Variant report

Variant	rs3805971
Chromosome Location	chr6:70667927-70667928
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:70662410..70664369-chr6:70665696..70668642,2	K562	blood:
2	chr6:70664026..70665656-chr6:70667734..70669345,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10485244	0.86[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes]
rs17766479	0.94[AMR][1000 genomes]
rs3793036	0.94[AMR][1000 genomes]
rs3805961	1.00[AMR][1000 genomes]
rs3805962	1.00[AMR][1000 genomes]
rs3805966	1.00[AMR][1000 genomes]
rs3805968	1.00[AMR][1000 genomes]
rs3805973	1.00[AMR][1000 genomes]
rs3805977	0.83[AMR][1000 genomes]
rs3805982	0.85[CEU][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3805987	0.86[MEX][hapmap]
rs3828766	0.86[MEX][hapmap]
rs56922945	0.87[AMR][1000 genomes]
rs59707679	0.89[AMR][1000 genomes]
rs6938320	0.88[AMR][1000 genomes]
rs7761968	0.88[AMR][1000 genomes]
rs9346367	0.86[MEX][hapmap]
rs9446169	0.86[MEX][hapmap];0.85[TSI][hapmap];0.95[AMR][1000 genomes]
rs9446170	0.86[MEX][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes]
rs9446172	0.86[MEX][hapmap];0.85[TSI][hapmap];0.95[AMR][1000 genomes]
rs9454908	0.92[AMR][1000 genomes]
rs9454910	0.92[AMR][1000 genomes]
rs9454914	0.92[AMR][1000 genomes]
rs978290	0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886140	chr6:70354682-70728202	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv886141	chr6:70590638-70694162	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1026151	chr6:70621616-70946967	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv463151	chr6:70625166-70694162	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv603636	chr6:70625166-70694162	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv470832	chr6:70654657-70767756	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv603637	chr6:70658432-70740151	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv603638	chr6:70658432-70740306	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv933674	chr6:70663616-70973112	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70654200-70671400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:70659200-70672000	Weak transcription	GM12878-XiMat	blood
3	chr6:70659400-70669400	Weak transcription	Primary B cells from cord blood	blood
4	chr6:70663800-70669000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:70664200-70670800	Weak transcription	HSMMtube	muscle
6	chr6:70664400-70671800	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:70667000-70668200	Strong transcription	Primary B cells from peripheral blood	blood

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