Variant report

Variant	rs73449235
Chromosome Location	chr7:126215277-126215278
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:126085913-126088095..7:126213565-126217000	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs58768465	1.00[AMR][1000 genomes]
rs59966379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60356312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60739229	1.00[AMR][1000 genomes]
rs61141784	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61758766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61758827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6944201	1.00[AMR][1000 genomes]
rs73447010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73447022	1.00[AMR][1000 genomes]
rs73447033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73447039	1.00[AFR][1000 genomes]
rs73449023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449077	1.00[AMR][1000 genomes]
rs73449083	1.00[AMR][1000 genomes]
rs73449091	1.00[AMR][1000 genomes]
rs73449094	1.00[AMR][1000 genomes]
rs73449097	1.00[AMR][1000 genomes]
rs73449223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1028204	chr7:125897362-126225444	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv539118	chr7:125897362-126225444	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv521803	chr7:126149319-126219766	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126214000-126215400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr7:126214200-126215400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:126214200-126215400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:126214200-126215400	Enhancers	HSMMtube	muscle
5	chr7:126214200-126216000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:126214400-126215400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:126214600-126215400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:126214600-126215400	Flanking Active TSS	HMEC	breast
9	chr7:126214600-126215400	Flanking Active TSS	NHEK	skin
10	chr7:126214800-126215400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:126214800-126215400	Flanking Active TSS	HSMM	muscle
12	chr7:126215000-126215400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:126215000-126215400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:126215000-126215400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:126215000-126215400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:126215000-126215400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:126215000-126215400	Enhancers	NH-A	brain
18	chr7:126215000-126216200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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