Variant report

Variant	rs6852840
Chromosome Location	chr4:48480304-48480305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48478979..48481680-chr4:48482843..48484535,2	K562	blood:
2	chr4:48478067..48481410-chr4:48493413..48496125,3	K562	blood:
3	chr4:48473818..48475564-chr4:48478853..48480558,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10517225	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11727472	0.91[ASN][1000 genomes]
rs11932126	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12498166	0.91[ASN][1000 genomes]
rs12506770	0.91[ASN][1000 genomes]
rs12508327	0.91[ASN][1000 genomes]
rs13110719	0.91[ASN][1000 genomes]
rs13134960	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1565218	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565221	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16861344	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16861347	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1702800	0.91[ASN][1000 genomes]
rs1712762	0.91[ASN][1000 genomes]
rs17609521	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17609535	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17609556	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17609614	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17609740	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17609761	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17655725	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17655741	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17656189	0.91[ASN][1000 genomes]
rs17656212	0.91[ASN][1000 genomes]
rs17656255	0.91[ASN][1000 genomes]
rs1850520	0.91[ASN][1000 genomes]
rs2171577	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28581223	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2945331	0.91[ASN][1000 genomes]
rs3107023	0.91[ASN][1000 genomes]
rs4235156	0.91[ASN][1000 genomes]
rs4610307	0.91[ASN][1000 genomes]
rs4695378	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4695388	0.91[ASN][1000 genomes]
rs55730515	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55884608	0.91[ASN][1000 genomes]
rs55986500	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56932035	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57676508	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57893769	0.91[ASN][1000 genomes]
rs58038882	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58244627	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58707818	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60891069	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6447646	0.91[ASN][1000 genomes]
rs6447648	0.91[ASN][1000 genomes]
rs6810911	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6825104	0.91[ASN][1000 genomes]
rs6847014	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs707719	0.91[ASN][1000 genomes]
rs73814762	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814763	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814782	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73814798	0.91[ASN][1000 genomes]
rs73817807	0.91[ASN][1000 genomes]
rs73817808	0.91[ASN][1000 genomes]
rs73817809	0.91[ASN][1000 genomes]
rs73817826	0.91[ASN][1000 genomes]
rs73817827	0.91[ASN][1000 genomes]
rs7690681	0.91[ASN][1000 genomes]
rs7693468	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695730	0.91[ASN][1000 genomes]
rs7695813	0.91[ASN][1000 genomes]
rs776582	0.91[ASN][1000 genomes]
rs776586	0.91[ASN][1000 genomes]
rs776593	0.91[ASN][1000 genomes]
rs776594	0.91[ASN][1000 genomes]
rs776596	0.91[ASN][1000 genomes]
rs776597	0.91[ASN][1000 genomes]
rs776598	0.91[ASN][1000 genomes]
rs776599	0.91[ASN][1000 genomes]
rs938790	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv1005268	chr4:48444307-48484389	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv537086	chr4:48444307-48484389	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv879008	chr4:48473439-48496804	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv879009	chr4:48476539-48494546	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48473000-48482000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:48473000-48483600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:48479400-48481000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr4:48479800-48484200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:48480000-48483400	Weak transcription	K562	blood
6	chr4:48480000-48484000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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