Variant report

Variant	rs17816380
Chromosome Location	chr4:89830242-89830243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11944041	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11945494	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13109149	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs13118412	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13125590	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13131811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13132415	0.89[AFR][1000 genomes]
rs1458556	0.95[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17815990	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17816002	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56837788	0.99[ASN][1000 genomes]
rs62310474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665823	0.99[ASN][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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv998651	chr4:89800245-89933445	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv537175	chr4:89800245-89933445	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv879532	chr4:89811195-89917135	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89820000-89859200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:89824600-89834000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:89825000-89831200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:89825600-89878400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:89826000-89832600	Weak transcription	Adipose Nuclei	Adipose
6	chr4:89826000-89839600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:89826400-89838400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:89826600-89836200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:89827200-89837400	Weak transcription	Fetal Lung	lung
10	chr4:89827200-89847000	Weak transcription	Placenta	Placenta
11	chr4:89827400-89847000	Weak transcription	Ovary	ovary
12	chr4:89828000-89847000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:89828600-89830600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:89829200-89839400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:89829400-89835600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:89829800-89831000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr4:89830000-89831200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:89830200-89831200	Weak transcription	Fetal Intestine Large	intestine
19	chr4:89830200-89833400	Weak transcription	Fetal Intestine Small	intestine
20	chr4:89830200-89833400	Weak transcription	Pancreas	Pancrea

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