Variant report

Variant	rs8034550
Chromosome Location	chr15:39982973-39982974
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	chr15:39974204..39976528-chr15:39982397..39984405,2	MCF-7	breast:
2	chr15:39980861..39985158-chr15:39988045..39992700,5	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11858148	0.85[JPT][hapmap]
rs12437837	0.86[JPT][hapmap]
rs12440567	0.85[JPT][hapmap]
rs12911910	1.00[CEU][hapmap]
rs16952186	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16969621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16969789	0.86[JPT][hapmap]
rs16969802	0.86[JPT][hapmap]
rs2171312	0.86[JPT][hapmap]
rs4923838	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4924379	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4924380	1.00[CHB][hapmap]
rs4924383	0.93[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4924387	0.85[JPT][hapmap]
rs59180773	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59434895	0.81[AMR][1000 genomes]
rs60431166	0.81[AMR][1000 genomes]
rs61620785	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61695850	0.81[AMR][1000 genomes]
rs7173020	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72727050	0.84[ASN][1000 genomes]
rs8024166	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs8032864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8034520	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035291	0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8035986	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs951374	0.81[AMR][1000 genomes];0.95[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	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39974800-39985000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:39975400-39984400	Weak transcription	Fetal Kidney	kidney
3	chr15:39977200-39990600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:39979200-39983200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:39979800-39985000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:39980200-39983000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:39981800-39983000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:39982000-39985800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr15:39982400-39983200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:39982400-39983800	Enhancers	K562	blood
11	chr15:39982600-39985800	Enhancers	Fetal Stomach	stomach
12	chr15:39982800-39983000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:39982800-39983200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:39982800-39983200	Enhancers	Fetal Muscle Leg	muscle
15	chr15:39982800-39983800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:39982800-39985000	Enhancers	Fetal Lung	lung
17	chr15:39982800-39985200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:39982800-39986200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:39982800-39986400	Enhancers	Brain Germinal Matrix	brain

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