Variant report

Variant	rs6989876
Chromosome Location	chr8:130047747-130047748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:128746070..128748632-chr8:130047093..130048841,2	K562	blood:

Variant related genes	Relation type
ENSG00000249375	Chromatin interaction
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10091534	0.96[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10092510	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10092630	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10095301	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10099762	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10101123	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10102305	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10103413	0.80[AMR][1000 genomes]
rs10108864	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10109509	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10110358	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10110974	0.86[ASN][1000 genomes]
rs10464829	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10464869	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10481172	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10505532	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10505533	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10505534	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10808573	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10808574	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10808576	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10956460	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956461	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11776007	0.86[ASN][1000 genomes]
rs11781071	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11784932	0.82[EUR][1000 genomes]
rs13264853	0.98[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1372445	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1372446	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1372454	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1441987	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1441990	0.86[ASN][1000 genomes]
rs1441991	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1866980	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2028514	0.84[ASN][1000 genomes]
rs2028515	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35157858	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3885943	0.90[EUR][1000 genomes]
rs4266613	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4326354	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4367496	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4386943	0.90[EUR][1000 genomes]
rs4391393	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4445189	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4628228	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4733674	0.90[EUR][1000 genomes]
rs55830016	0.82[EUR][1000 genomes]
rs56104205	0.86[EUR][1000 genomes]
rs56198698	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6470673	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6470675	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6470683	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6470684	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6470688	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470693	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6989798	0.82[EUR][1000 genomes]
rs6991090	0.82[EUR][1000 genomes]
rs6995803	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6995813	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6997012	0.82[EUR][1000 genomes]
rs7001390	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7003201	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7003680	0.82[EUR][1000 genomes]
rs7008734	0.80[AMR][1000 genomes]
rs7015312	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7016655	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7017891	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7018297	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs766811	0.83[ASN][1000 genomes]
rs7814844	0.87[EUR][1000 genomes]
rs7818239	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7822165	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7827792	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7827975	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7828005	0.86[EUR][1000 genomes]
rs7833433	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7836420	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7837430	0.90[AFR][1000 genomes]
rs7843646	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7843900	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7844734	0.90[EUR][1000 genomes]
rs9297780	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9297781	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9297782	0.90[EUR][1000 genomes]
rs9969663	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][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	nsv891442	chr8:130016499-130130604	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv891444	chr8:130024642-130130604	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130036400-130051000	Weak transcription	Fetal Thymus	thymus
2	chr8:130045400-130048000	Strong transcription	Dnd41	blood
3	chr8:130046800-130047800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:130046800-130047800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr8:130046800-130047800	Enhancers	NHEK	skin
6	chr8:130047000-130047800	Enhancers	HMEC	breast
7	chr8:130047200-130047800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:130047200-130048000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:130047400-130047800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:130047400-130047800	Enhancers	Placenta Amnion	Placenta Amnion

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