Variant report

Variant	rs1730444
Chromosome Location	chr10:49462354-49462355
allele	A/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	FOS	chr10:49461898-49462383	MCF10A-Er-Src	breast:	n/a	chr10:49462082-49462093
2	FOS	chr10:49461651-49462420	MCF10A-Er-Src	breast:	n/a	chr10:49462082-49462093
3	FOS	chr10:49461859-49462408	MCF10A-Er-Src	breast:	n/a	chr10:49462082-49462093
4	MYC	chr10:49461805-49462359	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr10:49461929-49462375	HUVEC	blood vessel:	n/a	chr10:49462082-49462093

No.	Distal block	Cell Line	Cell type
1	chr10:49462023..49464427-chr10:49493283..49495844,2	MCF-7	breast:
2	chr10:49461805..49464340-chr10:49481362..49483137,2	K562	blood:
3	chr10:49460728..49464367-chr10:49465892..49469453,3	K562	blood:

Variant related genes	Relation type
FRMPD2	TF binding region
ENSG00000170324	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11816450	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12246849	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12262288	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1465605	1.00[JPT][hapmap]
rs1652243	1.00[ASN][1000 genomes]
rs1652245	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs166815	1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs166817	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17009533	1.00[JPT][hapmap]
rs1730445	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1730446	1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1881733	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1881734	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs204006	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2455321	1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2463958	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2652408	1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2698763	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698764	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs280605	1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs280606	1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs280607	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280608	1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs280610	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs280611	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs280615	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs280617	1.00[AMR][1000 genomes]
rs386570	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs399419	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs413065	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs426153	1.00[ASN][1000 genomes]
rs432971	0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs440894	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs440943	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs477693	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs477761	0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4838592	1.00[JPT][hapmap]
rs56061348	0.81[AFR][1000 genomes]
rs57211602	1.00[AMR][1000 genomes]
rs572211	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57415323	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59368050	0.83[AMR][1000 genomes]
rs60503953	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61840508	1.00[ASN][1000 genomes]
rs7068083	1.00[AMR][1000 genomes]
rs7068262	1.00[AMR][1000 genomes]
rs7069773	0.83[AMR][1000 genomes]
rs7073154	1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7092864	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73294264	1.00[ASN][1000 genomes]
rs73296347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73296348	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73296379	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296380	1.00[ASN][1000 genomes]
rs73296381	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73296382	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296386	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73296387	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7915333	1.00[JPT][hapmap];1.00[ASN][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	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895367	chr10:49333754-49491047	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv895370	chr10:49421173-49484698	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr10:49458400-49464000	Weak transcription	Right Atrium	heart
2	chr10:49458800-49463600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:49459000-49463600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr10:49459000-49463600	Enhancers	HMEC	breast
5	chr10:49459800-49463400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr10:49460600-49464600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr10:49460600-49465800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:49460800-49462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:49460800-49466200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:49460800-49469200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:49461400-49463800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:49461600-49463600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:49461800-49463000	Enhancers	Fetal Heart	heart
14	chr10:49461800-49463000	Enhancers	HUVEC	blood vessel
15	chr10:49462000-49462400	Enhancers	Hela-S3	cervix
16	chr10:49462000-49462600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr10:49462000-49462800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:49462000-49462800	Enhancers	Fetal Kidney	kidney
19	chr10:49462000-49463000	Enhancers	NH-A	brain
20	chr10:49462200-49462400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:49462200-49462600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:49462200-49462600	Enhancers	Esophagus	oesophagus
23	chr10:49462200-49462600	Enhancers	Left Ventricle	heart
24	chr10:49462200-49462600	Flanking Active TSS	NHEK	skin
25	chr10:49462200-49462800	Enhancers	Osteobl	bone

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