Variant report

Variant	rs72971952
Chromosome Location	chr3:121280943-121280944
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs3218652	1.00[AMR][1000 genomes]
rs58297766	1.00[AMR][1000 genomes]
rs58466835	1.00[AMR][1000 genomes]
rs58525071	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58881799	1.00[AMR][1000 genomes]
rs58922309	1.00[AMR][1000 genomes]
rs60108064	1.00[AMR][1000 genomes]
rs60204652	1.00[AMR][1000 genomes]
rs61004683	1.00[AMR][1000 genomes]
rs61040872	1.00[AMR][1000 genomes]
rs72971955	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73855375	1.00[AMR][1000 genomes]
rs73855376	1.00[AMR][1000 genomes]
rs73855378	1.00[AMR][1000 genomes]
rs73855380	1.00[AMR][1000 genomes]
rs73855381	1.00[AMR][1000 genomes]
rs73855385	1.00[AMR][1000 genomes]
rs73855388	1.00[AMR][1000 genomes]
rs73855389	1.00[AMR][1000 genomes]
rs73855390	1.00[AMR][1000 genomes]
rs73855391	1.00[AMR][1000 genomes]
rs73855392	1.00[AMR][1000 genomes]
rs73855394	1.00[AMR][1000 genomes]
rs73855395	1.00[AMR][1000 genomes]
rs73855396	1.00[AMR][1000 genomes]
rs73855397	1.00[AMR][1000 genomes]
rs73855399	1.00[AMR][1000 genomes]
rs73855400	1.00[AMR][1000 genomes]
rs73855402	1.00[AMR][1000 genomes]
rs73857903	1.00[AMR][1000 genomes]
rs73857906	1.00[AMR][1000 genomes]
rs73857907	1.00[AMR][1000 genomes]
rs73857909	1.00[AMR][1000 genomes]
rs73857910	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv877381	chr3:121192350-121343500	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv999349	chr3:121253990-121360206	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3445327	chr3:121260311-121288302	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv2757006	chr3:121264886-121323465	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv2759172	chr3:121264886-121323465	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121279600-121281400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr3:121280200-121281400	Enhancers	Ovary	ovary
3	chr3:121280400-121281200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:121280400-121281200	Enhancers	Placenta	Placenta
5	chr3:121280400-121281400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:121280400-121281400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr3:121280600-121281000	Enhancers	A549	lung
8	chr3:121280600-121281000	Flanking Active TSS	Hela-S3	cervix
9	chr3:121280600-121281200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:121280600-121281200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:121280600-121281200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:121280600-121281200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:121280600-121281200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:121280600-121281200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:121280600-121281400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:121280600-121281400	Enhancers	Colon Smooth Muscle	Colon
17	chr3:121280600-121281600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:121280600-121281600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr3:121280600-121281800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:121280800-121281000	Enhancers	HepG2	liver
21	chr3:121280800-121281200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr3:121280800-121281200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr3:121280800-121281200	Enhancers	NHEK	skin

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