Variant report

Variant	rs61638172
Chromosome Location	chr3:50571640-50571641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50564906..50567143-chr3:50571268..50573066,2	MCF-7	breast:
2	chr3:50566678..50573015-chr3:50574866..50578180,7	K562	blood:
3	chr3:50554028..50556198-chr3:50571614..50573494,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs58124375	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58407586	1.00[AMR][1000 genomes]
rs59164803	0.81[AFR][1000 genomes]
rs59336516	1.00[AMR][1000 genomes]
rs59896933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60204288	1.00[AMR][1000 genomes]
rs72932949	1.00[AMR][1000 genomes]
rs72932966	1.00[AMR][1000 genomes]
rs72932994	1.00[AMR][1000 genomes]
rs72934811	1.00[AMR][1000 genomes]
rs72936964	1.00[AMR][1000 genomes]
rs72936978	1.00[AMR][1000 genomes]
rs72938724	1.00[AMR][1000 genomes]
rs72938734	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938735	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938738	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938740	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940706	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942760	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
6	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv460532	chr3:50536273-50616049	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv590272	chr3:50536273-50616049	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50567600-50574400	Weak transcription	Spleen	Spleen
2	chr3:50569800-50572000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:50569800-50573000	Bivalent Enhancer	Fetal Stomach	stomach
4	chr3:50570200-50572000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:50570200-50572600	Bivalent Enhancer	Fetal Intestine Large	intestine
6	chr3:50570200-50572800	Enhancers	Fetal Intestine Small	intestine
7	chr3:50570200-50575000	Weak transcription	Fetal Kidney	kidney
8	chr3:50570200-50576400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:50570400-50571800	Enhancers	Brain Germinal Matrix	brain
10	chr3:50570600-50571800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:50570600-50571800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:50570800-50572600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:50570800-50573000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:50571000-50572400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:50571200-50573000	Enhancers	Fetal Muscle Leg	muscle
16	chr3:50571400-50571800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:50571400-50572000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:50571400-50572000	Enhancers	Fetal Lung	lung
19	chr3:50571400-50572400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:50571400-50576400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:50571600-50571800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr3:50571600-50571800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr3:50571600-50572000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr3:50571600-50573000	Enhancers	Fetal Muscle Trunk	muscle
25	chr3:50571600-50576200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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