Variant report

Variant	rs2929117
Chromosome Location	chr8:39898126-39898127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:39895651..39897213-chr8:39897481..39900329,2	MCF-7	breast:
2	chr8:39897663..39901671-chr8:39911802..39914452,3	MCF-7	breast:
3	chr8:39895604..39898278-chr8:40014313..40017201,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10958586	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3892719	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4428659	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4503083	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57313326	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62511408	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62511443	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62513280	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62513281	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62513282	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62513283	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39891400-39898400	Weak transcription	Pancreas	Pancrea
2	chr8:39892600-39898200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:39893600-39898400	Weak transcription	Liver	Liver
4	chr8:39893600-39898400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:39895000-39900000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:39895400-39899600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:39895800-39899200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:39896000-39898400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:39896200-39898600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:39896400-39898600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:39896800-39899400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr8:39896800-39899600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:39896800-39899600	Enhancers	Fetal Lung	lung
14	chr8:39897000-39899200	Enhancers	Fetal Intestine Small	intestine
15	chr8:39897200-39899600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:39897400-39899200	Enhancers	Fetal Intestine Large	intestine
17	chr8:39897400-39901200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:39897600-39898400	Enhancers	Aorta	Aorta
19	chr8:39897600-39898400	Enhancers	Fetal Stomach	stomach
20	chr8:39897600-39899000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:39897600-39899800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:39897600-39903400	Enhancers	HepG2	liver
23	chr8:39897800-39898600	Enhancers	A549	lung
24	chr8:39897800-39898600	Enhancers	Hela-S3	cervix
25	chr8:39897800-39899000	Enhancers	Colon Smooth Muscle	Colon
26	chr8:39897800-39899000	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:39897800-39899000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr8:39897800-39899000	Enhancers	Rectal Smooth Muscle	rectum
29	chr8:39897800-39899200	Enhancers	NHDF-Ad	bronchial
30	chr8:39898000-39899000	Weak transcription	Placenta	Placenta
31	chr8:39898000-39899200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:39898000-39899200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:39898000-39899200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:39898000-39899200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:39898000-39899400	Enhancers	NHLF	lung
36	chr8:39898000-39899600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr8:39898000-39899800	Enhancers	Stomach Mucosa	stomach

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