Variant report

Variant	rs17044872
Chromosome Location	chr2:53747284-53747285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11892725	1.00[ASN][1000 genomes]
rs17044784	1.00[CHB][hapmap]
rs17044841	1.00[ASN][1000 genomes]
rs55907222	1.00[ASN][1000 genomes]
rs57574639	1.00[ASN][1000 genomes]
rs6720273	1.00[CHB][hapmap]
rs6751127	1.00[CHB][hapmap]
rs6759361	1.00[CHB][hapmap]
rs6759454	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv999571	chr2:53690538-53775723	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1012754	chr2:53690538-53785037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv457873	chr2:53701324-53785037	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv582009	chr2:53701324-53785037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv457886	chr2:53722595-53835083	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv582010	chr2:53722595-53835083	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1812833	chr2:53744110-53765801	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53740000-53747400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:53742400-53747600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:53743400-53747800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:53743600-53747400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:53746600-53747600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:53746600-53748200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:53747000-53748000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:53747000-53748000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:53747000-53748000	Enhancers	Brain Anterior Caudate	brain
10	chr2:53747000-53748000	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:53747000-53748000	Enhancers	Fetal Brain Female	brain
12	chr2:53747000-53748200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:53747000-53748200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:53747000-53748200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:53747000-53748200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:53747000-53748200	Enhancers	Pancreas	Pancrea
17	chr2:53747000-53748200	Enhancers	HSMMtube	muscle
18	chr2:53747000-53748400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:53747000-53748400	Enhancers	Brain Angular Gyrus	brain
20	chr2:53747000-53748400	Enhancers	Brain Substantia Nigra	brain
21	chr2:53747000-53748400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr2:53747000-53748600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:53747200-53747400	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr2:53747200-53747600	Enhancers	Fetal Kidney	kidney
25	chr2:53747200-53747800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:53747200-53748000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:53747200-53748000	Enhancers	Fetal Brain Male	brain
28	chr2:53747200-53748200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:53747200-53748200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:53747200-53748200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:53747200-53748200	Enhancers	Brain Hippocampus Middle	brain
32	chr2:53747200-53748200	Enhancers	Fetal Muscle Leg	muscle
33	chr2:53747200-53748400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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