Variant report

Variant	rs880872
Chromosome Location	chr2:85943766-85943767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85941112..85944242-chr2:85945842..85948682,3	MCF-7	breast:
2	chr2:85843227..85844998-chr2:85942252..85944879,2	K562	blood:
3	chr2:85939322..85942030-chr2:85943448..85946013,3	K562	blood:
4	chr2:85934009..85937395-chr2:85940314..85944557,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168883	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10180391	0.80[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10180445	0.82[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10180451	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10180547	0.80[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10187164	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10187314	0.81[ASN][1000 genomes]
rs10187495	0.91[ASN][1000 genomes]
rs10192752	0.80[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10203826	0.80[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10206121	0.80[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10210321	0.82[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11127	0.82[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12620113	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12714150	0.81[ASN][1000 genomes]
rs12845	0.80[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs13389847	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13408224	0.90[ASN][1000 genomes]
rs1437742	0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1437743	0.82[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1437744	0.80[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1437745	0.80[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1561284	0.80[CEU][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1561285	0.80[CEU][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1837115	0.80[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1866138	0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1866139	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1866140	0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1866141	0.80[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2070966	0.80[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2118402	0.92[ASN][1000 genomes]
rs2366807	0.82[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2886767	0.82[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2886768	0.90[ASN][1000 genomes]
rs34218330	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34702373	0.96[ASN][1000 genomes]
rs34771575	0.88[ASN][1000 genomes]
rs34943381	0.82[ASN][1000 genomes]
rs35616630	0.81[AMR][1000 genomes]
rs3755007	0.87[ASN][1000 genomes]
rs4240200	0.80[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs4240201	0.82[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4240202	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4832181	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs4832183	0.81[JPT][hapmap]
rs4832185	0.91[ASN][1000 genomes]
rs4832187	0.82[ASN][1000 genomes]
rs55665393	0.83[ASN][1000 genomes]
rs59832218	0.84[ASN][1000 genomes]
rs61191323	0.91[ASN][1000 genomes]
rs62163092	0.85[ASN][1000 genomes]
rs6740635	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7585576	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7908	0.80[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.91[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	nsv874463	chr2:85853653-85946708	Strong transcription Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv874467	chr2:85916487-85946708	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs880872	AC012454.4	cis	Whole Blood	GTEx
rs880872	ATOH8	cis	Whole Blood	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85926000-85945200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:85932800-85946600	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:85937800-85944800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:85939200-85946600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:85940000-85944000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:85940200-85946600	Weak transcription	Primary B cells from cord blood	blood
7	chr2:85940200-85947800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:85940600-85946000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:85940800-85944800	Weak transcription	Placenta	Placenta
10	chr2:85941200-85944600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:85941200-85967400	Weak transcription	Esophagus	oesophagus
12	chr2:85941400-85944600	Weak transcription	Gastric	stomach
13	chr2:85941400-85946000	Weak transcription	Pancreas	Pancrea
14	chr2:85941400-85946000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:85941400-85946200	Weak transcription	Ovary	ovary
16	chr2:85941400-85946400	Weak transcription	Psoas Muscle	Psoas
17	chr2:85941600-85944000	Enhancers	Fetal Thymus	thymus
18	chr2:85941600-85946200	Weak transcription	Right Ventricle	heart
19	chr2:85941600-85946600	Weak transcription	Adipose Nuclei	Adipose
20	chr2:85941600-85946600	Weak transcription	Right Atrium	heart
21	chr2:85942200-85946000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:85942800-85944600	Weak transcription	Stomach Mucosa	stomach
23	chr2:85943200-85943800	Enhancers	Lung	lung
24	chr2:85943200-85944000	Enhancers	Left Ventricle	heart
25	chr2:85943200-85945000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:85943400-85943800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr2:85943400-85944000	Enhancers	Fetal Heart	heart
28	chr2:85943400-85945400	Enhancers	K562	blood
29	chr2:85943600-85943800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:85943600-85943800	Enhancers	Brain Hippocampus Middle	brain
31	chr2:85943600-85943800	Enhancers	Fetal Lung	lung
32	chr2:85943600-85944000	Enhancers	Spleen	Spleen

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