Variant report

Variant	rs28668220
Chromosome Location	chr8:131694705-131694706
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	chr17:59938342..59941056-chr8:131692920..131695356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136492	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10094193	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10101684	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1509845	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1509846	0.83[ASN][1000 genomes]
rs1553792	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17222937	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17314117	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28391516	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28692725	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4628270	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4736578	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6991517	0.85[ASN][1000 genomes]
rs72728277	0.89[ASN][1000 genomes]
rs72728279	0.83[ASN][1000 genomes]
rs72728282	0.87[ASN][1000 genomes]
rs9649964	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9650110	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs978494	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915864	chr8:131509799-131754822	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2752684	chr8:131641096-131710094	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131686200-131694800	Weak transcription	Esophagus	oesophagus
2	chr8:131688200-131694800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr8:131692800-131696400	Weak transcription	Brain Germinal Matrix	brain
4	chr8:131693400-131696600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:131694000-131704400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:131694200-131694800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:131694200-131695200	Enhancers	Fetal Muscle Leg	muscle
8	chr8:131694200-131695400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:131694400-131694800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr8:131694400-131694800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:131694400-131694800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:131694400-131694800	Enhancers	Brain Substantia Nigra	brain
13	chr8:131694400-131694800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:131694400-131694800	Enhancers	Ovary	ovary
15	chr8:131694400-131695000	Active TSS	Fetal Muscle Trunk	muscle
16	chr8:131694400-131695200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:131694400-131695200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:131694400-131695200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:131694400-131695200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:131694400-131695200	Enhancers	HSMM	muscle
21	chr8:131694400-131695200	Enhancers	HSMMtube	muscle
22	chr8:131694400-131695200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr8:131694400-131695200	Flanking Active TSS	NHDF-Ad	bronchial
24	chr8:131694400-131695200	Flanking Active TSS	NHEK	skin
25	chr8:131694400-131695400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:131694400-131695400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:131694400-131695400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:131694400-131695400	Enhancers	Pancreas	Pancrea
29	chr8:131694400-131695400	Flanking Active TSS	A549	lung
30	chr8:131694400-131695400	Enhancers	HepG2	liver
31	chr8:131694400-131695600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:131694400-131695600	Enhancers	Spleen	Spleen
33	chr8:131694400-131697600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:131694600-131694800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:131694600-131694800	Enhancers	Brain Anterior Caudate	brain
36	chr8:131694600-131694800	Enhancers	Brain Hippocampus Middle	brain
37	chr8:131694600-131694800	Active TSS	Stomach Smooth Muscle	stomach
38	chr8:131694600-131694800	Flanking Active TSS	K562	blood
39	chr8:131694600-131695000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:131694600-131695000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr8:131694600-131695000	Active TSS	NH-A	brain
42	chr8:131694600-131695200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:131694600-131695200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:131694600-131695200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr8:131694600-131695200	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr8:131694600-131695200	Active TSS	Duodenum Mucosa	Duodenum
47	chr8:131694600-131695200	Flanking Active TSS	HMEC	breast
48	chr8:131694600-131695200	Enhancers	HUVEC	blood vessel
49	chr8:131694600-131695200	Active TSS	NHLF	lung
50	chr8:131694600-131695200	Flanking Active TSS	Osteobl	bone

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