Variant report

Variant	rs73380569
Chromosome Location	chr21:46450687-46450688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46446924..46449567-chr21:46450451..46452982,2	MCF-7	breast:
2	chr21:46449255..46451183-chr21:46452644..46454339,2	K562	blood:
3	chr21:46449363..46451001-chr21:46455293..46458206,2	K562	blood:
4	chr21:46450068..46453536-chr21:46454953..46460100,5	MCF-7	breast:
5	chr21:46450570..46454441-chr21:46490790..46494874,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000268856	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57212419	1.00[EUR][1000 genomes]
rs57339712	1.00[EUR][1000 genomes]
rs57619688	1.00[EUR][1000 genomes]
rs58645077	1.00[EUR][1000 genomes]
rs59039239	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61084677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61215574	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61371515	1.00[EUR][1000 genomes]
rs7276484	1.00[EUR][1000 genomes]
rs7281130	1.00[EUR][1000 genomes]
rs73380541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380566	1.00[EUR][1000 genomes]
rs73906949	1.00[EUR][1000 genomes]
rs73906951	1.00[EUR][1000 genomes]
rs73906952	1.00[EUR][1000 genomes]
rs73907234	1.00[EUR][1000 genomes]
rs73909914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8126844	1.00[EUR][1000 genomes]
rs8131832	1.00[EUR][1000 genomes]
rs8132122	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv913994	chr21:46376528-46454391	Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv913995	chr21:46376528-46466674	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv913996	chr21:46383941-46459432	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv913997	chr21:46383941-46472929	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	esv1834255	chr21:46408790-46472929	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	esv1838717	chr21:46408790-46472929	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv587832	chr21:46448003-46451705	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46438600-46453000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:46439400-46452200	Weak transcription	Esophagus	oesophagus
3	chr21:46442200-46450800	Weak transcription	Spleen	Spleen
4	chr21:46446600-46451400	Weak transcription	Ovary	ovary
5	chr21:46446800-46452400	Weak transcription	Aorta	Aorta
6	chr21:46448600-46451000	Enhancers	Fetal Muscle Leg	muscle
7	chr21:46449000-46455800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr21:46449200-46450800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr21:46449200-46451000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:46449200-46451000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:46449200-46451000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr21:46449200-46451000	Bivalent Enhancer	Fetal Brain Male	brain
13	chr21:46449200-46451000	Enhancers	NHLF	lung
14	chr21:46449200-46451200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr21:46449200-46451200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr21:46449200-46451200	Enhancers	HSMM	muscle
17	chr21:46449200-46451200	Enhancers	HSMMtube	muscle
18	chr21:46449200-46451800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr21:46449200-46452000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:46449200-46452400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr21:46449200-46452600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:46449200-46453200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr21:46449200-46453600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr21:46449200-46455000	Bivalent Enhancer	Fetal Stomach	stomach
25	chr21:46449200-46455200	Enhancers	Right Atrium	heart
26	chr21:46449400-46450800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr21:46449400-46451000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr21:46449400-46451800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr21:46449400-46452000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr21:46449400-46452000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr21:46449400-46453000	Weak transcription	Fetal Heart	heart
32	chr21:46449400-46453200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr21:46449600-46451600	Enhancers	Pancreas	Pancrea
34	chr21:46449600-46453800	Weak transcription	Colon Smooth Muscle	Colon
35	chr21:46449800-46450800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:46449800-46455200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr21:46449800-46455200	Enhancers	Left Ventricle	heart
38	chr21:46450000-46450800	Weak transcription	Right Ventricle	heart
39	chr21:46450000-46451000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:46450000-46451400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr21:46450000-46451400	Enhancers	Placenta	Placenta
42	chr21:46450000-46452200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr21:46450000-46452600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:46450200-46450800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr21:46450200-46451000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:46450200-46451000	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr21:46450200-46451000	Bivalent Enhancer	HepG2	liver
48	chr21:46450200-46451600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr21:46450400-46450800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr21:46450400-46450800	Flanking Active TSS	Fetal Lung	lung

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