Variant report

Variant	rs13275528
Chromosome Location	chr8:120890857-120890858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10093230	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10094455	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10094458	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10094587	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10098306	0.84[AMR][1000 genomes]
rs10103058	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10107251	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10107361	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10110216	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10110223	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10955940	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10955941	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11777705	0.81[AMR][1000 genomes]
rs11781657	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12545854	0.80[AMR][1000 genomes]
rs12677814	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12679937	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12681402	0.81[AMR][1000 genomes]
rs12681623	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12681883	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13249122	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13250594	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13253140	0.81[AMR][1000 genomes]
rs13257252	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13257316	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13258592	0.80[AMR][1000 genomes]
rs13259990	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13260088	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13260933	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13261304	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13263296	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13265367	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13265546	0.81[AMR][1000 genomes]
rs13267652	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13267896	0.81[AMR][1000 genomes]
rs13269024	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13277947	0.81[AMR][1000 genomes]
rs13277992	0.81[AMR][1000 genomes]
rs13279398	0.81[AMR][1000 genomes]
rs13281299	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13282901	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1467044	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28669275	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4073560	0.81[AMR][1000 genomes]
rs4871012	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4871013	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4871772	0.84[AMR][1000 genomes]
rs4871773	0.84[AMR][1000 genomes]
rs6469861	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6469862	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6469863	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6469864	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6469865	0.83[AMR][1000 genomes]
rs6469867	0.81[AMR][1000 genomes]
rs6469868	0.81[AMR][1000 genomes]
rs6469870	0.81[AMR][1000 genomes]
rs6469871	0.81[AMR][1000 genomes]
rs6469872	0.81[AMR][1000 genomes]
rs6987580	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6988011	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6989741	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6993375	0.83[AMR][1000 genomes]
rs6993797	0.83[AMR][1000 genomes]
rs6995139	0.81[AMR][1000 genomes]
rs7002839	0.81[AMR][1000 genomes]
rs7003126	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7006905	0.81[AMR][1000 genomes]
rs7015470	0.81[AMR][1000 genomes]
rs7387694	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7459671	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7461290	0.81[AMR][1000 genomes]
rs7462250	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7462302	0.81[AMR][1000 genomes]
rs7465181	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7814496	0.80[AMR][1000 genomes]
rs7818471	0.83[AMR][1000 genomes]
rs7832923	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9649947	0.81[AMR][1000 genomes]
rs9720591	0.81[AMR][1000 genomes]
rs9721029	0.82[AMR][1000 genomes]
rs9721042	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120887200-120898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:120887200-120907600	Weak transcription	Pancreas	Pancrea
3	chr8:120887600-120899400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:120888000-120903800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:120888200-120903400	Weak transcription	Right Atrium	heart
6	chr8:120888200-120904600	Weak transcription	Fetal Kidney	kidney
7	chr8:120888600-120899400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:120888600-120899800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:120888800-120898400	Weak transcription	Gastric	stomach
10	chr8:120889200-120891200	Enhancers	Brain Hippocampus Middle	brain
11	chr8:120889400-120898200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:120889600-120894800	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:120889600-120902200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:120889600-120905400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:120889800-120898200	Weak transcription	Stomach Mucosa	stomach
16	chr8:120889800-120903200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:120889800-120903600	Weak transcription	Fetal Stomach	stomach
18	chr8:120890000-120895800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:120890000-120896000	Weak transcription	Brain Substantia Nigra	brain
20	chr8:120890000-120898400	Weak transcription	Brain Angular Gyrus	brain
21	chr8:120890000-120898400	Weak transcription	Psoas Muscle	Psoas
22	chr8:120890000-120905400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:120890200-120891000	Strong transcription	Ovary	ovary
24	chr8:120890200-120891800	Strong transcription	Fetal Intestine Small	intestine
25	chr8:120890200-120895800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:120890200-120898400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:120890200-120898400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:120890400-120891800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:120890400-120891800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:120890600-120891800	Strong transcription	Colon Smooth Muscle	Colon
31	chr8:120890600-120892000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:120890600-120892000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:120890800-120891200	Strong transcription	Fetal Intestine Large	intestine
34	chr8:120890800-120892600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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