Variant report

Variant	rs2019502
Chromosome Location	chr8:122141441-122141442
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	chr8:122141215..122143524-chr8:122156555..122159190,3	MCF-7	breast:
2	chr8:122124999..122126907-chr8:122139149..122141518,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271219	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10086195	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10090219	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10090321	1.00[EUR][1000 genomes]
rs10095334	1.00[EUR][1000 genomes]
rs10110816	1.00[EUR][1000 genomes]
rs12334557	1.00[EUR][1000 genomes]
rs1368596	1.00[EUR][1000 genomes]
rs16894758	1.00[EUR][1000 genomes]
rs28565105	1.00[EUR][1000 genomes]
rs28570182	1.00[EUR][1000 genomes]
rs28758639	1.00[EUR][1000 genomes]
rs28778943	1.00[EUR][1000 genomes]
rs28798236	1.00[EUR][1000 genomes]
rs28819392	1.00[EUR][1000 genomes]
rs28824237	1.00[EUR][1000 genomes]
rs57042634	1.00[EUR][1000 genomes]
rs57090387	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs58358952	1.00[EUR][1000 genomes]
rs59713643	1.00[EUR][1000 genomes]
rs60453415	1.00[EUR][1000 genomes]
rs60585939	1.00[EUR][1000 genomes]
rs61262459	1.00[EUR][1000 genomes]
rs6997963	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004573	1.00[EUR][1000 genomes]
rs9773138	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122132600-122142800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:122133200-122142000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:122139200-122141800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:122139400-122144000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:122140000-122141800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:122140000-122142000	Weak transcription	Fetal Lung	lung
7	chr8:122140600-122142400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:122140600-122143800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:122140800-122141800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:122141000-122143400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:122141200-122141800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:122141200-122143000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:122141200-122144000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:122141400-122141800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:122141400-122141800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:122141400-122141800	Enhancers	Osteobl	bone
17	chr8:122141400-122143000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:122141400-122143600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:122141400-122143800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr8:122141400-122143800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:122141400-122143800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:122141400-122144400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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