Variant report

Variant	rs2071873
Chromosome Location	chr21:46602833-46602834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11088983	0.98[AFR][1000 genomes]
rs11700834	0.97[AFR][1000 genomes]
rs13051236	0.91[AFR][1000 genomes]
rs1537123	0.87[AFR][1000 genomes]
rs2225434	0.87[AFR][1000 genomes]
rs2246081	0.94[AFR][1000 genomes]
rs2838799	0.85[AFR][1000 genomes]
rs2838800	0.98[AFR][1000 genomes]
rs2838806	0.94[AFR][1000 genomes]
rs2838808	0.94[ASN][1000 genomes]
rs2838813	0.93[AFR][1000 genomes]
rs2838815	0.91[AFR][1000 genomes]
rs2838817	0.94[ASN][1000 genomes]
rs2849618	0.91[AFR][1000 genomes]
rs367986	0.84[AFR][1000 genomes]
rs373037	0.85[AFR][1000 genomes]
rs377902	0.84[AFR][1000 genomes]
rs3788183	0.88[AFR][1000 genomes]
rs412646	0.84[AFR][1000 genomes]
rs415597	0.93[ASN][1000 genomes]
rs421716	0.94[AFR][1000 genomes]
rs422870	0.85[AFR][1000 genomes]
rs4818766	0.83[AFR][1000 genomes]
rs4819034	0.89[AFR][1000 genomes]
rs8134836	0.92[AFR][1000 genomes]
rs914206	0.90[AFR][1000 genomes]
rs984791	0.98[AFR][1000 genomes]
rs9980766	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv1802303	chr21:46580319-46606676	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46557000-46604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr21:46572800-46604800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr21:46575400-46604800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr21:46583800-46606000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:46588200-46604800	Weak transcription	NHLF	lung
6	chr21:46589000-46606400	Weak transcription	Brain Substantia Nigra	brain
7	chr21:46589000-46646000	Weak transcription	Colonic Mucosa	Colon
8	chr21:46589600-46604600	Weak transcription	Osteobl	bone
9	chr21:46589800-46604800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr21:46589800-46604800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr21:46590000-46604800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr21:46590000-46605000	Weak transcription	Psoas Muscle	Psoas
13	chr21:46590000-46608800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:46590800-46607000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr21:46591000-46605000	Strong transcription	HSMM	muscle
16	chr21:46591400-46605000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr21:46591400-46605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr21:46594400-46604800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:46595200-46605000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr21:46595400-46603600	Strong transcription	HSMMtube	muscle
21	chr21:46595600-46603000	Strong transcription	Adipose Nuclei	Adipose
22	chr21:46595600-46603200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr21:46595600-46603600	Strong transcription	Aorta	Aorta
24	chr21:46595600-46606000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr21:46595600-46607400	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr21:46595800-46603800	Strong transcription	Primary T cells from cord blood	blood
27	chr21:46595800-46605000	Weak transcription	NH-A	brain
28	chr21:46595800-46605200	Strong transcription	Primary B cells from cord blood	blood
29	chr21:46595800-46605400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr21:46595800-46605800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:46595800-46607400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr21:46596000-46605800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr21:46596000-46605800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr21:46596200-46604000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr21:46596800-46604800	Weak transcription	Fetal Intestine Large	intestine
36	chr21:46597200-46604800	Weak transcription	Brain Germinal Matrix	brain
37	chr21:46597800-46603000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr21:46598200-46603200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr21:46598400-46604800	Weak transcription	Brain Angular Gyrus	brain
40	chr21:46598600-46604800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr21:46598600-46606200	Weak transcription	K562	blood
42	chr21:46598800-46604800	Weak transcription	Fetal Kidney	kidney
43	chr21:46599200-46605600	Weak transcription	Fetal Heart	heart
44	chr21:46599600-46607400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr21:46599800-46605000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr21:46599800-46605800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr21:46600000-46603000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr21:46600000-46605400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr21:46600200-46606600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr21:46600400-46604800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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