Variant report

Variant	rs11930245
Chromosome Location	chr4:122695349-122695350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11930756	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11933339	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11934168	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11942369	1.00[EUR][1000 genomes]
rs17005269	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17005276	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3217770	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4132552	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61639241	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6845842	1.00[EUR][1000 genomes]
rs72915930	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915936	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915942	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915943	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915957	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915958	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72917987	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72917996	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72918000	1.00[EUR][1000 genomes]
rs72919903	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72919909	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs769235	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122689400-122695400	Weak transcription	Fetal Heart	heart
2	chr4:122693000-122697800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:122693800-122695400	Enhancers	GM12878-XiMat	blood
4	chr4:122695000-122695400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr4:122695000-122695400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:122695000-122695600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:122695000-122696000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:122695200-122695400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:122695200-122695400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:122695200-122695400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:122695200-122695600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:122695200-122695600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:122695200-122695600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:122695200-122695600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:122695200-122695600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:122695200-122695600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:122695200-122695800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:122695200-122696000	Enhancers	HUES6 Cell Line	embryonic stem cell

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