Variant report

Variant	rs2053934
Chromosome Location	chr8:99203508-99203509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99202505..99204170-chr8:99218597..99220761,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10103268	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10107699	0.90[ASW][hapmap];0.90[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13439613	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896762	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2122930	0.90[ASW][hapmap];0.95[CEU][hapmap];0.88[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6468625	0.86[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6982456	0.95[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7006240	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7010905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820126	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7841749	0.90[ASW][hapmap];0.95[CEU][hapmap];0.88[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891216	chr8:99153160-99209248	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2053934	UQCRB	cis	cerebellum	SCAN
rs2053934	NIPAL2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99191600-99243800	Weak transcription	Spleen	Spleen
2	chr8:99192200-99205800	Weak transcription	Fetal Intestine Small	intestine
3	chr8:99192200-99210600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:99192200-99214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:99192800-99210400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:99193400-99206400	Weak transcription	Pancreas	Pancrea
7	chr8:99194800-99216600	Weak transcription	Colonic Mucosa	Colon
8	chr8:99196400-99204800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:99197000-99204800	Weak transcription	Fetal Intestine Large	intestine
10	chr8:99197000-99205000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:99197000-99209200	Weak transcription	HSMMtube	muscle
12	chr8:99197000-99210400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:99197000-99219000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:99197400-99206200	Weak transcription	Aorta	Aorta
15	chr8:99197400-99206200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:99197800-99204800	Weak transcription	Right Atrium	heart
17	chr8:99197800-99215400	Weak transcription	Fetal Stomach	stomach
18	chr8:99198000-99210400	Weak transcription	Osteobl	bone
19	chr8:99198000-99217000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:99198200-99207200	Weak transcription	Esophagus	oesophagus
21	chr8:99198200-99215200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:99198200-99239200	Weak transcription	Lung	lung
23	chr8:99198400-99204800	Weak transcription	Ovary	ovary
24	chr8:99201800-99214400	Weak transcription	Left Ventricle	heart
25	chr8:99202000-99215200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:99202000-99215200	Weak transcription	NHDF-Ad	bronchial
27	chr8:99202800-99203600	Enhancers	Adipose Nuclei	Adipose
28	chr8:99203000-99203800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:99203000-99204800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:99203200-99204800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:99203400-99204600	Weak transcription	Fetal Heart	heart

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