Variant report

Variant	rs6893776
Chromosome Location	chr5:111964452-111964453
allele	A/G
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	EBF1	chr5:111964442-111964497	GM12878	blood:	n/a	chr5:111964460-111964470 chr5:111964460-111964469 chr5:111964458-111964471 chr5:111964459-111964470
2	MAFK	chr5:111963978-111964610	H1-hESC	embryonic stem cell:	n/a	chr5:111964171-111964186
3	REST	chr5:111963636-111964627	H1-neurons	neurons:	n/a	n/a
4	EBF1	chr5:111964327-111964559	GM12878	blood:	n/a	chr5:111964460-111964470 chr5:111964460-111964469 chr5:111964458-111964471 chr5:111964459-111964470

Variant related genes	Relation type
ENSG00000250358	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs60579228	0.83[AFR][1000 genomes]
rs6875149	1.00[AMR][1000 genomes]
rs7706970	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111959400-111967000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:111963200-111964800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:111963200-111965000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:111963400-111964600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:111963400-111964600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:111963400-111964800	Enhancers	Fetal Heart	heart
7	chr5:111963400-111965200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:111963600-111964800	Enhancers	Rectal Smooth Muscle	rectum
9	chr5:111963800-111965000	Enhancers	Liver	Liver
10	chr5:111963800-111965200	Enhancers	Fetal Kidney	kidney
11	chr5:111963800-111966200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:111964000-111964600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:111964000-111964600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:111964000-111964600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:111964000-111964600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:111964000-111964600	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr5:111964000-111964600	Enhancers	Brain Germinal Matrix	brain
18	chr5:111964000-111964600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:111964000-111964600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr5:111964000-111964600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr5:111964200-111964600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:111964200-111964600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr5:111964200-111964600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr5:111964200-111964600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:111964200-111964600	Active TSS	Brain Substantia Nigra	brain
26	chr5:111964200-111964800	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr5:111964200-111965200	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr5:111964200-111970400	Weak transcription	Brain Angular Gyrus	brain
29	chr5:111964400-111964600	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr5:111964400-111964600	Flanking Active TSS	Stomach Smooth Muscle	stomach

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