Variant report

Variant	rs61978220
Chromosome Location	chr14:70659663-70659664
allele	A/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	chr14:70659660-70659810	GM12873	blood:	n/a	n/a
2	CTCF	chr14:70659660-70659810	HCT-116	colon:	n/a	n/a
3	CTCF	chr14:70659640-70659790	GM12871	blood:	n/a	n/a
4	CTCF	chr14:70659660-70659810	GM12864	blood:	n/a	n/a
5	RAD21	chr14:70659543-70660009	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr14:70659660-70659810	A549	lung:	n/a	n/a

Variant related genes	Relation type
SLC8A3	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1044538	1.00[ASN][1000 genomes]
rs11621661	1.00[ASN][1000 genomes]
rs11623663	1.00[ASN][1000 genomes]
rs11624309	1.00[ASN][1000 genomes]
rs11624706	1.00[ASN][1000 genomes]
rs11627167	1.00[ASN][1000 genomes]
rs11627175	1.00[ASN][1000 genomes]
rs11627938	1.00[ASN][1000 genomes]
rs11845636	1.00[ASN][1000 genomes]
rs11845665	1.00[ASN][1000 genomes]
rs11846216	1.00[ASN][1000 genomes]
rs11846726	1.00[ASN][1000 genomes]
rs11849053	1.00[ASN][1000 genomes]
rs11849199	1.00[ASN][1000 genomes]
rs11849318	1.00[ASN][1000 genomes]
rs12587023	0.87[EUR][1000 genomes]
rs2022743	0.87[EUR][1000 genomes]
rs3859	1.00[ASN][1000 genomes]
rs45565842	1.00[ASN][1000 genomes]
rs58854929	1.00[ASN][1000 genomes]
rs61977472	1.00[ASN][1000 genomes]
rs61977473	1.00[ASN][1000 genomes]
rs61977474	1.00[ASN][1000 genomes]
rs61977478	1.00[ASN][1000 genomes]
rs61977479	1.00[ASN][1000 genomes]
rs61977501	1.00[ASN][1000 genomes]
rs61977502	1.00[ASN][1000 genomes]
rs61977508	1.00[ASN][1000 genomes]
rs61977509	1.00[ASN][1000 genomes]
rs61977511	1.00[ASN][1000 genomes]
rs61977535	1.00[ASN][1000 genomes]
rs61977538	1.00[ASN][1000 genomes]
rs61977539	1.00[ASN][1000 genomes]
rs61977540	1.00[ASN][1000 genomes]
rs61977541	1.00[ASN][1000 genomes]
rs61977544	1.00[ASN][1000 genomes]
rs61977549	1.00[ASN][1000 genomes]
rs61977550	1.00[ASN][1000 genomes]
rs61977551	1.00[ASN][1000 genomes]
rs61978215	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978216	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978257	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979461	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979483	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979484	0.87[EUR][1000 genomes]
rs61979485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979490	0.85[EUR][1000 genomes]
rs61979502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979505	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979511	1.00[ASN][1000 genomes]
rs61979512	1.00[ASN][1000 genomes]
rs6573941	0.87[EUR][1000 genomes]
rs6573943	0.87[EUR][1000 genomes]
rs7142682	0.87[EUR][1000 genomes]
rs72625691	0.87[EUR][1000 genomes]
rs74062899	1.00[ASN][1000 genomes]
rs74065307	1.00[ASN][1000 genomes]
rs74065314	1.00[ASN][1000 genomes]
rs8003965	0.87[EUR][1000 genomes]
rs8004391	0.87[EUR][1000 genomes]
rs8019979	0.87[EUR][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	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr14:70656400-70688400	Weak transcription	Psoas Muscle	Psoas
2	chr14:70657000-70660000	Weak transcription	HSMMtube	muscle
3	chr14:70657200-70661000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:70658600-70659800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:70659200-70660200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:70659600-70659800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:70659600-70660400	Enhancers	Primary hematopoietic stem cells	blood

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