Variant report

Variant	rs2838841
Chromosome Location	chr21:46668777-46668778
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	chr21:46664716..46666767-chr21:46668227..46671842,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2838835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838846	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838851	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34806772	0.82[ASN][1000 genomes]
rs61096652	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73907283	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9979141	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv1059805	chr21:46618210-46736943	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS 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	27 gene(s)	inside rSNPs	diseases
17	nsv913999	chr21:46636844-46765251	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
18	nsv587842	chr21:46641017-46670752	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
19	nsv914000	chr21:46647078-46765251	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
20	nsv914001	chr21:46647078-46944113	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
21	nsv914002	chr21:46655638-46945024	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
22	nsv1057807	chr21:46656346-47077374	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46668000-46668800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr21:46668000-46669200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46668000-46669200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:46668200-46668800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
5	chr21:46668200-46668800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
6	chr21:46668200-46669000	Enhancers	Liver	Liver
7	chr21:46668200-46669200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr21:46668200-46669400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr21:46668200-46669400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:46668200-46669400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr21:46668400-46668800	Flanking Active TSS	Colon Smooth Muscle	Colon
12	chr21:46668400-46669200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr21:46668400-46669200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr21:46668400-46669200	Enhancers	Brain Substantia Nigra	brain
15	chr21:46668400-46669400	Enhancers	Fetal Brain Male	brain
16	chr21:46668600-46668800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr21:46668600-46668800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:46668600-46668800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:46668600-46668800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:46668600-46668800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr21:46668600-46668800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:46668600-46668800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
23	chr21:46668600-46668800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
24	chr21:46668600-46668800	Bivalent Enhancer	Colonic Mucosa	Colon
25	chr21:46668600-46668800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr21:46668600-46668800	Bivalent Enhancer	Fetal Stomach	stomach
27	chr21:46668600-46668800	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr21:46668600-46668800	Flanking Active TSS	Right Atrium	heart
29	chr21:46668600-46668800	Enhancers	Right Ventricle	heart
30	chr21:46668600-46668800	Flanking Active TSS	A549	lung
31	chr21:46668600-46668800	Flanking Active TSS	HSMM	muscle
32	chr21:46668600-46668800	Enhancers	HSMMtube	muscle
33	chr21:46668600-46668800	Bivalent Enhancer	K562	blood
34	chr21:46668600-46668800	Flanking Bivalent TSS/Enh	Osteobl	bone
35	chr21:46668600-46669000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr21:46668600-46669000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
37	chr21:46668600-46669000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:46668600-46669000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
39	chr21:46668600-46669000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:46668600-46669000	Active TSS	Brain Angular Gyrus	brain
41	chr21:46668600-46669000	Enhancers	Esophagus	oesophagus
42	chr21:46668600-46669000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
43	chr21:46668600-46669000	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr21:46668600-46669000	Bivalent Enhancer	NH-A	brain
45	chr21:46668600-46669000	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
46	chr21:46668600-46669000	Flanking Bivalent TSS/Enh	NHLF	lung
47	chr21:46668600-46669200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:46668600-46669200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr21:46668600-46669200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr21:46668600-46669200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung

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