Variant report

Variant	rs520741
Chromosome Location	chr6:163507487-163507488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs2476473	0.89[ASN][1000 genomes]
rs2763991	0.85[ASN][1000 genomes]
rs471261	0.85[ASN][1000 genomes]
rs472429	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs474520	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs475849	0.87[ASN][1000 genomes]
rs476062	0.98[EUR][1000 genomes]
rs476445	0.85[ASN][1000 genomes]
rs480064	0.94[ASN][1000 genomes]
rs485054	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs492214	0.81[EUR][1000 genomes]
rs493411	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs493847	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs495882	0.96[EUR][1000 genomes]
rs520847	0.85[ASN][1000 genomes]
rs522682	0.85[ASN][1000 genomes]
rs524763	0.85[ASN][1000 genomes]
rs528064	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs541681	0.86[ASN][1000 genomes]
rs547244	0.98[EUR][1000 genomes]
rs549110	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs551705	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs551797	0.96[ASN][1000 genomes]
rs556085	0.88[ASN][1000 genomes]
rs556971	0.88[ASN][1000 genomes]
rs561216	0.96[EUR][1000 genomes]
rs562100	0.95[EUR][1000 genomes]
rs562299	0.81[EUR][1000 genomes]
rs566169	0.81[EUR][1000 genomes]
rs573070	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs574055	0.88[ASN][1000 genomes]
rs577398	0.85[ASN][1000 genomes]
rs578822	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs579172	0.97[ASN][1000 genomes]
rs579628	0.98[EUR][1000 genomes]
rs61302670	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917926	chr6:162646457-163609259	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv529089	chr6:163129464-163516451	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1026490	chr6:163133433-163705708	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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	8 gene(s)	inside rSNPs	diseases
5	nsv869286	chr6:163146342-163697445	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1030116	chr6:163273707-163525678	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1020900	chr6:163302262-163517812	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv916587	chr6:163337791-163606120	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1021433	chr6:163375760-163509866	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv886917	chr6:163507051-163573962	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163501600-163508400	Weak transcription	Pancreas	Pancrea
2	chr6:163503800-163507600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:163503800-163507600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:163505200-163514200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:163506800-163507600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:163506800-163508200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:163507000-163507600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:163507000-163507600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr6:163507000-163508200	Enhancers	NH-A	brain
10	chr6:163507200-163519400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:163507400-163507600	Enhancers	Fetal Heart	heart
12	chr6:163507400-163507800	Weak transcription	Left Ventricle	heart
13	chr6:163507400-163510000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:163507400-163514600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:163507400-163514800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:163507400-163515000	Weak transcription	H9 Cell Line	embryonic stem cell

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