Variant report

Variant	rs4871385
Chromosome Location	chr8:124553222-124553223
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124551934..124554097-chr8:124626463..124629241,3	MCF-7	breast:
2	chr8:124542682..124546202-chr8:124550886..124554262,4	MCF-7	breast:
3	chr8:124509786..124511440-chr8:124550699..124553342,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156804	Chromatin interaction
ENSG00000253286	Chromatin interaction

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

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

rs_ID	r²[population]
rs28578258	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28627713	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4871384	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4871387	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4871388	1.00[CHB][hapmap]
rs4871389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs62518431	0.84[ASN][1000 genomes]
rs62521293	1.00[ASN][1000 genomes]
rs7821824	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7835433	0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124548600-124554000	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr8:124548800-124554400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:124549800-124553800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:124550000-124554000	Active TSS	Thymus	Thymus
5	chr8:124550200-124554600	Active TSS	Fetal Brain Female	brain
6	chr8:124550400-124553400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
7	chr8:124550600-124554200	Active TSS	HSMMtube	muscle
8	chr8:124550800-124554200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr8:124550800-124554200	Active TSS	Aorta	Aorta
10	chr8:124550800-124554200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:124550800-124554400	Active TSS	Ovary	ovary
12	chr8:124550800-124554400	Active TSS	Psoas Muscle	Psoas
13	chr8:124551200-124554000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:124551200-124554000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr8:124551200-124554200	Active TSS	Brain Anterior Caudate	brain
16	chr8:124551200-124554200	Active TSS	Brain Substantia Nigra	brain
17	chr8:124551400-124554000	Active TSS	NHDF-Ad	bronchial
18	chr8:124551400-124554200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:124551400-124554200	Active TSS	Right Ventricle	heart
20	chr8:124551600-124554000	Active TSS	Brain Cingulate Gyrus	brain
21	chr8:124551600-124554000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr8:124552000-124553400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:124552000-124553400	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
24	chr8:124552000-124553800	Active TSS	Placenta Amnion	Placenta Amnion
25	chr8:124552000-124554200	Active TSS	Colon Smooth Muscle	Colon
26	chr8:124552000-124554200	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr8:124552000-124554200	Active TSS	Small Intestine	intestine
28	chr8:124552000-124554400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr8:124552000-124554600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr8:124552200-124553400	Active TSS	Primary B cells from cord blood	blood
31	chr8:124552200-124553400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:124552200-124554200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr8:124552200-124554200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:124552200-124554200	Bivalent/Poised TSS	HepG2	liver
35	chr8:124552200-124554200	Active TSS	NHLF	lung
36	chr8:124552200-124554400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr8:124552400-124554000	Active TSS	Osteobl	bone
38	chr8:124552400-124554200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr8:124552400-124554200	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr8:124552400-124554200	Active TSS	Brain Angular Gyrus	brain
41	chr8:124552400-124554200	Active TSS	Duodenum Mucosa	Duodenum
42	chr8:124552400-124554200	Active TSS	Gastric	stomach
43	chr8:124552400-124554200	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr8:124552400-124554400	Active TSS	Right Atrium	heart
45	chr8:124552600-124553600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr8:124552600-124553800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:124552600-124553800	Active TSS	Liver	Liver
48	chr8:124552600-124553800	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr8:124552600-124553800	Active TSS	Stomach Smooth Muscle	stomach
50	chr8:124552600-124553800	Active TSS	HSMM	muscle

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