Variant report

Variant	rs58650877
Chromosome Location	chr8:126361863-126361864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126360008..126362836-chr8:126364930..126366678,2	K562	blood:
2	chr8:126359782..126362737-chr8:126363798..126365592,2	MCF-7	breast:
3	chr8:126361514..126365167-chr8:126440219..126443605,3	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17318327	0.92[ASN][1000 genomes]
rs17403341	0.92[ASN][1000 genomes]
rs4006653	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60652599	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651234	1.00[ASN][1000 genomes]
rs6651235	1.00[ASN][1000 genomes]
rs6651236	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6651237	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004876	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73336867	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338880	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338881	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338901	1.00[ASN][1000 genomes]
rs7824635	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
2	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
4	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:126344600-126362400	Weak transcription	Primary T cells from cord blood	blood
6	chr8:126348800-126369800	Weak transcription	Gastric	stomach
7	chr8:126352200-126362000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:126352200-126363000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:126353200-126369600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:126353600-126365000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:126354000-126381200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:126354800-126369000	Weak transcription	Ovary	ovary
13	chr8:126354800-126371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:126354800-126379800	Weak transcription	Pancreas	Pancrea
15	chr8:126354800-126380400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:126354800-126381600	Weak transcription	Brain Anterior Caudate	brain
17	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
18	chr8:126355000-126365000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:126355000-126369400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:126355000-126369600	Weak transcription	Fetal Intestine Large	intestine
21	chr8:126355000-126374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:126355200-126362400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:126355200-126369400	Weak transcription	Left Ventricle	heart
24	chr8:126355200-126369400	Weak transcription	Spleen	Spleen
25	chr8:126355200-126369400	Weak transcription	K562	blood
26	chr8:126355200-126369800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:126355200-126373000	Weak transcription	NH-A	brain
28	chr8:126355200-126374800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:126355200-126374800	Weak transcription	HMEC	breast
30	chr8:126355200-126378800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:126355400-126362400	Weak transcription	Thymus	Thymus
32	chr8:126355400-126366800	Weak transcription	HepG2	liver
33	chr8:126355400-126369600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:126355600-126365000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:126355600-126369200	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:126355600-126369400	Weak transcription	Adipose Nuclei	Adipose
37	chr8:126355600-126374200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:126355600-126374400	Weak transcription	NHLF	lung
39	chr8:126355600-126374600	Weak transcription	NHDF-Ad	bronchial
40	chr8:126355600-126375200	Weak transcription	Small Intestine	intestine
41	chr8:126355800-126369400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:126356000-126370800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:126356200-126363600	Weak transcription	Lung	lung
44	chr8:126356400-126362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:126356400-126362400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr8:126356800-126364400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:126356800-126372000	Weak transcription	Liver	Liver
48	chr8:126358000-126369400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:126358200-126369200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:126358800-126369400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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