Variant report

Variant	rs73367982
Chromosome Location	chr21:40815870-40815871
allele	A/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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40791594..40793834-chr21:40813541..40816112,2	K562	blood:
2	chr21:40552682..40557091-chr21:40814575..40819975,14	K562	blood:
3	chr21:40719238..40723494-chr21:40813785..40819496,7	MCF-7	breast:
4	chr21:40750443..40753981-chr21:40814998..40818130,3	MCF-7	breast:
5	chr21:40808402..40815127-chr21:40815513..40821149,12	K562	blood:
6	chr21:40552682..40557546-chr21:40815502..40820280,12	K562	blood:
7	chr21:40683646..40687466-chr21:40813293..40816602,5	MCF-7	breast:
8	chr21:40554820..40556384-chr21:40814358..40816122,2	MCF-7	breast:
9	chr21:40757952..40760815-chr21:40812863..40817486,4	MCF-7	breast:
10	chr21:40720623..40723017-chr21:40815562..40818761,4	K562	blood:
11	chr21:40719410..40723060-chr21:40814028..40819084,9	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGN1-3	chr21:40815385-40816127	NONHSAT082195

No data

Variant related genes	Relation type
ENSG00000272991	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000183527	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16997735	1.00[EUR][1000 genomes]
rs16997736	1.00[EUR][1000 genomes]
rs17406223	1.00[EUR][1000 genomes]
rs61100936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73354299	1.00[EUR][1000 genomes]
rs73354302	1.00[EUR][1000 genomes]
rs73356009	1.00[EUR][1000 genomes]
rs73356012	1.00[EUR][1000 genomes]
rs73356014	1.00[EUR][1000 genomes]
rs73356017	1.00[EUR][1000 genomes]
rs73364045	1.00[EUR][1000 genomes]
rs73365919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73365937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73367937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73367966	1.00[EUR][1000 genomes]
rs73367969	1.00[EUR][1000 genomes]
rs73367979	1.00[EUR][1000 genomes]
rs73367997	1.00[EUR][1000 genomes]
rs73370019	1.00[EUR][1000 genomes]
rs73370028	1.00[EUR][1000 genomes]
rs73370036	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv20340	chr21:40814284-40816976	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40778200-40816600	Weak transcription	Pancreas	Pancrea
2	chr21:40778400-40816600	Weak transcription	Left Ventricle	heart
3	chr21:40802600-40816200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:40802600-40816600	Weak transcription	Right Atrium	heart
5	chr21:40809400-40816400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr21:40809800-40816600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr21:40811600-40816600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:40812600-40816600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:40813400-40816400	Weak transcription	Hela-S3	cervix
10	chr21:40813800-40816600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:40813800-40816600	Enhancers	Fetal Heart	heart
12	chr21:40814000-40816600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:40814000-40816600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:40814000-40816600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr21:40814000-40816600	Weak transcription	Right Ventricle	heart
16	chr21:40814400-40816000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr21:40814400-40816600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr21:40814400-40816600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:40814600-40816400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr21:40814600-40816600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr21:40814600-40816600	Weak transcription	HMEC	breast
22	chr21:40814600-40816800	Weak transcription	Ovary	ovary
23	chr21:40814800-40816400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:40814800-40816400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:40814800-40816600	Weak transcription	HSMM	muscle
26	chr21:40815000-40816400	Weak transcription	Fetal Muscle Leg	muscle
27	chr21:40815000-40816600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:40815000-40816600	Weak transcription	Fetal Kidney	kidney
29	chr21:40815200-40816200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:40815400-40816400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr21:40815400-40816400	Weak transcription	Spleen	Spleen
32	chr21:40815800-40816200	Weak transcription	HSMMtube	muscle
33	chr21:40815800-40816200	Weak transcription	K562	blood
34	chr21:40815800-40816800	Enhancers	Fetal Thymus	thymus

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