Variant report

Variant	rs422720
Chromosome Location	chr21:46578954-46578955
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46578518..46581096-chr21:46581512..46584493,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11088982	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11088983	0.91[CEU][hapmap];0.94[CHB][hapmap];0.83[EUR][1000 genomes]
rs11700834	0.83[EUR][1000 genomes]
rs12185823	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13047803	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs13051236	0.81[EUR][1000 genomes]
rs1537121	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1537122	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs1537123	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1556317	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2003273	0.81[JPT][hapmap]
rs2150439	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2225434	0.85[CEU][hapmap]
rs2246081	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs2838778	0.81[JPT][hapmap]
rs2838787	0.81[JPT][hapmap]
rs2838788	0.81[JPT][hapmap]
rs2838791	0.81[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2838797	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2838799	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs2838800	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2838803	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2838806	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs2838807	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2838813	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2838815	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs2849618	0.84[EUR][1000 genomes]
rs28782181	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs365791	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs367986	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs372766	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs373037	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs374778	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs377524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs377902	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs3788180	0.84[ASN][1000 genomes]
rs3788183	0.81[EUR][1000 genomes]
rs381466	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs384876	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs386762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394608	0.85[CEU][hapmap]
rs395761	0.85[CEU][hapmap]
rs397092	0.85[CEU][hapmap]
rs399185	0.81[EUR][1000 genomes]
rs412646	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs421716	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs422870	0.84[EUR][1000 genomes]
rs434492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4818766	0.88[CEU][hapmap]
rs4819030	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4819031	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4819034	0.82[EUR][1000 genomes]
rs6518214	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7281416	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7281757	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs8126717	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8126895	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8128889	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs8130224	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs8133307	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8134789	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8134836	0.81[EUR][1000 genomes]
rs914206	0.83[EUR][1000 genomes]
rs983157	0.81[EUR][1000 genomes]
rs983749	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs984791	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs9974232	0.85[ASN][1000 genomes]
rs9980766	0.81[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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs422720	LOC642852	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46556600-46581000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr21:46557000-46604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr21:46557200-46591800	Weak transcription	HUVEC	blood vessel
4	chr21:46557600-46582600	Weak transcription	Psoas Muscle	Psoas
5	chr21:46558600-46588800	Weak transcription	Colonic Mucosa	Colon
6	chr21:46560800-46586400	Weak transcription	Liver	Liver
7	chr21:46563000-46595600	Weak transcription	Pancreas	Pancrea
8	chr21:46566000-46583200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr21:46568400-46581400	Weak transcription	Gastric	stomach
10	chr21:46569000-46587000	Weak transcription	NHEK	skin
11	chr21:46570400-46582600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:46571000-46580000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr21:46571800-46580800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:46572000-46581000	Weak transcription	Fetal Brain Male	brain
15	chr21:46572000-46581200	Weak transcription	Lung	lung
16	chr21:46572000-46584000	Weak transcription	Ovary	ovary
17	chr21:46572000-46584000	Weak transcription	Stomach Mucosa	stomach
18	chr21:46572200-46595600	Weak transcription	Brain Germinal Matrix	brain
19	chr21:46572400-46579600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr21:46572400-46581000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr21:46572400-46601000	Weak transcription	Fetal Brain Female	brain
22	chr21:46572800-46604800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr21:46573000-46582800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr21:46573000-46588400	Weak transcription	Thymus	Thymus
25	chr21:46573600-46591800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:46573800-46586800	Weak transcription	Adipose Nuclei	Adipose
27	chr21:46574000-46579600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr21:46574200-46589200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr21:46574800-46580000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr21:46574800-46580600	Weak transcription	Fetal Heart	heart
31	chr21:46574800-46583600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:46575000-46581000	Weak transcription	Esophagus	oesophagus
33	chr21:46575000-46586400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr21:46575000-46587000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr21:46575000-46595600	Weak transcription	Dnd41	blood
36	chr21:46575000-46601000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr21:46575200-46579600	Weak transcription	Aorta	Aorta
38	chr21:46575200-46581400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr21:46575200-46583600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr21:46575200-46586600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:46575200-46587000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:46575400-46580000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:46575400-46580200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr21:46575400-46580600	Weak transcription	Colon Smooth Muscle	Colon
45	chr21:46575400-46581400	Weak transcription	Fetal Thymus	thymus
46	chr21:46575400-46582000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr21:46575400-46583200	Weak transcription	Right Atrium	heart
48	chr21:46575400-46583400	Weak transcription	Left Ventricle	heart
49	chr21:46575400-46583400	Weak transcription	Spleen	Spleen
50	chr21:46575400-46587800	Weak transcription	Rectal Smooth Muscle	rectum

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