Variant report

Variant	rs342127
Chromosome Location	chr2:20676147-20676148
allele	A/G
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20672482..20676692-chr2:20708404..20712337,6	MCF-7	breast:
2	chr2:20672944..20676325-chr2:20833428..20835504,3	MCF-7	breast:
3	chr2:20671493..20673943-chr2:20675690..20678137,2	K562	blood:
4	chr2:20674741..20676765-chr2:20820633..20823389,2	MCF-7	breast:
5	chr2:20674472..20676562-chr2:20797774..20800276,2	MCF-7	breast:
6	chr2:20675942..20677933-chr2:20832476..20834230,2	MCF-7	breast:
7	chr1:53163826..53165457-chr2:20674191..20676699,2	MCF-7	breast:
8	chr2:20672268..20676296-chr2:20688942..20691347,3	MCF-7	breast:
9	chr2:20642734..20659399-chr2:20663729..20679011,83	MCF-7	breast:
10	chr2:20673030..20677020-chr2:20693011..20697499,5	MCF-7	breast:
11	chr2:20674640..20676762-chr2:20681845..20683748,2	MCF-7	breast:
12	chr2:20643286..20659825-chr2:20662702..20680153,143	MCF-7	breast:
13	chr2:20670475..20680240-chr2:20690452..20700902,27	MCF-7	breast:
14	chr2:20645693..20649420-chr2:20672488..20676639,4	K562	blood:
15	chr2:20673986..20676261-chr2:20681219..20683452,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143878	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000162377	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs342115	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs342120	0.82[EUR][1000 genomes]
rs61754182	0.92[EUR][1000 genomes]
rs73221999	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873717	chr2:20625174-20756900	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv873718	chr2:20627875-20752152	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv873719	chr2:20628882-20756900	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv873720	chr2:20645835-20756900	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv873721	chr2:20645835-20759789	Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv873722	chr2:20652507-20705910	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20666400-20681800	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:20672000-20681800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:20673000-20687000	Weak transcription	Spleen	Spleen
4	chr2:20673200-20678800	Weak transcription	Psoas Muscle	Psoas
5	chr2:20673400-20682000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:20673400-20683400	Weak transcription	Esophagus	oesophagus
7	chr2:20674400-20682000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:20674600-20678600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:20674600-20680800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:20674600-20681800	Weak transcription	Fetal Kidney	kidney
11	chr2:20674600-20686400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:20674800-20682000	Weak transcription	Adipose Nuclei	Adipose
13	chr2:20674800-20682000	Weak transcription	Left Ventricle	heart
14	chr2:20675000-20678600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:20675000-20678800	Weak transcription	Brain Angular Gyrus	brain
16	chr2:20675000-20678800	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:20675000-20678800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:20675200-20678800	Weak transcription	Brain Anterior Caudate	brain
19	chr2:20675400-20679000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:20675400-20681600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:20675600-20678000	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:20675600-20678600	Weak transcription	Brain Substantia Nigra	brain
23	chr2:20675800-20677200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:20676000-20679800	Weak transcription	Liver	Liver

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