Variant report

Variant	rs716683
Chromosome Location	chr8:61905592-61905593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61822833..61825147-chr8:61903679..61905597,2	MCF-7	breast:
2	chr8:61903857..61905695-chr8:61908821..61910338,2	K562	blood:
3	chr8:61904064..61906446-chr8:61914213..61915815,2	K562	blood:

Variant related genes	Relation type
ENSG00000254777	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10095243	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10098608	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13261682	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16926675	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28480198	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28625476	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35695994	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9692725	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9693558	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv890948	chr8:61844766-61954970	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020323	chr8:61901412-61941384	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61896400-61909800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:61896800-61908800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:61896800-61909200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:61896800-61909200	Weak transcription	Fetal Brain Male	brain
5	chr8:61899800-61908800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:61900800-61908800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:61904200-61906200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:61904600-61907200	Enhancers	Primary B cells from cord blood	blood
9	chr8:61904800-61906000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:61904800-61906400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:61905000-61906000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:61905000-61907400	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:61905200-61905600	Enhancers	Fetal Muscle Leg	muscle
14	chr8:61905200-61905800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:61905200-61906600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:61905200-61907000	Enhancers	GM12878-XiMat	blood
17	chr8:61905400-61905600	Enhancers	Fetal Thymus	thymus
18	chr8:61905400-61906000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:61905400-61906800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:61905400-61906800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:61905400-61907200	Enhancers	Primary T cells from cord blood	blood

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