Variant report

Variant	rs73834519
Chromosome Location	chr4:102889994-102889995
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr4:102889624-102890090	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:102889946..102892052-chr4:102899600..102901567,2	MCF-7	breast:

Variant related genes	Relation type
MTND5P5	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10516485	0.82[ASN][1000 genomes]
rs1352173	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1486573	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16996753	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17031698	0.82[ASN][1000 genomes]
rs17031705	0.82[ASN][1000 genomes]
rs17031709	0.89[ASN][1000 genomes]
rs17031752	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17031772	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17031808	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17031827	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17031842	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17031852	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17031854	1.00[AMR][1000 genomes]
rs17031862	1.00[AMR][1000 genomes]
rs17031870	1.00[AMR][1000 genomes]
rs17031876	1.00[AMR][1000 genomes]
rs1833499	0.93[ASN][1000 genomes]
rs2276333	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2276334	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2866392	1.00[ASN][1000 genomes]
rs41347351	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41516147	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4356916	0.82[ASN][1000 genomes]
rs55952681	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56757011	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56803425	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57545925	1.00[AMR][1000 genomes]
rs58588907	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58630066	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58846155	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59656969	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59859836	1.00[AMR][1000 genomes]
rs59893832	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60180803	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61067451	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61546925	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72929967	1.00[AMR][1000 genomes]
rs72933903	1.00[AMR][1000 genomes]
rs73834511	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73834520	0.83[AFR][1000 genomes]
rs73834525	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73834537	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73834541	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73834547	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73834549	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869164	chr4:102483189-103213842	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv999861	chr4:102576115-102930562	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2757945	chr4:102662699-103008940	Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759269	chr4:102662699-103008940	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1011180	chr4:102685236-102985945	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv537202	chr4:102685236-102985945	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2757074	chr4:102772861-102933949	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv879682	chr4:102859835-103088491	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102883400-102891400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:102883600-102891400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:102888000-102890400	Enhancers	Hela-S3	cervix
4	chr4:102888600-102890400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:102888800-102890000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:102888800-102890000	Enhancers	Osteobl	bone
7	chr4:102889200-102890400	Genic enhancers	Primary B cells from peripheral blood	blood
8	chr4:102889200-102890600	Enhancers	Stomach Mucosa	stomach
9	chr4:102889400-102891000	Weak transcription	Primary B cells from cord blood	blood
10	chr4:102889400-102897800	Weak transcription	NH-A	brain
11	chr4:102889600-102890200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:102889600-102890400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:102889600-102890800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:102889600-102891000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:102889600-102893600	Weak transcription	HMEC	breast
16	chr4:102889800-102890200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:102889800-102890200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:102889800-102890200	Flanking Active TSS	A549	lung
19	chr4:102889800-102890600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:102889800-102891200	Weak transcription	NHDF-Ad	bronchial

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