Variant report

Variant	rs8130224
Chromosome Location	chr21:46616441-46616442
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	chr21:46614558..46617534-chr21:46620902..46623223,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11088982	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11088983	0.91[CEU][hapmap];0.94[CHB][hapmap]
rs12185823	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13047803	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1537121	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1537122	0.82[CEU][hapmap]
rs1556317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2150439	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838778	0.81[JPT][hapmap]
rs2838787	0.81[JPT][hapmap]
rs2838788	0.81[JPT][hapmap]
rs2838791	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs2838797	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838807	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28782181	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs365791	0.81[ASN][1000 genomes]
rs372766	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs374778	0.80[ASN][1000 genomes]
rs377524	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs3788180	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs381466	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs384876	0.85[ASN][1000 genomes]
rs386762	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs407133	0.81[CEU][hapmap]
rs422720	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs427943	0.82[CEU][hapmap]
rs434492	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs446158	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4819030	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4819031	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6518214	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7281416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7281757	0.84[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8126717	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8126895	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8128889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8134789	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9974232	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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
11	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer 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
12	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats 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	53 gene(s)	inside rSNPs	diseases
13	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats 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
14	nsv1063721	chr21:46610599-46907894	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
15	nsv1059779	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
16	nsv544485	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8130224	LOC642852	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46589000-46646000	Weak transcription	Colonic Mucosa	Colon
2	chr21:46604800-46618200	Strong transcription	Hela-S3	cervix
3	chr21:46605200-46620000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:46606000-46624400	Weak transcription	Esophagus	oesophagus
5	chr21:46606000-46630600	Weak transcription	Pancreas	Pancrea
6	chr21:46606400-46619200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr21:46606600-46622200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr21:46606800-46624400	Weak transcription	Ovary	ovary
9	chr21:46606800-46624400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr21:46606800-46628400	Weak transcription	NH-A	brain
11	chr21:46606800-46640800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr21:46607000-46622400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:46607600-46628600	Weak transcription	Osteobl	bone
14	chr21:46607800-46619200	Weak transcription	HMEC	breast
15	chr21:46608000-46619600	Strong transcription	HSMM	muscle
16	chr21:46608400-46618000	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr21:46608400-46618200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:46609000-46624400	Weak transcription	Thymus	Thymus
19	chr21:46609000-46624600	Weak transcription	Placenta	Placenta
20	chr21:46609000-46630600	Weak transcription	Fetal Thymus	thymus
21	chr21:46609000-46630800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:46609600-46634600	Weak transcription	Fetal Heart	heart
23	chr21:46610000-46634800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr21:46610000-46644800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr21:46610200-46623600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr21:46610200-46634400	Weak transcription	Psoas Muscle	Psoas
27	chr21:46610400-46619600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:46610400-46620400	Strong transcription	HSMMtube	muscle
29	chr21:46610400-46641000	Weak transcription	Brain Germinal Matrix	brain
30	chr21:46610400-46641800	Weak transcription	HepG2	liver
31	chr21:46610600-46621800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr21:46610800-46619600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr21:46610800-46619800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr21:46610800-46620000	Weak transcription	Spleen	Spleen
35	chr21:46610800-46624200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr21:46610800-46640200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr21:46610800-46641000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr21:46610800-46641200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr21:46610800-46647800	Weak transcription	Brain Angular Gyrus	brain
40	chr21:46611000-46617600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr21:46611000-46619000	Weak transcription	Fetal Stomach	stomach
42	chr21:46611000-46619000	Weak transcription	Right Ventricle	heart
43	chr21:46611000-46619200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr21:46611000-46620200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr21:46611000-46620400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr21:46611000-46620800	Weak transcription	Colon Smooth Muscle	Colon
47	chr21:46611000-46622400	Weak transcription	Fetal Intestine Small	intestine
48	chr21:46611000-46623200	Weak transcription	Brain Anterior Caudate	brain
49	chr21:46611000-46624200	Weak transcription	NHEK	skin
50	chr21:46611000-46624400	Weak transcription	Brain Hippocampus Middle	brain

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