Variant report

Variant	rs1468817
Chromosome Location	chr2:66916737-66916738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:66916669-66917194	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000232046	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1014299	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834248	chr2:66756873-66970378	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:66912000-66918200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:66914000-66918000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:66914200-66918000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:66914200-66918200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:66914200-66918400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:66914400-66918000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:66914400-66918200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:66914400-66918200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:66914800-66917400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:66914800-66917600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:66915000-66917600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:66915400-66916800	Enhancers	Fetal Kidney	kidney
13	chr2:66915400-66917600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:66915400-66917600	Enhancers	Fetal Stomach	stomach
15	chr2:66915600-66918000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:66916000-66916800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:66916000-66916800	Flanking Active TSS	Rectal Smooth Muscle	rectum
18	chr2:66916000-66917000	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr2:66916400-66917400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:66916600-66916800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:66916600-66917000	Flanking Active TSS	Fetal Lung	lung
22	chr2:66916600-66917800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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