Variant report

Variant	rs3789099
Chromosome Location	chr2:111738333-111738334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111736021..111738383-chr2:111741871..111744743,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11885635	0.95[ASN][1000 genomes]
rs11894674	0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs13000679	0.95[ASN][1000 genomes]
rs57757258	0.95[ASN][1000 genomes]
rs57949394	0.95[ASN][1000 genomes]
rs59275547	0.95[ASN][1000 genomes]
rs72944287	0.95[ASN][1000 genomes]
rs72944297	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1005665	chr2:111610107-111762039	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv535892	chr2:111610107-111762039	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111735400-111740600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:111735600-111739600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:111736400-111738600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:111736400-111738600	Enhancers	Fetal Heart	heart
5	chr2:111736600-111738600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:111736600-111738600	Enhancers	Left Ventricle	heart
7	chr2:111736600-111738600	Enhancers	Right Atrium	heart
8	chr2:111737000-111738600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:111737000-111738800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:111737200-111738600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:111737200-111738600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:111737400-111738600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:111737400-111740800	Weak transcription	Fetal Lung	lung
14	chr2:111737600-111738400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:111737600-111738600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:111737600-111738600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:111737600-111738600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:111737800-111738600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:111737800-111738600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:111737800-111738600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:111737800-111738800	Enhancers	Fetal Thymus	thymus
22	chr2:111738000-111738400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr2:111738000-111738600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:111738000-111738600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:111738000-111738600	Enhancers	Dnd41	blood
26	chr2:111738200-111738400	Enhancers	Fetal Muscle Trunk	muscle
27	chr2:111738200-111740400	Weak transcription	Fetal Muscle Leg	muscle

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