Variant report

Variant	rs2514658
Chromosome Location	chr8:105337871-105337872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:105337371..105338281-chr8:105504200..105504994,3	K562	blood:
2	chr8:105261888..105262834-chr8:105337720..105338325,2	MCF-7	breast:
3	chr8:105337797..105338457-chr8:105454352..105454951,2	K562	blood:
4	chr8:105337370..105338530-chr8:105401853..105402693,6	MCF-7	breast:
5	chr8:105337513..105338290-chr8:105504452..105505411,2	MCF-7	breast:
6	chr8:105337380..105338063-chr8:105454457..105455067,3	MCF-7	breast:
7	chr8:105142223..105142821-chr8:105337869..105338754,2	MCF-7	breast:
8	chr8:105337349..105338308-chr8:105454217..105455122,4	MCF-7	breast:
9	chr8:105337199..105338343-chr8:105429794..105430888,7	K562	blood:
10	chr11:47787172..47789747-chr8:105336978..105339290,2	MCF-7	breast:
11	chr8:105334748..105339134-chr8:105341304..105344043,3	K562	blood:
12	chr8:105337042..105339445-chr8:105429188..105431840,2	MCF-7	breast:
13	chr8:105337189..105338874-chr8:105429884..105430858,12	MCF-7	breast:
14	chr8:105336434..105338870-chr8:105429676..105431429,32	MCF-7	breast:
15	chr8:105337514..105338304-chr8:105428992..105429721,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147647	Chromatin interaction
ENSG00000109920	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2441873	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2458419	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2458422	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2458423	0.94[EUR][1000 genomes]
rs2458427	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2514653	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2514657	0.98[EUR][1000 genomes]
rs3039743	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105332200-105340800	Weak transcription	Spleen	Spleen
2	chr8:105332600-105341600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:105333000-105341000	Weak transcription	Primary B cells from cord blood	blood
4	chr8:105333600-105338000	Weak transcription	Lung	lung
5	chr8:105333600-105342400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:105334200-105338000	Weak transcription	Pancreas	Pancrea
7	chr8:105334600-105338000	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:105335400-105338000	Enhancers	Liver	Liver
9	chr8:105335400-105339800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:105335600-105338400	Enhancers	Ovary	ovary
11	chr8:105335800-105342000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:105336200-105338000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:105336200-105338000	Weak transcription	HepG2	liver
14	chr8:105336400-105342400	Weak transcription	K562	blood
15	chr8:105336600-105342400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:105336800-105338000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:105336800-105342400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:105336800-105342400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:105337000-105338000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:105337000-105338400	Enhancers	Colon Smooth Muscle	Colon
21	chr8:105337400-105338000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:105337400-105338400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:105337800-105338000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr8:105337800-105338000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:105337800-105338000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:105337800-105338000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:105337800-105338000	Active TSS	Brain Cingulate Gyrus	brain
28	chr8:105337800-105338000	Active TSS	Brain Hippocampus Middle	brain
29	chr8:105337800-105338000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:105337800-105338000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:105337800-105338200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr8:105337800-105338200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:105337800-105338200	Enhancers	Colonic Mucosa	Colon
34	chr8:105337800-105338200	Enhancers	Gastric	stomach
35	chr8:105337800-105338200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr8:105337800-105338200	Enhancers	Right Ventricle	heart
37	chr8:105337800-105338200	Enhancers	Stomach Mucosa	stomach
38	chr8:105337800-105338200	Enhancers	HMEC	breast
39	chr8:105337800-105338200	Enhancers	NHDF-Ad	bronchial
40	chr8:105337800-105338200	Enhancers	NHLF	lung
41	chr8:105337800-105338400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:105337800-105338400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:105337800-105338400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:105337800-105338400	Enhancers	Adipose Nuclei	Adipose
45	chr8:105337800-105338400	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr8:105337800-105338400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr8:105337800-105338400	Enhancers	Fetal Intestine Large	intestine
48	chr8:105337800-105338400	Enhancers	Placenta	Placenta
49	chr8:105337800-105338400	Active TSS	A549	lung
50	chr8:105337800-105338400	Active TSS	Osteobl	bone

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