Variant report

Variant	rs2070545
Chromosome Location	chr21:45349509-45349510
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45347889..45351135-chr21:45352926..45356421,4	MCF-7	breast:
2	chr21:45223486..45226473-chr21:45348909..45351794,2	K562	blood:
3	chr21:45346227..45347778-chr21:45348105..45349970,2	MCF-7	breast:
4	chr21:45341393..45343529-chr21:45348103..45349848,2	MCF-7	breast:
5	chr21:45349099..45350809-chr21:45357162..45358991,2	MCF-7	breast:
6	chr21:45283505..45286463-chr21:45348240..45352791,7	MCF-7	breast:
7	chr21:45283531..45287054-chr21:45347082..45351012,6	MCF-7	breast:
8	chr21:45341019..45344772-chr21:45346724..45351005,5	MCF-7	breast:
9	chr21:45348204..45349934-chr21:45358596..45359626,8	MCF-7	breast:
10	chr21:45236395..45237208-chr21:45348998..45349676,2	MCF-7	breast:
11	chr21:45230508..45231133-chr21:45349247..45350005,2	MCF-7	breast:
12	chr21:45347618..45349669-chr21:45357451..45359063,2	MCF-7	breast:
13	chr21:45284552..45285785-chr21:45349151..45350031,4	MCF-7	breast:
14	chr21:45349394..45350688-chr21:45394837..45395974,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2248918	0.92[ASN][1000 genomes]
rs2838442	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2838443	0.84[YRI][hapmap];0.92[AFR][1000 genomes]
rs3788076	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3788083	0.84[YRI][hapmap];0.92[AFR][1000 genomes]
rs73371158	0.92[ASN][1000 genomes]
rs73371168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8134181	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45336400-45351600	Weak transcription	Fetal Brain Female	brain
2	chr21:45337200-45350800	Weak transcription	Fetal Brain Male	brain
3	chr21:45337600-45358600	Weak transcription	Osteobl	bone
4	chr21:45338800-45358600	Weak transcription	Hela-S3	cervix
5	chr21:45340800-45358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:45341400-45358600	Weak transcription	A549	lung
7	chr21:45342200-45357000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr21:45342200-45358800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr21:45342400-45356400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr21:45342600-45350400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:45342600-45353000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr21:45342600-45354600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:45342800-45350600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr21:45342800-45351000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr21:45343000-45357600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr21:45343000-45372400	Weak transcription	Small Intestine	intestine
17	chr21:45343400-45355200	Weak transcription	Brain Germinal Matrix	brain
18	chr21:45343400-45355600	Weak transcription	Brain Angular Gyrus	brain
19	chr21:45343600-45349800	Strong transcription	GM12878-XiMat	blood
20	chr21:45343600-45358000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr21:45343800-45356000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr21:45343800-45356200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr21:45343800-45357600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr21:45343800-45358600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:45343800-45358600	Weak transcription	HSMM	muscle
26	chr21:45343800-45358800	Weak transcription	Ovary	ovary
27	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:45344000-45350000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr21:45344000-45357200	Strong transcription	Fetal Stomach	stomach
30	chr21:45344200-45352200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:45344400-45350200	Strong transcription	Thymus	Thymus
32	chr21:45344400-45350400	Strong transcription	Dnd41	blood
33	chr21:45344400-45358400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr21:45344600-45349800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr21:45344600-45352400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr21:45345000-45350000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr21:45345200-45349600	Weak transcription	Brain Substantia Nigra	brain
38	chr21:45345200-45358600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr21:45345400-45353000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr21:45345400-45358600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:45345600-45353800	Weak transcription	Colonic Mucosa	Colon
42	chr21:45345800-45351000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:45345800-45352800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr21:45345800-45354800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr21:45346400-45352000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr21:45346400-45355400	Weak transcription	Fetal Lung	lung
47	chr21:45347200-45350400	Strong transcription	Primary T cells from cord blood	blood
48	chr21:45347200-45351200	Enhancers	Left Ventricle	heart
49	chr21:45347400-45349800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:45347400-45349800	Enhancers	Stomach Mucosa	stomach

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