Variant report

Variant	rs34481015
Chromosome Location	chr2:20313102-20313103
allele	A/C
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	chr2:20311588..20314270-chr2:20375383..20376972,2	MCF-7	breast:
2	chr2:20312716..20316154-chr2:20394135..20396612,3	MCF-7	breast:
3	chr2:20312519..20315301-chr2:20382441..20384884,2	MCF-7	breast:
4	chr2:20311235..20314165-chr2:20429589..20432745,4	MCF-7	breast:
5	chr2:20302713..20305705-chr2:20312784..20315987,4	MCF-7	breast:
6	chr2:20309388..20317484-chr2:20420940..20426619,17	MCF-7	breast:
7	chr2:20312607..20315159-chr2:20320979..20324527,5	MCF-7	breast:
8	chr2:20309325..20314922-chr2:20379425..20384303,7	MCF-7	breast:
9	chr2:20311719..20314183-chr2:20423425..20424931,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115884	Chromatin interaction
ENSG00000200763	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10208355	0.80[EUR][1000 genomes]
rs11096639	0.84[EUR][1000 genomes]
rs11679737	0.89[EUR][1000 genomes]
rs11685788	0.85[AMR][1000 genomes]
rs11690530	0.89[EUR][1000 genomes]
rs11692546	0.86[EUR][1000 genomes]
rs13391566	0.80[EUR][1000 genomes]
rs34367401	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61418833	0.82[AFR][1000 genomes]
rs6531204	0.82[EUR][1000 genomes]
rs6531205	0.82[EUR][1000 genomes]
rs66598678	0.84[EUR][1000 genomes]
rs6709349	0.82[EUR][1000 genomes]
rs73223878	0.82[AFR][1000 genomes]
rs73223879	0.82[AFR][1000 genomes]
rs73223886	0.82[AFR][1000 genomes]
rs73223888	0.82[AFR][1000 genomes]
rs7582437	0.80[EUR][1000 genomes]
rs907864	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34481015	AC098828.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20306600-20318400	Enhancers	Placenta	Placenta
2	chr2:20306800-20318200	Weak transcription	Right Ventricle	heart
3	chr2:20308000-20322200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:20309000-20313200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:20309000-20315400	Weak transcription	Hela-S3	cervix
6	chr2:20310000-20313400	Weak transcription	NHEK	skin
7	chr2:20310200-20313400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:20310200-20313400	Weak transcription	HMEC	breast
9	chr2:20310600-20314000	Weak transcription	Gastric	stomach
10	chr2:20311000-20313200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:20311600-20313200	Weak transcription	Left Ventricle	heart
12	chr2:20311600-20314200	Weak transcription	Small Intestine	intestine
13	chr2:20311600-20314400	Weak transcription	Colonic Mucosa	Colon
14	chr2:20311800-20313200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:20311800-20315600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:20312000-20314000	Enhancers	HepG2	liver
17	chr2:20312400-20316600	Enhancers	Esophagus	oesophagus
18	chr2:20312800-20316800	Enhancers	Fetal Intestine Large	intestine
19	chr2:20313000-20313600	Enhancers	Pancreas	Pancrea
20	chr2:20313000-20314000	Enhancers	Duodenum Mucosa	Duodenum
21	chr2:20313000-20315000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:20313000-20316200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:20313000-20316600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:20313000-20316800	Enhancers	Fetal Intestine Small	intestine
25	chr2:20313000-20317000	Enhancers	Stomach Mucosa	stomach

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