Variant report

Variant	rs467880
Chromosome Location	chr5:70848514-70848515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:70848453..70850965-chr5:70856159..70858159,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10057258	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10079014	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1017225	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10942548	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12187886	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12652916	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13169095	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13182226	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13183892	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs156756	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs157192	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs157193	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs166758	0.86[AMR][1000 genomes]
rs16871757	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs169406	0.81[AMR][1000 genomes]
rs1990996	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2059196	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs276589	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs277927	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs277941	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs277946	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs277947	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs277955	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs277977	0.85[AMR][1000 genomes]
rs277982	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs277983	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs277984	0.82[AMR][1000 genomes]
rs277987	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs277988	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs277989	0.81[AMR][1000 genomes]
rs277990	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs277991	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs277992	0.91[AMR][1000 genomes]
rs277993	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs277994	0.86[AMR][1000 genomes]
rs277998	0.86[AMR][1000 genomes]
rs279289	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs282357	0.86[AMR][1000 genomes]
rs368462	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3761966	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs388918	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs411050	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs412766	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs421128	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs457889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs458829	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4602607	0.81[EUR][1000 genomes]
rs461942	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs462534	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs464639	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs467883	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs468010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs468796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4703987	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4704050	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs561139	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs617876	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67735897	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6872978	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs875136	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9885334	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv882177	chr5:70800538-70856378	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv882178	chr5:70806958-70856378	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv882179	chr5:70807073-70856378	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
8	esv3422044	chr5:70846621-70849169	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70778400-70869600	Weak transcription	Stomach Mucosa	stomach
2	chr5:70820200-70857400	Weak transcription	Small Intestine	intestine
3	chr5:70825200-70859600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:70825800-70869200	Weak transcription	Fetal Heart	heart
5	chr5:70827600-70864400	Strong transcription	Liver	Liver
6	chr5:70831400-70864600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:70834000-70871800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:70834200-70862800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:70835800-70850400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:70837800-70861800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:70838000-70859400	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr5:70838400-70850200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:70839400-70870000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:70840400-70849800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:70841400-70860800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:70841800-70849000	Weak transcription	Psoas Muscle	Psoas
17	chr5:70842800-70849000	Weak transcription	K562	blood
18	chr5:70843400-70849200	Weak transcription	Brain Angular Gyrus	brain
19	chr5:70843600-70848600	Weak transcription	HUVEC	blood vessel
20	chr5:70843600-70849800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:70844800-70850000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:70845400-70849600	Weak transcription	NHLF	lung
23	chr5:70845600-70849200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:70845600-70849400	Weak transcription	Fetal Kidney	kidney
25	chr5:70845600-70849400	Weak transcription	HSMM	muscle
26	chr5:70846000-70848600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:70846000-70848800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:70846000-70849000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:70846000-70849400	Weak transcription	A549	lung
30	chr5:70846000-70849400	Weak transcription	Hela-S3	cervix
31	chr5:70846000-70853600	Weak transcription	Fetal Brain Male	brain
32	chr5:70846000-70863800	Weak transcription	Esophagus	oesophagus
33	chr5:70846000-70872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr5:70846200-70848600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr5:70846200-70849000	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:70846200-70849000	Weak transcription	HepG2	liver
37	chr5:70846200-70849400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr5:70846200-70849600	Weak transcription	Left Ventricle	heart
39	chr5:70846200-70852800	Weak transcription	Brain Substantia Nigra	brain
40	chr5:70846200-70853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:70846200-70856600	Weak transcription	Aorta	Aorta
42	chr5:70846200-70866200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:70846200-70867600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:70846400-70848600	Weak transcription	HMEC	breast
45	chr5:70846400-70848600	Weak transcription	NHEK	skin
46	chr5:70846400-70848800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:70846400-70849000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:70846400-70849000	Weak transcription	Placenta	Placenta
49	chr5:70846400-70851800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:70846600-70848600	Weak transcription	Primary B cells from peripheral blood	blood

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