Variant report

Variant	rs4128351
Chromosome Location	chr3:178708826-178708827
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4076914	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4287947	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4955803	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6762374	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73185378	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73185389	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73185393	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73187208	0.80[ASN][1000 genomes]
rs73187210	0.90[EUR][1000 genomes]
rs7622600	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7645220	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4128351	ZMAT3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178704000-178710000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
2	chr3:178704200-178710600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr3:178705400-178709200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:178706400-178718600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:178706800-178712800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:178707000-178709000	Weak transcription	HSMM	muscle
7	chr3:178707000-178711200	Weak transcription	HSMMtube	muscle
8	chr3:178707000-178718800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:178707200-178710600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:178707400-178711400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:178707600-178709000	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr3:178708200-178712800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:178708400-178715000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:178708400-178715000	Weak transcription	Aorta	Aorta
15	chr3:178708400-178718600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:178708600-178726200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr3:178708800-178713000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:178708800-178737800	Weak transcription	Colon Smooth Muscle	Colon

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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