Variant report

Variant	rs4754829
Chromosome Location	chr11:101884077-101884078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1274901	0.80[CHB][hapmap]
rs1372413	0.82[CHB][hapmap]
rs1441924	0.85[ASN][1000 genomes]
rs1616065	0.81[ASN][1000 genomes]
rs1661412	0.82[CHB][hapmap]
rs1783742	0.82[CHB][hapmap]
rs1783745	0.90[ASN][1000 genomes]
rs3133381	0.83[ASN][1000 genomes]
rs3740931	0.82[CHB][hapmap]
rs7942191	0.82[CHB][hapmap]
rs880474	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4754829	MMP7	cis	cerebellum	SCAN
rs4754829	C11orf70	cis	cerebellum	SCAN
rs4754829	KIAA1377	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101879400-101884400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:101880400-101884600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr11:101880800-101885800	Enhancers	Placenta	Placenta
4	chr11:101881800-101885400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:101882600-101884600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:101882600-101887400	Weak transcription	Osteobl	bone
7	chr11:101882800-101887600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:101882800-101887600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:101883000-101887600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:101883200-101884200	Enhancers	Dnd41	blood
11	chr11:101883200-101884200	Enhancers	HepG2	liver
12	chr11:101883200-101884600	Enhancers	Fetal Thymus	thymus
13	chr11:101883400-101884200	Enhancers	Thymus	Thymus
14	chr11:101883400-101884400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:101883600-101884200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:101883600-101884200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:101883800-101884400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:101884000-101884200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr11:101884000-101885400	Weak transcription	NHEK	skin

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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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