Variant report

Variant	rs4669769
Chromosome Location	chr2:11817812-11817813
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr2:11817373-11817932	H1-hESC	embryonic stem cell:	n/a	chr2:11817445-11817461
2	TBP	chr2:11817478-11817848	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr2:11817400-11817917	H1-hESC	embryonic stem cell:	n/a	chr2:11817447-11817458 chr2:11817797-11817806

Variant related genes	Relation type
ENSG00000228496	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12612207	0.95[CHB][hapmap]
rs4233897	1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[LWK][hapmap];0.84[MKK][hapmap];0.98[ASN][1000 genomes]
rs4358094	1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.87[YRI][hapmap];0.99[ASN][1000 genomes]
rs4669765	0.82[TSI][hapmap];0.81[AMR][1000 genomes]
rs4669767	0.95[CHB][hapmap]
rs7568123	0.86[ASN][1000 genomes]
rs7575374	0.80[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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11816000-11818000	Bivalent Enhancer	HepG2	liver
2	chr2:11816000-11818200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:11816400-11818000	Bivalent Enhancer	NHLF	lung
4	chr2:11816400-11818800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:11816400-11823200	Enhancers	Ovary	ovary
6	chr2:11816600-11819200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr2:11816800-11818000	Enhancers	Left Ventricle	heart
8	chr2:11816800-11818800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:11817000-11818000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr2:11817000-11818000	Enhancers	Right Atrium	heart
11	chr2:11817000-11818000	Enhancers	Right Ventricle	heart
12	chr2:11817000-11818200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:11817000-11818400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:11817000-11818400	Weak transcription	Brain Substantia Nigra	brain
15	chr2:11817000-11818600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:11817000-11818800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:11817200-11818400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:11817200-11818400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr2:11817200-11818400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:11817400-11818000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr2:11817400-11819000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:11817400-11819000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:11817400-11819600	Weak transcription	Hela-S3	cervix
24	chr2:11817600-11818200	Flanking Active TSS	Psoas Muscle	Psoas
25	chr2:11817600-11818200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr2:11817600-11819400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr2:11817600-11820000	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr2:11817800-11818000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:11817800-11818000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:11817800-11818400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:11817800-11818400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:11817800-11819400	Active TSS	Brain Anterior Caudate	brain

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