Variant report

Variant	rs4375608
Chromosome Location	chr15:52295451-52295452
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	CBX3	chr15:52295288-52295805	K562	blood:	n/a	n/a
2	CTCF	chr15:52295360-52295510	HEK293	kidney:	n/a	n/a
3	CHD2	chr15:52295410-52295602	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr15:52295420-52295570	GM12873	blood:	n/a	n/a
5	ZBTB33	chr15:52295335-52295578	K562	blood:	n/a	n/a
6	CHD2	chr15:52295286-52295608	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52293340..52296170-chr15:52297609..52300846,4	MCF-7	breast:

Variant related genes	Relation type
MAPK6	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10152141	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10518675	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16964694	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16964700	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16964705	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17540338	1.00[EUR][1000 genomes]
rs17612255	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17612326	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2001741	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2017967	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2246726	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2414120	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2414123	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2441779	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470593	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470594	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470595	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2554340	0.93[ASN][1000 genomes]
rs3099571	0.93[ASN][1000 genomes]
rs4456445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4491448	1.00[EUR][1000 genomes]
rs4774606	0.86[AMR][1000 genomes]
rs4775993	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4775995	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4775996	0.86[AMR][1000 genomes]
rs55714716	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55873482	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56307802	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56677715	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58000475	0.93[ASN][1000 genomes]
rs61546369	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7177328	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7359204	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs74013636	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74013638	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs74013640	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs74013641	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs74013642	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs74013644	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs74013645	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs74013646	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs74013647	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs74013648	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs74013653	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74013654	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs74013656	0.84[ASN][1000 genomes]
rs74013657	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74013659	1.00[EUR][1000 genomes]
rs7497554	0.86[ASN][1000 genomes]
rs751560	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8033365	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8033840	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8036048	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8040728	0.86[ASN][1000 genomes]
rs8041281	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9796534	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053788	chr15:52223389-52307138	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv517399	chr15:52266878-52305464	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1536	chr15:52276293-52320919	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52287600-52298000	Weak transcription	HSMMtube	muscle
2	chr15:52293000-52303200	Weak transcription	Pancreas	Pancrea
3	chr15:52293400-52303200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:52294800-52300600	Weak transcription	Lung	lung
5	chr15:52295000-52297800	Weak transcription	HUVEC	blood vessel

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