Variant report

Variant	rs4428656
Chromosome Location	chr8:124936660-124936661
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124936523..124937593-chr8:125042310..125043251,3	MCF-7	breast:
2	chr8:124936624..124937570-chr8:125452317..125453197,2	MCF-7	breast:
3	chr8:124936630..124937556-chr8:125452696..125453272,2	MCF-7	breast:
4	chr8:124936587..124937523-chr8:125018562..125019630,6	MCF-7	breast:
5	chr8:124934852..124937473-chr8:124945543..124947894,2	K562	blood:
6	chr8:124936424..124937127-chr8:125049695..125050484,2	MCF-7	breast:
7	chr8:124835624..124840070-chr8:124931025..124937507,8	MCF-7	breast:
8	chr8:124936621..124937399-chr8:125022189..125023311,6	MCF-7	breast:
9	chr8:124936483..124937594-chr8:125017986..125019533,17	MCF-7	breast:
10	chr8:124936640..124937564-chr8:125437980..125438905,3	MCF-7	breast:
11	chr8:124936586..124937490-chr8:125244653..125245170,2	K562	blood:
12	chr8:124935254..124937555-chr8:124966756..124968596,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214814	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1007106	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11993828	0.88[ASN][1000 genomes]
rs13250190	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13260673	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13267281	0.88[ASN][1000 genomes]
rs13268486	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16899052	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16899082	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16899083	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34273310	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35365805	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35856179	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36044469	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242350	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242351	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4285467	0.88[ASN][1000 genomes]
rs4285468	0.88[ASN][1000 genomes]
rs4299983	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4299984	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4410887	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4413758	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4472497	0.89[ASN][1000 genomes]
rs4478556	0.88[ASN][1000 genomes]
rs4492357	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4512365	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4537289	0.88[ASN][1000 genomes]
rs4587311	0.88[ASN][1000 genomes]
rs4587312	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4590427	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870878	0.88[ASN][1000 genomes]
rs4870879	0.88[ASN][1000 genomes]
rs4871428	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871429	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871430	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871431	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871432	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871433	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871434	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871435	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871436	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871437	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871439	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55653196	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57615673	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59381180	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62518695	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62518696	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62518727	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62518728	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6981056	0.81[EUR][1000 genomes]
rs6982351	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6984557	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72709124	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7464664	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7826291	0.85[ASN][1000 genomes]
rs7838437	0.83[ASN][1000 genomes]
rs7838453	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7838473	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7839327	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7842762	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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	nsv1033617	chr8:124895516-125012783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035035	chr8:124895516-125020472	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv612141	chr8:124895809-125006490	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv612142	chr8:124896389-125006490	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv612143	chr8:124927711-124988267	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124934800-124937400	Weak transcription	Brain Germinal Matrix	brain
2	chr8:124934800-124938200	Enhancers	Fetal Muscle Leg	muscle
3	chr8:124934800-124938600	Weak transcription	Left Ventricle	heart
4	chr8:124934800-124939000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:124934800-124939600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:124935000-124936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:124935000-124936800	Weak transcription	Liver	Liver
8	chr8:124935000-124937000	Weak transcription	A549	lung
9	chr8:124935000-124937400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:124935000-124938600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:124935200-124936800	Weak transcription	NHDF-Ad	bronchial
12	chr8:124935200-124937000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:124935200-124937000	Weak transcription	Fetal Heart	heart
14	chr8:124935200-124937200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:124935200-124937400	Weak transcription	NHLF	lung
16	chr8:124935200-124938800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:124935400-124936800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:124935400-124936800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:124935400-124936800	Weak transcription	HSMM	muscle
20	chr8:124935400-124937800	Weak transcription	Stomach Mucosa	stomach
21	chr8:124935400-124938200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:124935400-124938200	Weak transcription	Placenta	Placenta
23	chr8:124935400-124938600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:124935400-124942800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:124935600-124936800	Weak transcription	K562	blood
26	chr8:124935600-124937000	Weak transcription	HUVEC	blood vessel
27	chr8:124935800-124937000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:124935800-124937000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:124935800-124939200	Weak transcription	Fetal Intestine Small	intestine
30	chr8:124936000-124937000	Weak transcription	Fetal Intestine Large	intestine
31	chr8:124936600-124938400	Enhancers	Primary neutrophils fromperipheralblood	blood

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