Variant report

Variant	rs2458419
Chromosome Location	chr8:105337141-105337142
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:57915097..57915788-chr8:105336811..105337361,2	MCF-7	breast:
2	chr11:47787172..47789747-chr8:105336978..105339290,2	MCF-7	breast:
3	chr8:105334748..105339134-chr8:105341304..105344043,3	K562	blood:
4	chr8:105337042..105339445-chr8:105429188..105431840,2	MCF-7	breast:
5	chr8:105336434..105338870-chr8:105429676..105431429,32	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062716	Chromatin interaction
ENSG00000147647	Chromatin interaction
ENSG00000109920	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12681140	0.85[AFR][1000 genomes]
rs1812214	0.81[AFR][1000 genomes]
rs2441873	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2441896	0.86[AFR][1000 genomes]
rs2458422	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2458423	0.94[EUR][1000 genomes]
rs2458427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514653	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2514657	0.98[EUR][1000 genomes]
rs2514658	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3039743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4260866	0.94[EUR][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1032775	chr8:105311364-105409972	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105328800-105337800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:105332200-105340800	Weak transcription	Spleen	Spleen
3	chr8:105332400-105337800	Weak transcription	Fetal Thymus	thymus
4	chr8:105332600-105337800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:105332600-105341600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:105332800-105337800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:105333000-105341000	Weak transcription	Primary B cells from cord blood	blood
8	chr8:105333600-105338000	Weak transcription	Lung	lung
9	chr8:105333600-105342400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:105334000-105337800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:105334200-105338000	Weak transcription	Pancreas	Pancrea
12	chr8:105334400-105337800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:105334600-105337800	Weak transcription	Gastric	stomach
14	chr8:105334600-105338000	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:105335000-105337400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:105335400-105338000	Enhancers	Liver	Liver
17	chr8:105335400-105339800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:105335600-105337200	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr8:105335600-105338400	Enhancers	Ovary	ovary
20	chr8:105335800-105337400	Enhancers	Fetal Stomach	stomach
21	chr8:105335800-105337800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:105335800-105337800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:105335800-105342000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:105336200-105338000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:105336200-105338000	Weak transcription	HepG2	liver
26	chr8:105336400-105337800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:105336400-105342400	Weak transcription	K562	blood
28	chr8:105336600-105337600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:105336600-105337800	Weak transcription	Adipose Nuclei	Adipose
30	chr8:105336600-105342400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:105336800-105338000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:105336800-105342400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:105336800-105342400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:105337000-105338000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:105337000-105338400	Enhancers	Colon Smooth Muscle	Colon

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