Variant report

Variant	rs2838457
Chromosome Location	chr21:45397335-45397336
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45396457..45398519-chr21:45430379..45433232,2	MCF-7	breast:
2	chr21:45334786..45336804-chr21:45397178..45399390,2	K562	blood:
3	chr21:45395932..45398361-chr21:45406476..45408690,2	K562	blood:
4	chr21:45227991..45230203-chr21:45396778..45398676,2	K562	blood:
5	chr21:45388564..45390911-chr21:45397082..45399492,2	K562	blood:
6	chr21:45396300..45397971-chr21:45431060..45432924,2	MCF-7	breast:
7	chr21:45283523..45287177-chr21:45394995..45398783,3	MCF-7	breast:
8	chr21:45395932..45398037-chr21:45406476..45409180,2	K562	blood:
9	chr21:45395089..45398039-chr21:45405481..45407221,3	MCF-7	breast:
10	chr21:45395550..45398275-chr21:45399563..45401306,2	K562	blood:
11	chr21:45394072..45397426-chr21:45398939..45402016,4	K562	blood:
12	chr21:45234318..45236275-chr21:45396629..45398423,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11537798	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11911398	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17004619	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039273	1.00[JPT][hapmap]
rs2838454	0.87[EUR][1000 genomes]
rs2838461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57209759	0.90[ASN][1000 genomes]
rs7283150	0.90[ASN][1000 genomes]
rs73373134	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73373146	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73373152	0.95[EUR][1000 genomes]
rs73906692	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73906701	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8133463	0.87[EUR][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	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
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45377000-45398400	Weak transcription	A549	lung
2	chr21:45377000-45400800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr21:45378200-45403800	Strong transcription	Dnd41	blood
4	chr21:45378600-45400800	Weak transcription	NH-A	brain
5	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
6	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr21:45379600-45405000	Weak transcription	NHDF-Ad	bronchial
8	chr21:45380400-45399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr21:45381600-45400800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:45382000-45402600	Weak transcription	Small Intestine	intestine
11	chr21:45383200-45405400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr21:45383200-45405400	Weak transcription	Hela-S3	cervix
13	chr21:45383400-45398000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:45383400-45405200	Weak transcription	HUVEC	blood vessel
15	chr21:45387600-45401400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr21:45389600-45401200	Weak transcription	Psoas Muscle	Psoas
17	chr21:45391600-45406800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:45391800-45399800	Weak transcription	Primary B cells from cord blood	blood
19	chr21:45392000-45406800	Weak transcription	NHEK	skin
20	chr21:45392200-45397800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:45392200-45398400	Weak transcription	Colonic Mucosa	Colon
22	chr21:45392600-45397800	Weak transcription	Colon Smooth Muscle	Colon
23	chr21:45392800-45398000	Weak transcription	Osteobl	bone
24	chr21:45393000-45397800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr21:45393000-45405200	Weak transcription	HepG2	liver
26	chr21:45393200-45398000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr21:45393200-45399400	Weak transcription	Primary T cells from cord blood	blood
28	chr21:45393200-45401000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr21:45393200-45413800	Weak transcription	HSMMtube	muscle
30	chr21:45393400-45397800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr21:45393400-45397800	Weak transcription	Fetal Brain Female	brain
32	chr21:45393600-45397800	Weak transcription	Adipose Nuclei	Adipose
33	chr21:45393600-45401000	Weak transcription	Aorta	Aorta
34	chr21:45393800-45397800	Weak transcription	Brain Germinal Matrix	brain
35	chr21:45393800-45398000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr21:45393800-45400400	Weak transcription	NHLF	lung
37	chr21:45394800-45398600	Enhancers	Stomach Mucosa	stomach
38	chr21:45395400-45397800	Weak transcription	Right Ventricle	heart
39	chr21:45395400-45397800	Weak transcription	Spleen	Spleen
40	chr21:45395400-45398000	Weak transcription	Fetal Lung	lung
41	chr21:45395400-45399400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr21:45395400-45400600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr21:45395400-45401000	Weak transcription	Brain Angular Gyrus	brain
44	chr21:45395400-45401400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr21:45395400-45401800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr21:45395400-45403800	Weak transcription	Fetal Kidney	kidney
47	chr21:45395400-45406000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr21:45395600-45397600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr21:45395600-45397800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr21:45395600-45397800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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