Variant report

Variant	rs73338863
Chromosome Location	chr8:126369300-126369301
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	chr8:126367782..126370387-chr8:126440468..126442210,2	K562	blood:
2	chr8:126362447..126364005-chr8:126367534..126370011,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254431	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs60368750	0.85[AFR][1000 genomes]
rs73336884	0.85[AFR][1000 genomes]
rs73336887	0.85[AFR][1000 genomes]
rs73338849	0.85[AFR][1000 genomes]
rs73338850	0.85[AFR][1000 genomes]
rs73338855	0.85[AFR][1000 genomes]
rs73338856	0.85[AFR][1000 genomes]
rs73338858	0.85[AFR][1000 genomes]
rs73338860	0.82[AFR][1000 genomes]
rs73338869	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv2761467	chr8:126368375-126385095	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
2	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
3	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:126348800-126369800	Weak transcription	Gastric	stomach
5	chr8:126353200-126369600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:126354000-126381200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:126354800-126371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:126354800-126379800	Weak transcription	Pancreas	Pancrea
9	chr8:126354800-126380400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:126354800-126381600	Weak transcription	Brain Anterior Caudate	brain
11	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
12	chr8:126355000-126369400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:126355000-126369600	Weak transcription	Fetal Intestine Large	intestine
14	chr8:126355000-126374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:126355200-126369400	Weak transcription	Left Ventricle	heart
16	chr8:126355200-126369400	Weak transcription	Spleen	Spleen
17	chr8:126355200-126369400	Weak transcription	K562	blood
18	chr8:126355200-126369800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:126355200-126373000	Weak transcription	NH-A	brain
20	chr8:126355200-126374800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:126355200-126374800	Weak transcription	HMEC	breast
22	chr8:126355200-126378800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:126355400-126369600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:126355600-126369400	Weak transcription	Adipose Nuclei	Adipose
25	chr8:126355600-126374200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:126355600-126374400	Weak transcription	NHLF	lung
27	chr8:126355600-126374600	Weak transcription	NHDF-Ad	bronchial
28	chr8:126355600-126375200	Weak transcription	Small Intestine	intestine
29	chr8:126355800-126369400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:126356000-126370800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:126356800-126372000	Weak transcription	Liver	Liver
32	chr8:126358000-126369400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:126358800-126369400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr8:126358800-126376800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr8:126359400-126372200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:126359600-126371800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:126359800-126369400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:126359800-126369400	Weak transcription	Fetal Lung	lung
39	chr8:126360400-126370200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:126360600-126369400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:126361400-126372000	Weak transcription	Fetal Kidney	kidney
42	chr8:126361600-126369400	Weak transcription	Dnd41	blood
43	chr8:126361800-126371600	Weak transcription	Fetal Intestine Small	intestine
44	chr8:126361800-126372000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:126361800-126383200	Weak transcription	Psoas Muscle	Psoas
46	chr8:126362200-126369800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr8:126362200-126370000	Weak transcription	Hela-S3	cervix
48	chr8:126362400-126371800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:126362600-126369400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:126362600-126372800	Weak transcription	Muscle Satellite Cultured Cells	--

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