Variant report

Variant	rs11889464
Chromosome Location	chr2:95537501-95537502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10197534	0.80[ASW][hapmap];1.00[CEU][hapmap]
rs10200969	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs11164056	0.89[EUR][1000 genomes]
rs17120062	0.81[ASN][1000 genomes]
rs35803313	0.82[CEU][hapmap]
rs7340222	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2759075	chr2:95358799-95620108	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95534200-95549400	Weak transcription	Right Atrium	heart
2	chr2:95536200-95538200	ZNF genes & repeats	Lung	lung
3	chr2:95536400-95537600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:95536400-95537600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr2:95536400-95537800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr2:95536600-95537600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:95536600-95537800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:95536600-95537800	Bivalent Enhancer	Fetal Lung	lung
9	chr2:95536600-95538000	Bivalent Enhancer	Placenta	Placenta
10	chr2:95536800-95537600	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr2:95536800-95537600	Active TSS	HSMM	muscle
12	chr2:95536800-95537800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr2:95536800-95537800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:95536800-95537800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:95537000-95537600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:95537000-95537600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:95537200-95537600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:95537200-95537600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:95537200-95537600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr2:95537200-95537600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:95537200-95537600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
22	chr2:95537200-95537600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr2:95537200-95537800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:95537200-95537800	Enhancers	Pancreas	Pancrea
25	chr2:95537200-95538400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
26	chr2:95537400-95537600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:95537400-95537600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
28	chr2:95537400-95537600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:95537400-95537600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr2:95537400-95537600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
31	chr2:95537400-95537600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
32	chr2:95537400-95537600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr2:95537400-95537600	Flanking Bivalent TSS/Enh	A549	lung
34	chr2:95537400-95537800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr2:95537400-95537800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:95537400-95537800	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr2:95537400-95537800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr2:95537400-95537800	Enhancers	Gastric	stomach

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