Variant report

Variant	rs7355380
Chromosome Location	chr2:233772300-233772301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10200350	0.91[ASN][1000 genomes]
rs11683827	0.83[JPT][hapmap]
rs11685503	0.82[ASW][hapmap];0.86[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.91[MKK][hapmap]
rs11690329	0.94[ASN][1000 genomes]
rs12463466	0.86[GIH][hapmap];0.83[JPT][hapmap]
rs12477794	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13391541	0.93[YRI][hapmap]
rs13398944	0.81[YRI][hapmap]
rs13420824	0.81[YRI][hapmap]
rs13421393	1.00[YRI][hapmap]
rs13430365	0.93[YRI][hapmap]
rs1554218	1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[JPT][hapmap]
rs7584672	0.82[JPT][hapmap]
rs8192539	0.88[CHB][hapmap];0.92[JPT][hapmap]

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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3377192	chr2:233758324-233835472	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7355380	ECEL1	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233757400-233776600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:233759200-233784400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:233764000-233783800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:233766600-233776400	Weak transcription	Liver	Liver
5	chr2:233767000-233789000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:233767200-233776200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:233767200-233790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:233769200-233775400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:233771800-233772400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:233771800-233772400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:233771800-233772400	Enhancers	HepG2	liver
12	chr2:233771800-233772800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:233772000-233772400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:233772000-233772400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:233772000-233772400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:233772000-233772400	Enhancers	A549	lung
17	chr2:233772000-233772600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:233772200-233772800	Enhancers	Brain Germinal Matrix	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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