Variant report

Variant	rs57031475
Chromosome Location	chr8:126381716-126381717
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126374530..126376049-chr8:126380618..126383134,2	K562	blood:
2	chr8:126375605..126377607-chr8:126380197..126382660,2	K562	blood:
3	chr8:126377962..126381819-chr8:126440507..126443718,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156831	Chromatin interaction
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73338898	1.00[AFR][1000 genomes]
rs73350810	1.00[AMR][1000 genomes]
rs7812636	1.00[AMR][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	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
2	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
2	chr8:126361800-126383200	Weak transcription	Psoas Muscle	Psoas
3	chr8:126367800-126381800	Weak transcription	HepG2	liver
4	chr8:126368200-126383200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:126369600-126382000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:126371200-126381800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:126372800-126382200	Weak transcription	Fetal Kidney	kidney
8	chr8:126372800-126383000	Weak transcription	Hela-S3	cervix
9	chr8:126372800-126383600	Weak transcription	Liver	Liver
10	chr8:126373000-126381800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:126374000-126381800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:126375200-126382000	Weak transcription	Gastric	stomach
13	chr8:126375200-126383000	Weak transcription	Aorta	Aorta
14	chr8:126375400-126382600	Weak transcription	Right Ventricle	heart
15	chr8:126375400-126383200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:126375400-126383600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:126375400-126383800	Weak transcription	Primary T cells from cord blood	blood
18	chr8:126375400-126383800	Weak transcription	NHLF	lung
19	chr8:126375400-126385800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:126375400-126391000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:126375600-126381800	Weak transcription	Placenta	Placenta
22	chr8:126375600-126383200	Weak transcription	HMEC	breast
23	chr8:126375600-126383800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:126375600-126383800	Weak transcription	NHEK	skin
25	chr8:126375800-126383000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:126375800-126383000	Weak transcription	HUVEC	blood vessel
27	chr8:126377400-126383000	Weak transcription	HSMMtube	muscle
28	chr8:126377600-126381800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:126377600-126383200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:126377600-126383200	Weak transcription	Osteobl	bone
31	chr8:126377600-126383800	Weak transcription	HSMM	muscle
32	chr8:126377600-126386200	Weak transcription	Ovary	ovary
33	chr8:126377800-126383200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:126379400-126382000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:126379400-126383400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:126379800-126382000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr8:126380000-126382000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:126380000-126382000	ZNF genes & repeats	Dnd41	blood
39	chr8:126380000-126382400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr8:126380200-126382400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:126380200-126385800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:126380400-126381800	Weak transcription	Thymus	Thymus
43	chr8:126380400-126383000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:126380400-126387400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:126380600-126381800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr8:126380600-126382400	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:126380600-126383200	Weak transcription	Fetal Lung	lung
48	chr8:126381000-126382400	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr8:126381200-126381800	ZNF genes & repeats	Fetal Muscle Leg	muscle
50	chr8:126381200-126381800	ZNF genes & repeats	A549	lung

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