Variant report

Variant	rs34332346
Chromosome Location	chr21:40692467-40692468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40690460..40692960-chr21:40749748..40751781,2	K562	blood:
2	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
3	chr21:40692002..40694012-chr22:43010007..43012538,2	MCF-7	breast:
4	chr21:40683271..40692626-chr21:40743960..40754349,22	MCF-7	breast:
5	chr21:40691963..40695047-chr21:40751458..40754017,3	MCF-7	breast:
6	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182093	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000100227	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000238556	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000227406	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73359526	1.00[AMR][1000 genomes]
rs73359528	1.00[AMR][1000 genomes]
rs73359542	1.00[AMR][1000 genomes]
rs73359547	1.00[AMR][1000 genomes]
rs73359556	1.00[AMR][1000 genomes]
rs73359559	1.00[AMR][1000 genomes]
rs73359562	1.00[AMR][1000 genomes]
rs73359573	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv587482	chr21:40684427-40706594	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv587483	chr21:40686327-40718161	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40687000-40693400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr21:40687600-40693000	Enhancers	Fetal Heart	heart
3	chr21:40689600-40693800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr21:40690600-40692800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr21:40690600-40692800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:40690600-40692800	Enhancers	Left Ventricle	heart
7	chr21:40690800-40692600	Enhancers	Fetal Muscle Leg	muscle
8	chr21:40690800-40694600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:40691200-40692600	Enhancers	Right Ventricle	heart
10	chr21:40691800-40692600	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr21:40692000-40694000	Enhancers	HMEC	breast
12	chr21:40692000-40694200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr21:40692200-40692600	Enhancers	Fetal Lung	lung
14	chr21:40692200-40692600	Enhancers	Stomach Smooth Muscle	stomach
15	chr21:40692400-40692800	Enhancers	K562	blood
16	chr21:40692400-40693400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:40692400-40693400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:40692400-40693400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr21:40692400-40693400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:40692400-40693400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:40692400-40693400	Weak transcription	A549	lung
22	chr21:40692400-40693400	Weak transcription	Hela-S3	cervix
23	chr21:40692400-40693400	Weak transcription	HepG2	liver
24	chr21:40692400-40693400	Weak transcription	NHDF-Ad	bronchial
25	chr21:40692400-40693400	Weak transcription	NHEK	skin
26	chr21:40692400-40693400	Weak transcription	NHLF	lung
27	chr21:40692400-40693400	Weak transcription	Osteobl	bone
28	chr21:40692400-40693600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr21:40692400-40693600	Active TSS	Placenta	Placenta
30	chr21:40692400-40694400	Weak transcription	HSMMtube	muscle
31	chr21:40692400-40694600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr21:40692400-40718400	Weak transcription	Right Atrium	heart

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