Variant report

Variant	rs17037563
Chromosome Location	chr2:48926788-48926789
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11680604	0.80[YRI][hapmap]
rs17398294	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs35020030	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35530477	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35977964	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4361176	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72807938	0.94[EUR][1000 genomes]
rs7569383	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7583142	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7584253	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv833992	chr2:48814223-48998037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48921600-48949600	Weak transcription	Ovary	ovary
2	chr2:48922200-48926800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:48923400-48926800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:48925400-48927200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:48925800-48926800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:48925800-48927000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:48926200-48927000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:48926200-48927400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:48926200-48927600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:48926400-48927000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:48926400-48927200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:48926400-48927200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:48926400-48927200	Enhancers	Adipose Nuclei	Adipose
14	chr2:48926400-48927200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:48926400-48927200	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:48926400-48927400	Enhancers	Osteobl	bone
17	chr2:48926400-48927600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:48926400-48927800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:48926400-48927800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:48926600-48926800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:48926600-48926800	Enhancers	Colon Smooth Muscle	Colon
22	chr2:48926600-48927000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr2:48926600-48927000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:48926600-48927200	Enhancers	Fetal Lung	lung
25	chr2:48926600-48927400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:48926600-48927800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:48926600-48927800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:48926600-48927800	Enhancers	NH-A	brain

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