Variant report

Variant	rs421128
Chromosome Location	chr5:70807073-70807074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10057258	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10079014	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1017225	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10942288	0.81[EUR][1000 genomes]
rs10942548	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12187886	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12652916	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13169095	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13182226	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13183892	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs156756	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs157192	0.85[AMR][1000 genomes]
rs166758	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap]
rs16871757	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1990996	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2059196	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs276589	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277927	0.83[AMR][1000 genomes]
rs277941	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277946	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs277947	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs277952	0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.86[TSI][hapmap]
rs277955	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes]
rs277975	0.82[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap]
rs277982	0.82[AMR][1000 genomes]
rs277983	0.87[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs277987	0.92[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap]
rs277988	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes]
rs277990	0.89[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes]
rs277991	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes]
rs277992	0.83[AMR][1000 genomes]
rs277993	0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap]
rs277994	0.91[CEU][hapmap];0.80[AMR][1000 genomes]
rs279289	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs282357	0.87[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[TSI][hapmap];0.83[YRI][hapmap]
rs368462	0.83[AMR][1000 genomes]
rs3761966	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs388918	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs411050	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs412766	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs457889	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs458829	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4602607	0.89[EUR][1000 genomes]
rs461942	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs462534	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs464639	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs467880	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs467883	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs468010	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs468796	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4703987	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4704050	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs561139	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs617876	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67735897	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6872978	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs875136	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9885334	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70754200-70815800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:70754400-70807200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:70754400-70809800	Strong transcription	Fetal Intestine Large	intestine
4	chr5:70754400-70824200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:70754600-70820400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:70754600-70820400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:70759800-70833400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:70765400-70820400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:70765400-70820400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr5:70766000-70820400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:70771400-70820400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:70774400-70820400	Strong transcription	Fetal Thymus	thymus
13	chr5:70775600-70821000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:70776400-70819200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:70776400-70820400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:70776400-70820400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr5:70776400-70820400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr5:70776600-70820400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:70776800-70820400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:70776800-70820400	Strong transcription	Dnd41	blood
21	chr5:70777600-70837600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:70777800-70816400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:70778400-70810000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:70778400-70816400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr5:70778400-70869600	Weak transcription	Stomach Mucosa	stomach
26	chr5:70779000-70820400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:70779000-70820600	Strong transcription	Liver	Liver
28	chr5:70779200-70812400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:70779200-70820600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:70779400-70820400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:70779800-70809000	Strong transcription	Primary T cells from cord blood	blood
32	chr5:70780000-70820400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:70780200-70820400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:70783000-70811200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:70788000-70819000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:70789600-70825400	Weak transcription	Fetal Heart	heart
37	chr5:70790200-70816800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:70790400-70820400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:70790600-70812800	Strong transcription	Fetal Lung	lung
40	chr5:70790800-70809800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:70790800-70820400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:70795000-70812400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:70795000-70820400	Strong transcription	Osteobl	bone
44	chr5:70796200-70825400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:70796400-70809800	Strong transcription	Fetal Brain Female	brain
46	chr5:70796400-70820400	Strong transcription	Adipose Nuclei	Adipose
47	chr5:70796600-70820400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:70796800-70819800	Weak transcription	Pancreas	Pancrea
49	chr5:70796800-70820400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:70796800-70820400	Strong transcription	Placenta	Placenta

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