Variant report

Variant	rs1808722
Chromosome Location	chr2:110345261-110345262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110344346..110345994-chr2:110371469..110373788,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198142	Chromatin interaction
ENSG00000186522	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1046645	0.95[ASN][1000 genomes]
rs11692886	0.88[ASN][1000 genomes]
rs28369323	0.81[EUR][1000 genomes]
rs28800201	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28853417	0.94[EUR][1000 genomes]
rs61215808	0.81[EUR][1000 genomes]
rs6594041	0.85[EUR][1000 genomes]
rs6713646	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6716287	0.81[EUR][1000 genomes]
rs6735752	0.85[EUR][1000 genomes]
rs6752531	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs717189	0.88[EUR][1000 genomes]
rs72938271	0.82[EUR][1000 genomes]
rs7572991	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs767628	0.81[EUR][1000 genomes]
rs892464	0.86[EUR][1000 genomes]
rs9751717	0.84[EUR][1000 genomes]
rs9752350	0.83[EUR][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	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1808722	ANKRD57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110293400-110352200	Weak transcription	Gastric	stomach
2	chr2:110297400-110351600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:110302200-110357600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:110308400-110363400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:110308600-110358600	Weak transcription	Small Intestine	intestine
6	chr2:110309000-110347400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:110309800-110351600	Weak transcription	Pancreas	Pancrea
8	chr2:110310200-110351600	Weak transcription	Fetal Brain Male	brain
9	chr2:110310400-110351600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:110310400-110351800	Weak transcription	Fetal Brain Female	brain
11	chr2:110310400-110353800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:110310400-110363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:110318200-110348400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:110319200-110367400	Weak transcription	HSMMtube	muscle
15	chr2:110319400-110358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:110320600-110354600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:110323400-110348000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:110323400-110348200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:110324000-110348400	Weak transcription	Hela-S3	cervix
20	chr2:110324000-110370400	Weak transcription	Esophagus	oesophagus
21	chr2:110324200-110348600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:110324600-110362200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:110328800-110349000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:110329000-110369000	Weak transcription	Ovary	ovary
25	chr2:110329200-110359400	Weak transcription	NHLF	lung
26	chr2:110329200-110369400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:110329400-110359600	Weak transcription	NHDF-Ad	bronchial
28	chr2:110329600-110351200	Weak transcription	HMEC	breast
29	chr2:110329600-110351600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:110329800-110351600	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:110332000-110348200	Weak transcription	Right Ventricle	heart
32	chr2:110332200-110352600	Weak transcription	Fetal Lung	lung
33	chr2:110335600-110346600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:110336600-110348600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:110338600-110354600	Weak transcription	Right Atrium	heart
36	chr2:110338600-110357600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:110338800-110348200	Weak transcription	Lung	lung
38	chr2:110338800-110352600	Weak transcription	Fetal Intestine Large	intestine
39	chr2:110339000-110346600	Weak transcription	Fetal Stomach	stomach
40	chr2:110340200-110346600	Weak transcription	Fetal Intestine Small	intestine
41	chr2:110341000-110351600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:110341600-110349200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:110341600-110359400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:110341800-110346600	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:110341800-110346600	Weak transcription	GM12878-XiMat	blood
46	chr2:110341800-110347200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:110341800-110348000	Weak transcription	Placenta	Placenta
48	chr2:110341800-110348600	Weak transcription	Fetal Heart	heart
49	chr2:110341800-110359000	Weak transcription	Fetal Kidney	kidney
50	chr2:110342800-110351600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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