Variant report

Variant	rs73930965
Chromosome Location	chr2:38992750-38992751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:38992163-38992818	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr2:38992054-38992856	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38992665..38995431-chr2:39003330..39006208,3	K562	blood:
2	chr2:38974221..38979921-chr2:38986851..38994572,21	K562	blood:
3	chr2:38992046..38994768-chr2:39003878..39006153,3	MCF-7	breast:
4	chr2:38991194..38992863-chr2:38993787..38996027,2	MCF-7	breast:
5	chr2:38976319..38979796-chr2:38988969..38996616,16	MCF-7	breast:
6	chr2:38973912..38980240-chr2:38989822..38999883,17	MCF-7	breast:
7	chr2:38991817..38994202-chr2:39346658..39349506,2	MCF-7	breast:
8	chr2:38992289..38994375-chr2:38996037..38998957,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000232114	TF binding region
ENSG00000152147	Chromatin interaction
ENSG00000232114	Chromatin interaction
ENSG00000115904	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs59737185	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61388335	1.00[AMR][1000 genomes]
rs73930367	1.00[AMR][1000 genomes]
rs73930825	1.00[AMR][1000 genomes]
rs73930826	1.00[AMR][1000 genomes]
rs73930827	1.00[AMR][1000 genomes]
rs73930831	1.00[AMR][1000 genomes]
rs73930943	1.00[AMR][1000 genomes]
rs73930945	1.00[AMR][1000 genomes]
rs73930952	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930955	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930956	0.85[AFR][1000 genomes]
rs73930960	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930966	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	esv1798055	chr2:38955865-39039504	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv1014616	chr2:38985472-39022893	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38979200-39005000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:38991200-38994200	Weak transcription	HepG2	liver
3	chr2:38991600-38993200	Enhancers	NH-A	brain
4	chr2:38991800-38993200	Enhancers	HMEC	breast
5	chr2:38991800-38993600	Enhancers	Osteobl	bone
6	chr2:38991800-38993800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:38991800-38994400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:38992000-38993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:38992000-38993200	Enhancers	HSMM	muscle
10	chr2:38992200-38993400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:38992200-38995200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:38992400-38992800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:38992400-38992800	Enhancers	Fetal Heart	heart
14	chr2:38992400-38992800	Enhancers	NHEK	skin
15	chr2:38992600-38993000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:38992600-38993200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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