Variant report

Variant	rs4818871
Chromosome Location	chr21:45293405-45293406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45291069..45293875-chr21:45339586..45342577,2	K562	blood:
2	chr21:45281251..45288408-chr21:45292401..45302111,14	MCF-7	breast:
3	chr21:45288706..45291944-chr21:45293288..45295731,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199598	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1007439	0.91[ASN][1000 genomes]
rs10432972	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10775683	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12397628	0.87[ASN][1000 genomes]
rs13052200	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1573474	0.95[ASN][1000 genomes]
rs2838423	0.80[ASN][1000 genomes]
rs2838424	0.80[ASN][1000 genomes]
rs4819321	0.87[ASN][1000 genomes]
rs4819322	0.87[ASN][1000 genomes]
rs4819323	0.87[ASN][1000 genomes]
rs4819324	0.87[ASN][1000 genomes]
rs4819327	0.87[ASN][1000 genomes]
rs4819329	0.87[ASN][1000 genomes]
rs7275972	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs762404	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8130695	0.87[ASN][1000 genomes]
rs8133789	0.95[ASN][1000 genomes]
rs9306163	0.90[ASN][1000 genomes]
rs9979796	0.83[ASN][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	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	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv3538	chr21:45267674-45297159	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr21:45286000-45300400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:45286800-45293800	Weak transcription	HSMMtube	muscle
3	chr21:45286800-45299800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:45287000-45293800	Weak transcription	HSMM	muscle
5	chr21:45287000-45297600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr21:45287000-45299800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:45287000-45304200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr21:45287200-45295200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:45287200-45299400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:45287200-45299600	Weak transcription	NHDF-Ad	bronchial
11	chr21:45287200-45300000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:45287400-45293600	Strong transcription	Fetal Stomach	stomach
13	chr21:45287400-45296200	Weak transcription	Fetal Heart	heart
14	chr21:45287400-45297600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr21:45287400-45299400	Weak transcription	Right Atrium	heart
16	chr21:45287400-45299600	Weak transcription	Brain Substantia Nigra	brain
17	chr21:45287400-45299800	Weak transcription	Hela-S3	cervix
18	chr21:45287400-45300200	Weak transcription	HUVEC	blood vessel
19	chr21:45287400-45300200	Weak transcription	NH-A	brain
20	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
21	chr21:45287600-45294200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr21:45287600-45299400	Weak transcription	Brain Anterior Caudate	brain
23	chr21:45287600-45299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr21:45287600-45300000	Weak transcription	A549	lung
25	chr21:45287600-45307200	Weak transcription	Fetal Brain Male	brain
26	chr21:45287800-45293600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr21:45288200-45300000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr21:45288200-45300200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:45288200-45324200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr21:45288400-45294200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:45288400-45294200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr21:45288400-45299600	Weak transcription	HMEC	breast
33	chr21:45288600-45294200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr21:45288600-45297400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr21:45288800-45303800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr21:45289000-45299200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr21:45289400-45300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr21:45289600-45294400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr21:45289600-45299400	Weak transcription	Colon Smooth Muscle	Colon
40	chr21:45289800-45293800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr21:45289800-45296000	Strong transcription	Fetal Intestine Large	intestine
42	chr21:45289800-45297800	Weak transcription	Esophagus	oesophagus
43	chr21:45289800-45297800	Weak transcription	Psoas Muscle	Psoas
44	chr21:45289800-45298000	Weak transcription	Colonic Mucosa	Colon
45	chr21:45289800-45299400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr21:45290000-45297600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr21:45290000-45299600	Strong transcription	Fetal Intestine Small	intestine
48	chr21:45290200-45294200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr21:45290400-45294200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr21:45290400-45298000	Weak transcription	Stomach Smooth Muscle	stomach

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