Variant report

Variant	rs2838667
Chromosome Location	chr21:46170737-46170738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46169476..46172400-chr21:46192060..46193740,2	MCF-7	breast:
2	chr21:46169282..46171670-chr21:46175239..46177493,2	MCF-7	breast:
3	chr21:46154840..46157384-chr21:46169701..46172367,2	K562	blood:
4	chr21:46155884..46158662-chr21:46169392..46171201,2	K562	blood:
5	chr21:46161776..46163948-chr21:46169494..46171205,2	K562	blood:
6	chr21:46168780..46172261-chr21:46182031..46184514,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58001811	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59073447	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59189711	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59337865	1.00[AMR][1000 genomes]
rs60085696	1.00[AMR][1000 genomes]
rs7280175	1.00[AMR][1000 genomes]
rs73906917	1.00[AMR][1000 genomes]
rs73909247	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers 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	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46168000-46185800	Weak transcription	Right Atrium	heart
2	chr21:46168400-46173400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:46168600-46171800	Flanking Active TSS	NHEK	skin
4	chr21:46168800-46171600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:46169200-46172400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:46169200-46173000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr21:46169400-46173000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:46169600-46170800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:46169600-46171800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr21:46169600-46172600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr21:46169600-46172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:46169800-46170800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:46169800-46171600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr21:46169800-46172600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr21:46170200-46170800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:46170200-46171600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr21:46170200-46171600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr21:46170400-46170800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:46170400-46170800	Enhancers	Fetal Lung	lung
20	chr21:46170400-46171000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr21:46170400-46171200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:46170400-46171400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:46170400-46171600	Bivalent Enhancer	Fetal Stomach	stomach
24	chr21:46170600-46170800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:46170600-46170800	Bivalent Enhancer	Fetal Thymus	thymus
26	chr21:46170600-46170800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr21:46170600-46171000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr21:46170600-46171000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr21:46170600-46171200	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr21:46170600-46171400	Enhancers	HUVEC	blood vessel
31	chr21:46170600-46171600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr21:46170600-46171600	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr21:46170600-46172000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr21:46170600-46172200	Enhancers	Fetal Muscle Trunk	muscle

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