Variant report

Variant	rs1327061
Chromosome Location	chr9:22342523-22342524
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:22341545..22344630-chr9:22445904..22448920,6	MCF-7	breast:
2	chr9:22340256..22342869-chr9:22344795..22348562,3	MCF-7	breast:
3	chr9:22341942..22344715-chr9:22446110..22447985,2	MCF-7	breast:
4	chr9:22332925..22335783-chr9:22341287..22343455,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176399	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10113901	0.83[EUR][1000 genomes]
rs10738626	0.89[EUR][1000 genomes]
rs10757307	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10757308	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10757315	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10757316	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10757317	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10757318	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10757319	0.89[EUR][1000 genomes]
rs10811691	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10811699	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10965326	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10965327	0.85[CEU][hapmap];0.94[CHB][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10965333	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10965335	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11534173	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11536672	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12237826	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1327055	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1327056	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1327057	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1327058	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1359741	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1359742	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2383217	0.88[JPT][hapmap]
rs2383220	0.80[EUR][1000 genomes]
rs2383223	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3903983	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4636286	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7038483	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7047631	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs716579	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7872798	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7873035	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7873445	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs943394	0.82[CEU][hapmap];0.82[CHB][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs943395	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs944031	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1029289	chr9:22193167-23023688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016067	chr9:22210874-22432654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1015364	chr9:22211364-22416886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv540086	chr9:22211364-22416886	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1023972	chr9:22246764-22426267	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv540087	chr9:22246764-22426267	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1327061	DMRTA1	cis	Muscle Skeletal	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22341600-22344400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr9:22341800-22343200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:22342000-22343400	Enhancers	A549	lung
4	chr9:22342000-22343400	Enhancers	NH-A	brain
5	chr9:22342000-22343600	Enhancers	HSMM	muscle
6	chr9:22342000-22343600	Enhancers	HSMMtube	muscle
7	chr9:22342400-22342600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:22342400-22342800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:22342400-22342800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:22342400-22342800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:22342400-22342800	Enhancers	Osteobl	bone
12	chr9:22342400-22343000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:22342400-22343000	Enhancers	Hela-S3	cervix
14	chr9:22342400-22343000	Enhancers	HUVEC	blood vessel
15	chr9:22342400-22343000	Enhancers	NHEK	skin
16	chr9:22342400-22343200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:22342400-22343200	Enhancers	Liver	Liver
18	chr9:22342400-22343200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr9:22342400-22343200	Enhancers	HMEC	breast
20	chr9:22342400-22343400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:22342400-22343400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:22342400-22343400	Enhancers	Adipose Nuclei	Adipose

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