Variant report

Variant	rs2070544
Chromosome Location	chr21:45398488-45398489
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45396457..45398519-chr21:45430379..45433232,2	MCF-7	breast:
2	chr21:45393503..45396203-chr21:45397849..45399605,2	MCF-7	breast:
3	chr21:45334786..45336804-chr21:45397178..45399390,2	K562	blood:
4	chr21:45227991..45230203-chr21:45396778..45398676,2	K562	blood:
5	chr21:45388564..45390911-chr21:45397082..45399492,2	K562	blood:
6	chr21:45397719..45400643-chr21:45719972..45722043,2	MCF-7	breast:
7	chr21:45283523..45287177-chr21:45394995..45398783,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000141959	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1058694	0.82[AMR][1000 genomes]
rs11537799	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2000788	0.88[ASN][1000 genomes]
rs2254072	0.90[ASN][1000 genomes]
rs2838449	0.89[ASN][1000 genomes]
rs2838455	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3788092	0.90[ASN][1000 genomes]
rs3788096	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818874	0.88[ASN][1000 genomes]
rs4818877	0.93[ASN][1000 genomes]
rs4819354	0.88[ASN][1000 genomes]
rs57524571	0.90[ASN][1000 genomes]
rs59443212	0.90[ASN][1000 genomes]
rs61033068	0.88[ASN][1000 genomes]
rs7281359	0.81[EUR][1000 genomes]
rs7282631	0.80[ASN][1000 genomes]
rs7435	0.82[AMR][1000 genomes]
rs915876	0.90[ASN][1000 genomes]
rs9647232	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9983354	0.83[ASN][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	chr21:45377000-45400800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr21:45378200-45403800	Strong transcription	Dnd41	blood
3	chr21:45378600-45400800	Weak transcription	NH-A	brain
4	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
5	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr21:45379600-45405000	Weak transcription	NHDF-Ad	bronchial
7	chr21:45380400-45399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr21:45381600-45400800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr21:45382000-45402600	Weak transcription	Small Intestine	intestine
10	chr21:45383200-45405400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr21:45383200-45405400	Weak transcription	Hela-S3	cervix
12	chr21:45383400-45405200	Weak transcription	HUVEC	blood vessel
13	chr21:45387600-45401400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr21:45389600-45401200	Weak transcription	Psoas Muscle	Psoas
15	chr21:45391600-45406800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:45391800-45399800	Weak transcription	Primary B cells from cord blood	blood
17	chr21:45392000-45406800	Weak transcription	NHEK	skin
18	chr21:45393000-45405200	Weak transcription	HepG2	liver
19	chr21:45393200-45399400	Weak transcription	Primary T cells from cord blood	blood
20	chr21:45393200-45401000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr21:45393200-45413800	Weak transcription	HSMMtube	muscle
22	chr21:45393600-45401000	Weak transcription	Aorta	Aorta
23	chr21:45393800-45400400	Weak transcription	NHLF	lung
24	chr21:45394800-45398600	Enhancers	Stomach Mucosa	stomach
25	chr21:45395400-45399400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr21:45395400-45400600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:45395400-45401000	Weak transcription	Brain Angular Gyrus	brain
28	chr21:45395400-45401400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr21:45395400-45401800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr21:45395400-45403800	Weak transcription	Fetal Kidney	kidney
31	chr21:45395400-45406000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr21:45395600-45399000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr21:45395600-45400000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr21:45395600-45400800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:45395600-45402000	Weak transcription	Fetal Brain Male	brain
36	chr21:45395600-45404200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:45395800-45399400	Weak transcription	Brain Hippocampus Middle	brain
38	chr21:45395800-45400200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr21:45395800-45401000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr21:45395800-45401000	Weak transcription	Brain Substantia Nigra	brain
41	chr21:45395800-45401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr21:45395800-45405000	Strong transcription	Fetal Intestine Small	intestine
43	chr21:45395800-45405400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr21:45395800-45405600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr21:45396000-45398800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr21:45396200-45404200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr21:45396600-45398800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr21:45396600-45399000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr21:45396600-45403000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr21:45396600-45403600	Strong transcription	Primary monocytes fromperipheralblood	blood

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