Variant report

Variant	rs2248918
Chromosome Location	chr21:45337096-45337097
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45284356..45288156-chr21:45335500..45338176,5	K562	blood:
2	chr21:45278801..45280900-chr21:45336641..45338168,2	MCF-7	breast:
3	chr21:45283510..45287238-chr21:45336572..45339046,5	MCF-7	breast:
4	chr21:45289119..45291555-chr21:45336176..45338160,3	K562	blood:
5	chr21:45289119..45291947-chr21:45336176..45338497,2	K562	blood:
6	chr21:45334570..45338840-chr21:45339112..45343099,4	MCF-7	breast:
7	chr21:45282036..45289054-chr21:45334704..45338842,9	K562	blood:

Variant related genes	Relation type
ENSG00000199598	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2070545	0.92[ASN][1000 genomes]
rs2838442	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs6378	1.00[EUR][1000 genomes]
rs6381	1.00[EUR][1000 genomes]
rs6385	1.00[EUR][1000 genomes]
rs7281307	1.00[EUR][1000 genomes]
rs7281760	1.00[EUR][1000 genomes]
rs73371146	0.86[ASN][1000 genomes]
rs73371158	0.94[ASN][1000 genomes]
rs73371168	0.92[ASN][1000 genomes]
rs8134181	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs9975576	1.00[EUR][1000 genomes]
rs9977449	1.00[EUR][1000 genomes]
rs9979878	1.00[EUR][1000 genomes]
rs9981554	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45324600-45337200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr21:45331800-45337200	Weak transcription	Stomach Mucosa	stomach
3	chr21:45332000-45337400	Weak transcription	Small Intestine	intestine
4	chr21:45332800-45340000	Weak transcription	Fetal Kidney	kidney
5	chr21:45333000-45337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr21:45333000-45341000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:45333000-45341200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:45333600-45340400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:45334200-45337400	Strong transcription	Fetal Intestine Small	intestine
10	chr21:45334200-45337800	Weak transcription	HepG2	liver
11	chr21:45334200-45338000	Weak transcription	Fetal Intestine Large	intestine
12	chr21:45334200-45341000	Weak transcription	Placenta	Placenta
13	chr21:45334200-45341200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr21:45334600-45337200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:45334800-45340000	Weak transcription	Psoas Muscle	Psoas
16	chr21:45336000-45337200	Enhancers	Brain Substantia Nigra	brain
17	chr21:45336000-45337200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr21:45336000-45337800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:45336000-45344400	Enhancers	Liver	Liver
20	chr21:45336200-45337200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr21:45336200-45337200	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr21:45336200-45337400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:45336200-45337600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr21:45336200-45337600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:45336200-45337600	Enhancers	Fetal Heart	heart
26	chr21:45336200-45338400	Enhancers	Left Ventricle	heart
27	chr21:45336400-45337200	Active TSS	Brain Anterior Caudate	brain
28	chr21:45336400-45337200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr21:45336400-45337200	Active TSS	Rectal Smooth Muscle	rectum
30	chr21:45336400-45337200	Active TSS	GM12878-XiMat	blood
31	chr21:45336400-45337200	Active TSS	HMEC	breast
32	chr21:45336400-45337400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr21:45336400-45337400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr21:45336400-45337400	Flanking Active TSS	NHEK	skin
35	chr21:45336400-45337600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr21:45336400-45337600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr21:45336400-45337600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr21:45336400-45337600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr21:45336400-45351600	Weak transcription	Fetal Brain Female	brain
40	chr21:45336600-45337200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr21:45336600-45337200	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr21:45336600-45337200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr21:45336600-45337200	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr21:45336600-45337200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr21:45336600-45337200	Active TSS	Adipose Nuclei	Adipose
46	chr21:45336600-45337200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr21:45336600-45337200	Active TSS	Ovary	ovary
48	chr21:45336600-45337200	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr21:45336600-45337200	Active TSS	NHLF	lung
50	chr21:45336600-45337400	Enhancers	H1 Cell Line	embryonic stem cell

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