50601980-50602130	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr10:50602040-50602190	HPAF	blood vessel:	n/a	n/a
21	ZNF263	chr10:50601829-50602277	HEK293-T-REx	kidney:	n/a	n/a
22	CTCF	chr10:50601980-50602130	Caco-2	colon:	n/a	n/a
23	CTCF	chr10:50601925-50602125	GM12878	blood:	n/a	n/a
24	CTCF	chr10:50602020-50602170	GM06990	blood:	n/a	n/a
25	RAD21	chr10:50601773-50602206	H1-hESC	embryonic stem cell:	n/a	chr10:50601909-50601922
26	CTCF	chr10:50601980-50602130	HEEpiC	esophagus:	n/a	n/a
27	CTCF	chr10:50601980-50602130	GM12873	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:50587898..50588680-chr10:50601547..50602465,2	K562	blood:
2	chr10:50599562..50602600-chr10:50603375..50606319,3	MCF-7	breast:
3	chr10:50600535..50602330-chr10:50610420..50612748,2	MCF-7	breast:

No data

Variant related genes	Relation type
DRGX	TF binding region
ENSG00000165606	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10508913	0.84[EUR][1000 genomes]
rs12572851	0.86[EUR][1000 genomes]
rs12572858	0.85[EUR][1000 genomes]
rs17009950	0.85[EUR][1000 genomes]
rs17009953	0.85[EUR][1000 genomes]
rs17176872	0.85[EUR][1000 genomes]
rs17176977	0.86[EUR][1000 genomes]
rs17177005	0.90[EUR][1000 genomes]
rs17783577	0.86[EUR][1000 genomes]
rs17783607	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3849153	0.82[EUR][1000 genomes]
rs4012237	0.82[EUR][1000 genomes]
rs41301105	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57455400	0.85[EUR][1000 genomes]
rs61848624	0.85[EUR][1000 genomes]
rs61848625	0.85[EUR][1000 genomes]
rs61848626	0.83[EUR][1000 genomes]
rs61848627	0.85[EUR][1000 genomes]
rs61848634	0.86[EUR][1000 genomes]
rs61848635	0.86[EUR][1000 genomes]
rs61848637	0.87[EUR][1000 genomes]
rs61848639	0.89[EUR][1000 genomes]
rs61848642	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61848644	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61848646	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61850964	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7915692	0.86[EUR][1000 genomes]
rs7916121	0.84[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895377	chr10:50588990-50678212	ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50600800-50603000	Weak transcription	Right Atrium	heart

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