Variant report

Variant	rs2838346
Chromosome Location	chr21:45096448-45096449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45081592..45084345-chr21:45095328..45097020,2	MCF-7	breast:
2	chr21:45092089..45093860-chr21:45094731..45097626,2	K562	blood:
3	chr21:45094040..45098097-chr21:45110651..45114479,4	K562	blood:
4	chr21:45088895..45092016-chr21:45095977..45098550,3	K562	blood:
5	chr21:45094660..45096892-chr21:45205328..45207677,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11911865	0.81[AFR][1000 genomes]
rs12329926	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2838347	0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2838349	0.90[AFR][1000 genomes]
rs718470	0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs9974343	0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9977028	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9982658	0.89[AFR][1000 genomes]
rs9984711	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv999311	chr21:45087738-45097588	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1066728	chr21:45089877-45131723	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45080600-45122400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45080800-45121800	Weak transcription	Fetal Heart	heart
3	chr21:45080800-45122600	Weak transcription	Small Intestine	intestine
4	chr21:45082000-45101800	Weak transcription	Fetal Kidney	kidney
5	chr21:45082000-45107200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr21:45082400-45097200	Weak transcription	Fetal Brain Male	brain
7	chr21:45082800-45116600	Strong transcription	Primary T cells from cord blood	blood
8	chr21:45086000-45117200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:45086400-45110600	Weak transcription	Stomach Mucosa	stomach
10	chr21:45088400-45117200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr21:45088600-45097400	Strong transcription	K562	blood
12	chr21:45088600-45116400	Strong transcription	Dnd41	blood
13	chr21:45088600-45117000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr21:45088800-45118200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:45089000-45117000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr21:45089000-45117000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr21:45089000-45117000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:45089200-45098000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr21:45089200-45098000	Strong transcription	A549	lung
20	chr21:45089200-45098400	Strong transcription	Brain Germinal Matrix	brain
21	chr21:45089200-45099000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:45089200-45099400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:45089200-45101400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:45089200-45115000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr21:45089200-45116000	Strong transcription	Fetal Thymus	thymus
26	chr21:45089200-45116200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr21:45089200-45117000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr21:45089200-45117200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr21:45089400-45099000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr21:45089400-45116600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr21:45089600-45097800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr21:45089600-45116400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr21:45089600-45116400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr21:45089800-45098000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr21:45089800-45098000	Strong transcription	NHEK	skin
36	chr21:45089800-45098200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr21:45089800-45098600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr21:45089800-45099200	Strong transcription	Liver	Liver
39	chr21:45089800-45099200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr21:45089800-45100000	Strong transcription	Adipose Nuclei	Adipose
41	chr21:45089800-45107200	Strong transcription	Fetal Muscle Leg	muscle
42	chr21:45089800-45107800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr21:45089800-45108000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr21:45089800-45117000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr21:45089800-45117200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr21:45090000-45107800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr21:45090200-45097400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr21:45090200-45097600	Strong transcription	GM12878-XiMat	blood
49	chr21:45090400-45097600	Strong transcription	HMEC	breast
50	chr21:45090400-45097800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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