Variant report

Variant	rs10957375
Chromosome Location	chr8:67355484-67355485
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	chr8:67351184..67354069-chr8:67354763..67356829,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10092482	0.80[EUR][1000 genomes]
rs10095148	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112574	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1030420	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775347	0.85[ASN][1000 genomes]
rs11780639	0.89[ASN][1000 genomes]
rs11986630	0.82[ASN][1000 genomes]
rs11991674	0.88[ASN][1000 genomes]
rs11998720	0.88[ASN][1000 genomes]
rs12335128	0.91[ASN][1000 genomes]
rs1978566	0.86[ASN][1000 genomes]
rs2303519	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3739334	0.91[ASN][1000 genomes]
rs3739337	0.89[ASN][1000 genomes]
rs7010700	0.88[ASN][1000 genomes]
rs7011134	0.88[ASN][1000 genomes]
rs7014273	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746149	0.94[ASN][1000 genomes]
rs7818340	0.85[ASN][1000 genomes]
rs890514	0.91[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10957375	C8orf46	cis	Adipose Subcutaneous	GTEx
rs10957375	C8orf46	cis	Nerve Tibial	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67352000-67358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:67352000-67363600	Weak transcription	Esophagus	oesophagus
3	chr8:67352200-67356200	Weak transcription	Liver	Liver
4	chr8:67352200-67357000	Weak transcription	Aorta	Aorta
5	chr8:67352200-67357400	Weak transcription	Brain Angular Gyrus	brain
6	chr8:67352200-67357800	Weak transcription	Left Ventricle	heart
7	chr8:67352200-67358000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:67352200-67358000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:67352200-67358000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:67352200-67358000	Weak transcription	Pancreas	Pancrea
11	chr8:67352200-67360200	Weak transcription	Lung	lung
12	chr8:67352200-67360200	Weak transcription	Ovary	ovary
13	chr8:67352200-67360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:67352200-67361000	Weak transcription	Spleen	Spleen
15	chr8:67352200-67361200	Weak transcription	Gastric	stomach
16	chr8:67352200-67361200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:67352200-67364600	Weak transcription	Psoas Muscle	Psoas
18	chr8:67352400-67356200	Weak transcription	Adipose Nuclei	Adipose
19	chr8:67352400-67357600	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:67352400-67357800	Weak transcription	Brain Anterior Caudate	brain
21	chr8:67352400-67358600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:67352400-67360200	Weak transcription	Right Ventricle	heart
23	chr8:67352400-67360800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:67352400-67361600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:67352400-67363600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:67352400-67366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:67352600-67357400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:67352600-67358200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:67352600-67363600	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:67352800-67356800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:67352800-67357400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:67352800-67358000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:67353000-67358000	Weak transcription	HSMMtube	muscle
34	chr8:67353200-67358400	Weak transcription	Fetal Heart	heart
35	chr8:67353200-67361000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:67353200-67361200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:67353400-67357600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:67353400-67357800	Weak transcription	GM12878-XiMat	blood
39	chr8:67353400-67358000	Weak transcription	HSMM	muscle
40	chr8:67353400-67358000	Weak transcription	Osteobl	bone
41	chr8:67353400-67358400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:67353400-67358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:67353400-67365400	Weak transcription	Fetal Brain Male	brain
44	chr8:67353400-67368000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:67353600-67357400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:67353600-67357600	Weak transcription	NHDF-Ad	bronchial
47	chr8:67353600-67358000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:67353600-67358000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:67353600-67360600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr8:67353600-67365200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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