Variant report

Variant	rs7387895
Chromosome Location	chr8:125383712-125383713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124778955..124781096-chr8:125382427..125384445,2	MCF-7	breast:
2	chr8:125380396..125382052-chr8:125382659..125384185,2	K562	blood:
3	chr8:125283455..125287567-chr8:125381773..125385340,3	MCF-7	breast:
4	chr8:125052149..125053721-chr8:125383460..125385142,2	MCF-7	breast:
5	chr8:125373697..125375415-chr8:125381525..125384345,2	MCF-7	breast:
6	chr8:125052912..125056665-chr8:125383684..125385533,3	MCF-7	breast:
7	chr8:125151766..125155460-chr8:125383526..125385815,4	MCF-7	breast:
8	chr8:125283009..125285432-chr8:125382555..125384066,2	MCF-7	breast:
9	chr8:125383681..125384360-chr8:125437557..125438176,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253227	Chromatin interaction
ENSG00000254249	Chromatin interaction
ENSG00000250727	Chromatin interaction
ENSG00000181171	Chromatin interaction
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12056758	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12114111	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28773576	0.85[EUR][1000 genomes]
rs28864761	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28883585	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4612323	0.97[EUR][1000 genomes]
rs61565932	0.85[EUR][1000 genomes]
rs72711166	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72711168	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72711169	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72711174	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72711185	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72711202	0.99[EUR][1000 genomes]
rs72713207	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7387220	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7388170	0.89[EUR][1000 genomes]
rs7388224	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7829851	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9643193	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3437541	chr8:125382796-125386144	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv3398602	chr8:125383071-125386069	Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125381000-125383800	Active TSS	Fetal Heart	heart
2	chr8:125381000-125385800	Active TSS	Right Ventricle	heart
3	chr8:125381600-125385600	Active TSS	Fetal Brain Female	brain
4	chr8:125382000-125383800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:125382000-125383800	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr8:125382000-125383800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr8:125382000-125385600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:125382000-125385600	Active TSS	Psoas Muscle	Psoas
9	chr8:125382200-125385200	Active TSS	Primary T cells fromperipheralblood	blood
10	chr8:125382200-125385400	Active TSS	Duodenum Mucosa	Duodenum
11	chr8:125382200-125385400	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr8:125382200-125385400	Active TSS	GM12878-XiMat	blood
13	chr8:125382200-125385600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:125382200-125385600	Active TSS	A549	lung
15	chr8:125382200-125385800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:125382400-125383800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr8:125382400-125383800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr8:125382400-125385200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:125382400-125385200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:125382600-125383800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr8:125382600-125383800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:125382600-125383800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr8:125382600-125383800	Flanking Active TSS	Fetal Lung	lung
24	chr8:125382600-125383800	Flanking Active TSS	Osteobl	bone
25	chr8:125382600-125384000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr8:125382600-125385400	Active TSS	HSMMtube	muscle
27	chr8:125382600-125385800	Active TSS	Brain Hippocampus Middle	brain
28	chr8:125382600-125385800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr8:125382600-125385800	Active TSS	Stomach Smooth Muscle	stomach
30	chr8:125382800-125383800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:125382800-125383800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr8:125382800-125383800	Flanking Active TSS	Liver	Liver
33	chr8:125382800-125385000	Active TSS	Fetal Stomach	stomach
34	chr8:125382800-125385200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:125382800-125385400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:125382800-125385400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr8:125382800-125385400	Active TSS	HSMM	muscle
38	chr8:125382800-125385600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:125382800-125385600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:125382800-125385600	Active TSS	Left Ventricle	heart
41	chr8:125382800-125385600	Active TSS	Ovary	ovary
42	chr8:125382800-125385600	Active TSS	Rectal Smooth Muscle	rectum
43	chr8:125382800-125385800	Active TSS	Brain Anterior Caudate	brain
44	chr8:125382800-125385800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:125382800-125385800	Active TSS	Fetal Kidney	kidney
46	chr8:125383000-125383800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr8:125383000-125383800	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr8:125383000-125383800	Flanking Active TSS	Fetal Brain Male	brain
49	chr8:125383000-125385400	Active TSS	H1 Cell Line	embryonic stem cell
50	chr8:125383000-125385400	Active TSS	Rectal Mucosa Donor 31	rectum

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