Variant report

Variant	rs9650084
Chromosome Location	chr8:124604759-124604760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124596927..124598832-chr8:124603529..124605286,2	MCF-7	breast:
2	chr8:124603169..124606438-chr8:124607098..124610050,3	MCF-7	breast:
3	chr8:124600695..124604171-chr8:124604350..124608237,3	MCF-7	breast:
4	chr8:124597730..124602025-chr8:124602614..124604798,3	K562	blood:

Variant related genes	Relation type
ENSG00000251840	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11986010	1.00[ASN][1000 genomes]
rs11986300	1.00[ASN][1000 genomes]
rs11992825	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996069	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13439060	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28499300	0.89[EUR][1000 genomes]
rs41483948	1.00[CHB][hapmap]
rs57385663	1.00[ASN][1000 genomes]
rs59488911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62520915	1.00[ASN][1000 genomes]
rs62521280	1.00[ASN][1000 genomes]
rs62521282	1.00[ASN][1000 genomes]
rs62521283	1.00[ASN][1000 genomes]
rs7000759	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7006420	0.94[EUR][1000 genomes];1.00[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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124599400-124604800	Enhancers	Stomach Smooth Muscle	stomach
2	chr8:124599400-124605000	Enhancers	Colon Smooth Muscle	Colon
3	chr8:124599600-124606200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr8:124601200-124605000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:124601400-124605400	Enhancers	NHDF-Ad	bronchial
6	chr8:124601400-124607200	Enhancers	Osteobl	bone
7	chr8:124602000-124605400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:124602400-124605400	Weak transcription	Right Ventricle	heart
9	chr8:124602400-124609000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:124603200-124604800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:124603400-124604800	Enhancers	Aorta	Aorta
12	chr8:124603400-124604800	Enhancers	Fetal Lung	lung
13	chr8:124603400-124605200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:124603400-124605600	Enhancers	NHLF	lung
15	chr8:124603800-124604800	Enhancers	Ovary	ovary
16	chr8:124604000-124605000	Enhancers	Right Atrium	heart
17	chr8:124604000-124605200	Enhancers	NHEK	skin
18	chr8:124604200-124604800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:124604200-124605400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:124604200-124605600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:124604200-124606400	Enhancers	K562	blood
22	chr8:124604200-124606800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:124604400-124604800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:124604400-124604800	Flanking Active TSS	HMEC	breast
25	chr8:124604400-124605000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:124604400-124605000	Enhancers	Psoas Muscle	Psoas
27	chr8:124604400-124605000	Enhancers	HSMM	muscle
28	chr8:124604400-124605200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:124604400-124605800	Enhancers	Fetal Stomach	stomach
30	chr8:124604400-124607200	Enhancers	HSMMtube	muscle
31	chr8:124604400-124609200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:124604600-124604800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:124604600-124604800	Enhancers	Adipose Nuclei	Adipose
34	chr8:124604600-124604800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:124604600-124605000	Enhancers	Pancreas	Pancrea

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