Variant report

Variant	rs2025256
Chromosome Location	chr14:24543873-24543874
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	HNF4G	chr14:24543869-24544442	HepG2	liver:	n/a	chr14:24544210-24544228 chr14:24544213-24544226 chr14:24544210-24544225 chr14:24544213-24544225 chr14:24544212-24544226 chr14:24544181-24544196 chr14:24544212-24544227 chr14:24544347-24544369 chr14:24544212-24544227 chr14:24544212-24544225 chr14:24544213-24544225 chr14:24544213-24544225 chr14:24544212-24544226 chr14:24544212-24544227

No.	Distal block	Cell Line	Cell type
1	chr14:24542884..24546835-chr14:24548833..24551522,5	K562	blood:
2	chr14:24543783..24548039-chr14:24613906..24618188,3	K562	blood:
3	chr14:24533744..24538144-chr14:24540947..24543987,3	K562	blood:
4	chr14:24040173..24042645-chr14:24543729..24546206,2	MCF-7	breast:

Variant related genes	Relation type
CPNE6	TF binding region
ENSG00000100911	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000092051	Chromatin interaction
ENSG00000129535	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11549700	1.00[JPT][hapmap]
rs3759622	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1052180	chr14:24429298-24555710	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv516023	chr14:24489605-24550224	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1036658	chr14:24513905-24555710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24522200-24547200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:24522200-24549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:24540800-24545400	Enhancers	Fetal Intestine Small	intestine
4	chr14:24541400-24544600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:24541600-24550200	Weak transcription	Spleen	Spleen
6	chr14:24541800-24545400	Enhancers	Fetal Intestine Large	intestine
7	chr14:24541800-24549800	Weak transcription	Colonic Mucosa	Colon
8	chr14:24542000-24547200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:24542000-24550400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:24542400-24544000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr14:24542400-24547200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:24542600-24544000	Enhancers	Brain Cingulate Gyrus	brain
13	chr14:24543000-24545200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:24543000-24548400	Weak transcription	Fetal Brain Female	brain
15	chr14:24543200-24544000	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr14:24543200-24544400	Bivalent Enhancer	HepG2	liver
17	chr14:24543200-24544600	Enhancers	Pancreas	Pancrea
18	chr14:24543200-24545600	Enhancers	Gastric	stomach
19	chr14:24543200-24545600	Enhancers	Stomach Mucosa	stomach
20	chr14:24543400-24544200	Weak transcription	Brain Anterior Caudate	brain
21	chr14:24543400-24547000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:24543400-24548600	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:24543600-24544000	Flanking Active TSS	Liver	Liver
24	chr14:24543600-24544000	Enhancers	Small Intestine	intestine
25	chr14:24543600-24544600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:24543600-24546800	Weak transcription	Fetal Brain Male	brain
27	chr14:24543600-24548400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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