Variant report

Variant	rs2866991
Chromosome Location	chr4:79136055-79136056
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:20)

rs_ID	r²[population]
rs10012084	1.00[EUR][1000 genomes]
rs10013723	0.87[AMR][1000 genomes]
rs10034389	1.00[EUR][1000 genomes]
rs17003117	1.00[EUR][1000 genomes]
rs17003122	1.00[EUR][1000 genomes]
rs17003123	1.00[EUR][1000 genomes]
rs17003124	1.00[EUR][1000 genomes]
rs17003125	1.00[EUR][1000 genomes]
rs17003126	1.00[EUR][1000 genomes]
rs28575761	1.00[EUR][1000 genomes]
rs2867002	0.87[AMR][1000 genomes]
rs345528	1.00[EUR][1000 genomes]
rs36067699	1.00[EUR][1000 genomes]
rs41490051	1.00[EUR][1000 genomes]
rs4382062	0.87[AMR][1000 genomes]
rs61739669	1.00[EUR][1000 genomes]
rs6815325	0.87[AMR][1000 genomes]
rs72866337	1.00[EUR][1000 genomes]
rs7678978	0.87[AMR][1000 genomes]
rs9995864	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv879502	chr4:79052851-79144309	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
6	nsv999844	chr4:79092549-79165869	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv879503	chr4:79108589-79163162	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 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	chr4:79121600-79139400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:79124200-79139400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:79126600-79139200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:79127200-79137800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:79129400-79138600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:79129400-79139600	Weak transcription	Pancreas	Pancrea
7	chr4:79131000-79137800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:79131200-79142600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:79131600-79139400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:79132200-79137800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:79132800-79139400	Weak transcription	Fetal Intestine Large	intestine
12	chr4:79134400-79137600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:79134600-79137200	Weak transcription	Fetal Heart	heart
14	chr4:79134600-79137800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:79134600-79139600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:79135000-79143400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:79135600-79136200	Enhancers	Stomach Smooth Muscle	stomach
18	chr4:79135800-79136200	Enhancers	Fetal Intestine Small	intestine
19	chr4:79136000-79136200	Enhancers	Rectal Smooth Muscle	rectum
20	chr4:79136000-79139200	Weak transcription	HepG2	liver

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