Variant report

Variant	rs6997969
Chromosome Location	chr8:130661870-130661871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130660996..130663314-chr8:130665198..130667685,2	MCF-7	breast:
2	chr8:130661192..130664016-chr8:130665123..130667004,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10097823	0.92[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs10098045	0.93[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs12155665	0.97[ASN][1000 genomes]
rs12544799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545821	0.92[ASN][1000 genomes]
rs13249422	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13249717	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13250002	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13250085	0.92[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs13252239	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13256078	0.80[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13258791	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16904128	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs16904136	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16904138	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16904139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28408379	0.86[ASN][1000 genomes]
rs28464338	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28491539	0.91[ASN][1000 genomes]
rs34064664	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34135752	0.91[ASN][1000 genomes]
rs34271371	0.92[ASN][1000 genomes]
rs34325696	0.92[ASN][1000 genomes]
rs34389024	0.94[ASN][1000 genomes]
rs35057631	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35319444	0.86[ASN][1000 genomes]
rs35406957	0.86[ASN][1000 genomes]
rs35484532	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35823317	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35928814	0.92[ASN][1000 genomes]
rs36121385	0.86[ASN][1000 genomes]
rs4327829	0.92[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs4397369	0.86[ASN][1000 genomes]
rs4397370	0.88[ASN][1000 genomes]
rs4448234	0.93[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs4518628	0.93[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs4562281	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4565426	0.93[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs4566996	0.93[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs4609165	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4626563	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4634602	0.84[ASN][1000 genomes]
rs4733553	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4733556	0.93[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs4733720	0.93[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs58311093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470753	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs6985166	0.93[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs6987436	0.85[JPT][hapmap]
rs6991709	0.89[ASN][1000 genomes]
rs6991966	0.91[ASN][1000 genomes]
rs6998156	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998547	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998877	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7006026	0.93[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs7006796	0.86[ASN][1000 genomes]
rs71522551	0.94[ASN][1000 genomes]
rs7812657	0.91[ASN][1000 genomes]
rs7828331	0.92[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs7841900	0.92[ASN][1000 genomes]
rs7841975	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9792140	0.88[ASN][1000 genomes]
rs9792265	0.88[ASN][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	nsv612230	chr8:130624121-130661901	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130661600-130662000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:130661800-130663000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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