Variant report

Variant	rs8135281
Chromosome Location	chr22:23726269-23726270
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	SIN3A	chr22:23726093-23726323	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
CES5AP1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4822391	0.95[ASN][1000 genomes]
rs4822392	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5751643	0.88[ASN][1000 genomes]
rs5759756	0.91[ASN][1000 genomes]
rs5759761	0.95[ASN][1000 genomes]
rs6003669	1.00[ASN][1000 genomes]
rs6003673	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6003683	0.86[ASN][1000 genomes]
rs6003684	0.86[ASN][1000 genomes]
rs60266652	0.87[ASN][1000 genomes]
rs66612439	0.91[ASN][1000 genomes]
rs7285485	0.83[ASN][1000 genomes]
rs7285494	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7287337	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8135826	0.86[ASN][1000 genomes]
rs9608138	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv9876	chr22:23563331-23923059	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv482557	chr22:23584948-23741799	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv531550	chr22:23589667-24012550	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	esv2762117	chr22:23592136-23996869	Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1063476	chr22:23596683-23989388	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv544617	chr22:23596683-23989388	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1059951	chr22:23597270-23973060	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv1060339	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv544618	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv1059384	chr22:23614429-23984195	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv544619	chr22:23614429-23984195	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv588601	chr22:23632665-23979219	Bivalent Enhancer Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv914579	chr22:23650987-23995056	Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	nsv1057910	chr22:23704457-23750847	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv914580	chr22:23720420-23757964	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv914581	chr22:23720420-23995056	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv914582	chr22:23723721-23750847	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv914583	chr22:23723721-23752398	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23708800-23728200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr22:23723800-23728600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:23724400-23726800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:23725000-23727000	Enhancers	Gastric	stomach
5	chr22:23725000-23728600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:23725200-23726800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr22:23725200-23727400	Enhancers	Brain Germinal Matrix	brain
8	chr22:23725200-23728600	Enhancers	Fetal Muscle Leg	muscle
9	chr22:23725200-23728800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr22:23725400-23736800	Weak transcription	Fetal Brain Female	brain
11	chr22:23725600-23727000	Enhancers	Fetal Intestine Large	intestine
12	chr22:23725600-23727600	Enhancers	Primary hematopoietic stem cells	blood
13	chr22:23725600-23728000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr22:23725600-23728600	Enhancers	Brain Cingulate Gyrus	brain
15	chr22:23725800-23726600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:23725800-23726600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr22:23725800-23726600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr22:23725800-23726600	Bivalent Enhancer	Placenta	Placenta
19	chr22:23725800-23726800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr22:23725800-23726800	Enhancers	HSMMtube	muscle
21	chr22:23725800-23727000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr22:23725800-23727000	Enhancers	Brain Substantia Nigra	brain
23	chr22:23725800-23727000	Enhancers	Fetal Lung	lung
24	chr22:23725800-23727400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr22:23725800-23727600	Enhancers	Brain Hippocampus Middle	brain
26	chr22:23725800-23727800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:23726000-23726400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr22:23726000-23726400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr22:23726000-23726400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr22:23726000-23726600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr22:23726000-23726600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr22:23726000-23726600	Bivalent Enhancer	Colonic Mucosa	Colon
33	chr22:23726000-23726600	Enhancers	Fetal Thymus	thymus
34	chr22:23726000-23726600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr22:23726000-23726800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:23726000-23726800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:23726000-23726800	Enhancers	Fetal Brain Male	brain
38	chr22:23726000-23727000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr22:23726000-23727000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr22:23726000-23727000	Enhancers	Brain Angular Gyrus	brain
41	chr22:23726000-23727000	Enhancers	Right Ventricle	heart
42	chr22:23726000-23727400	Enhancers	Fetal Intestine Small	intestine
43	chr22:23726200-23726400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr22:23726200-23726600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr22:23726200-23726600	Enhancers	Primary B cells from cord blood	blood
46	chr22:23726200-23726600	Bivalent Enhancer	HepG2	liver
47	chr22:23726200-23726800	Enhancers	Brain Anterior Caudate	brain
48	chr22:23726200-23726800	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr22:23726200-23728000	Enhancers	Fetal Stomach	stomach
50	chr22:23726200-23728600	Enhancers	Ovary	ovary

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