Variant report

Variant	rs73046249
Chromosome Location	chr3:21760087-21760088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10510515	1.00[AFR][1000 genomes]
rs10510516	1.00[AFR][1000 genomes]
rs11712782	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11718610	1.00[AFR][1000 genomes]
rs12152283	1.00[AFR][1000 genomes]
rs12635315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17009232	1.00[AFR][1000 genomes]
rs17009250	1.00[AFR][1000 genomes]
rs17009256	1.00[AFR][1000 genomes]
rs17009261	1.00[AFR][1000 genomes]
rs17009271	1.00[AFR][1000 genomes]
rs17009397	0.82[EUR][1000 genomes]
rs73037288	1.00[AFR][1000 genomes]
rs73040075	1.00[AFR][1000 genomes]
rs73040090	1.00[AFR][1000 genomes]
rs73040094	1.00[AFR][1000 genomes]
rs73042185	1.00[AFR][1000 genomes]
rs73046212	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73046229	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73046250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73046267	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834631	chr3:21612283-21763887	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21755800-21760600	Weak transcription	Aorta	Aorta
2	chr3:21757800-21761400	Enhancers	HMEC	breast
3	chr3:21758000-21760600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:21758000-21760800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:21758000-21764600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:21758400-21760800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:21758800-21760400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:21758800-21761000	Enhancers	NH-A	brain
9	chr3:21758800-21761400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:21758800-21761600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:21759000-21760800	Enhancers	NHDF-Ad	bronchial
12	chr3:21759000-21761000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:21759000-21761200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:21759400-21760800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:21759400-21760800	Enhancers	HSMM	muscle
16	chr3:21759400-21761200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:21759600-21761600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:21759600-21762000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:21759800-21760600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:21759800-21760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:21759800-21761000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:21759800-21761600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:21759800-21762200	Weak transcription	HSMMtube	muscle
24	chr3:21760000-21760400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:21760000-21760400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:21760000-21760400	Weak transcription	NHLF	lung
27	chr3:21760000-21761000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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