Variant report

Variant	rs28669275
Chromosome Location	chr8:120901953-120901954
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120895341..120897767-chr8:120900762..120903244,3	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10093230	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10094455	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10094458	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10094587	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10098306	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10103058	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10103660	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10107251	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10107361	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10107579	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10110216	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10110223	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10216503	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10217083	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808505	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10955940	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955941	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11777705	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11781657	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12545854	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12545863	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12677814	0.81[AMR][1000 genomes]
rs12681402	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12681623	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12681883	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13249122	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13250594	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13253140	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13257252	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13257316	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13258592	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13259990	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13260088	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13260933	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13261304	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13263296	0.88[AMR][1000 genomes]
rs13265367	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13265546	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13267652	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13267896	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13275184	0.87[EUR][1000 genomes]
rs13275524	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13275528	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13277947	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13277992	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13279398	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13281299	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13282901	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1464276	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1467044	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs1607624	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2037346	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28513081	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35272074	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4073560	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871012	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871013	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871772	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871773	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4871787	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55892034	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56864850	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6469861	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469862	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469863	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469864	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469865	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469867	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469868	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469870	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469871	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469872	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469878	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6987580	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6988011	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6989741	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6993375	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6993797	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6995139	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7002839	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7003126	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7006905	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7015470	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7387264	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7387694	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7388508	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7459671	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7461290	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7462250	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7462302	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7465181	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7465609	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7465612	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7814294	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7814496	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7814520	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7818471	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7824545	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7829901	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7832923	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs939241	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs939242	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9649947	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9720591	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9721029	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9721042	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9987332	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv972194	chr8:120898451-120965081	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120887200-120907600	Weak transcription	Pancreas	Pancrea
2	chr8:120888000-120903800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:120888200-120903400	Weak transcription	Right Atrium	heart
4	chr8:120888200-120904600	Weak transcription	Fetal Kidney	kidney
5	chr8:120889600-120902200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:120889600-120905400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:120889800-120903200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:120889800-120903600	Weak transcription	Fetal Stomach	stomach
9	chr8:120890000-120905400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:120891200-120903800	Weak transcription	Fetal Intestine Large	intestine
11	chr8:120891800-120902200	Weak transcription	Fetal Intestine Small	intestine
12	chr8:120895600-120903600	Weak transcription	Fetal Lung	lung
13	chr8:120896200-120904800	Weak transcription	HSMMtube	muscle
14	chr8:120896400-120903600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:120897600-120904400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:120898400-120902200	Enhancers	Brain Anterior Caudate	brain
17	chr8:120898600-120903400	Weak transcription	Adipose Nuclei	Adipose
18	chr8:120898800-120903200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:120898800-120905000	Weak transcription	Small Intestine	intestine
20	chr8:120898800-120907600	Weak transcription	Gastric	stomach
21	chr8:120899200-120903600	Weak transcription	Stomach Mucosa	stomach
22	chr8:120899200-120903800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:120899400-120903800	Weak transcription	Liver	Liver
24	chr8:120899600-120903000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:120899600-120905400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:120899800-120902200	Enhancers	Brain Angular Gyrus	brain
27	chr8:120900000-120904600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:120900200-120903200	Weak transcription	Psoas Muscle	Psoas
29	chr8:120900200-120904200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:120900600-120902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:120900800-120903200	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:120900800-120907400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:120901200-120902200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:120901200-120903200	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:120901600-120902400	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:120901600-120903200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:120901600-120905000	Weak transcription	Ovary	ovary
38	chr8:120901800-120902000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:120901800-120903000	Weak transcription	Brain Substantia Nigra	brain
40	chr8:120901800-120903400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:120901800-120903400	Weak transcription	Brain Inferior Temporal Lobe	brain

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