Variant report

Variant	rs6997012
Chromosome Location	chr8:130100306-130100307
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	chr8:130100287..130102038-chr8:130102754..130104834,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10092510	0.88[EUR][1000 genomes]
rs10101123	0.84[EUR][1000 genomes]
rs10435553	0.87[AFR][1000 genomes]
rs10435555	0.82[AFR][1000 genomes]
rs10448000	0.86[AFR][1000 genomes]
rs10464829	0.84[EUR][1000 genomes]
rs10464869	0.85[EUR][1000 genomes]
rs10505532	0.82[EUR][1000 genomes]
rs10505533	0.82[EUR][1000 genomes]
rs10505534	0.82[EUR][1000 genomes]
rs10808573	0.82[EUR][1000 genomes]
rs10808574	0.90[EUR][1000 genomes]
rs10808575	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10808576	0.81[AMR][1000 genomes]
rs10956460	0.84[EUR][1000 genomes]
rs10956461	0.85[EUR][1000 genomes]
rs11781071	0.81[EUR][1000 genomes]
rs11784932	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12541935	0.85[AFR][1000 genomes]
rs12548560	0.83[EUR][1000 genomes]
rs13276597	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1372454	0.83[EUR][1000 genomes]
rs1441987	0.81[EUR][1000 genomes]
rs34294444	0.86[AFR][1000 genomes]
rs35157858	0.81[EUR][1000 genomes]
rs3885943	0.92[EUR][1000 genomes]
rs4266613	0.81[AMR][1000 genomes]
rs4326354	0.81[AMR][1000 genomes]
rs4367496	0.84[EUR][1000 genomes]
rs4386943	0.92[EUR][1000 genomes]
rs4391393	0.80[EUR][1000 genomes]
rs4445189	0.85[EUR][1000 genomes]
rs4487715	0.81[EUR][1000 genomes]
rs4493878	0.87[AFR][1000 genomes]
rs4545059	0.81[EUR][1000 genomes]
rs4566994	0.87[AFR][1000 genomes]
rs4733674	0.92[EUR][1000 genomes]
rs55830016	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56104205	0.96[EUR][1000 genomes]
rs56198698	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57797099	0.86[AFR][1000 genomes]
rs59669561	0.82[AFR][1000 genomes]
rs6470683	0.85[EUR][1000 genomes]
rs6470684	0.90[EUR][1000 genomes]
rs6470685	0.80[EUR][1000 genomes]
rs6470688	0.84[EUR][1000 genomes]
rs6470691	0.81[EUR][1000 genomes]
rs6470693	0.80[EUR][1000 genomes]
rs6989798	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6989876	0.82[EUR][1000 genomes]
rs6991090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6995803	0.85[EUR][1000 genomes]
rs6995813	0.92[EUR][1000 genomes]
rs7001390	0.90[EUR][1000 genomes]
rs7003680	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004935	0.89[AFR][1000 genomes]
rs7008734	0.80[EUR][1000 genomes]
rs73382040	0.81[AFR][1000 genomes]
rs73382043	0.81[AFR][1000 genomes]
rs7814844	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7815639	0.84[AFR][1000 genomes]
rs7816364	0.87[AFR][1000 genomes]
rs7821930	0.82[EUR][1000 genomes]
rs7828005	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7832166	0.87[AFR][1000 genomes]
rs7832400	0.81[AFR][1000 genomes]
rs7832834	0.87[AFR][1000 genomes]
rs7833157	0.86[AFR][1000 genomes]
rs7837430	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7840107	0.87[AFR][1000 genomes]
rs7841546	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842220	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7842406	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7844734	0.92[EUR][1000 genomes]
rs9297782	0.92[EUR][1000 genomes]
rs9650100	0.87[AFR][1000 genomes]
rs9650101	0.87[AFR][1000 genomes]
rs9969663	0.85[EUR][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130085600-130115200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130094800-130112000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:130099200-130100400	Weak transcription	NH-A	brain
4	chr8:130099200-130100800	Strong transcription	Fetal Thymus	thymus
5	chr8:130099800-130100400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:130099800-130100600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:130099800-130100800	Enhancers	HSMM	muscle
8	chr8:130099800-130100800	Enhancers	Osteobl	bone
9	chr8:130100000-130100800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:130100000-130101000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:130100000-130104000	Genic enhancers	Dnd41	blood
12	chr8:130100200-130100800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:130100200-130100800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:130100200-130100800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:130100200-130101000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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