Variant report

Variant	rs62121973
Chromosome Location	chr2:20677891-20677892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:20677800-20677950	GM12871	blood:	n/a	n/a
2	NFYA	chr2:20677805-20677955	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:20677767-20678129	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr2:20677688-20678188	HUVEC	blood vessel:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20671493..20673943-chr2:20675690..20678137,2	K562	blood:
2	chr2:20676371..20679223-chr2:20692816..20695545,2	K562	blood:
3	chr2:20677229..20679285-chr2:20689494..20691945,2	K562	blood:
4	chr2:20675942..20677933-chr2:20832476..20834230,2	MCF-7	breast:
5	chr2:20642734..20659399-chr2:20663729..20679011,83	MCF-7	breast:
6	chr2:20643286..20659825-chr2:20662702..20680153,143	MCF-7	breast:
7	chr2:20670475..20680240-chr2:20690452..20700902,27	MCF-7	breast:
8	chr11:107581160..107581699-chr2:20677885..20678629,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200829	TF binding region
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3732161	1.00[AFR][1000 genomes]
rs59362641	1.00[ASN][1000 genomes]
rs60304749	1.00[ASN][1000 genomes]
rs62121969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62121970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72786535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	chr2:20676000-20679800	Weak transcription	Liver	Liver
24	chr2:20677200-20678200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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