Variant report

Variant	rs5749265
Chromosome Location	chr22:31796897-31796898
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31686527..31689345-chr22:31795585..31798136,2	MCF-7	breast:
2	chr22:31686029..31689751-chr22:31793811..31797004,3	K562	blood:
3	chr22:31739411..31743940-chr22:31792561..31797746,12	K562	blood:
4	chr22:31793990..31796986-chr22:31884678..31887767,3	K562	blood:
5	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
6	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
7	chr22:31795756..31797975-chr6:82164220..82166358,2	MCF-7	breast:
8	chr22:31796576..31798824-chr22:32026967..32029510,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100100	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1001599	0.92[EUR][1000 genomes]
rs13054220	0.82[EUR][1000 genomes]
rs13057504	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2273249	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2273251	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2899164	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34545960	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4603880	0.86[EUR][1000 genomes]
rs5749267	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749268	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749270	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753597	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753609	0.92[EUR][1000 genomes]
rs5753610	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753612	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753613	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753615	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753618	0.80[ASN][1000 genomes]
rs5753621	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5753628	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5753631	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5994394	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997969	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71324184	0.80[EUR][1000 genomes]
rs714909	0.86[EUR][1000 genomes]
rs715510	0.81[EUR][1000 genomes]
rs7285619	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7287267	0.86[EUR][1000 genomes]
rs7293171	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs738657	0.83[EUR][1000 genomes]
rs8138596	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8139625	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8141150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9606830	0.85[EUR][1000 genomes]
rs9606831	0.86[EUR][1000 genomes]
rs9606839	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9606843	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9609254	0.84[EUR][1000 genomes]
rs9609257	0.83[EUR][1000 genomes]
rs9609264	0.85[EUR][1000 genomes]
rs9609265	0.86[EUR][1000 genomes]
rs9609266	0.85[EUR][1000 genomes]
rs9609267	0.87[EUR][1000 genomes]
rs9609268	0.89[EUR][1000 genomes]
rs9609276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609277	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609286	0.82[AMR][1000 genomes];0.87[EUR][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	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv1816779	chr22:31743711-31797094	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5749265	SFI1	cis	Thyroid	GTEx
rs5749265	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31794800-31797000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr22:31794800-31797000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr22:31794800-31797000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr22:31794800-31797000	Active TSS	GM12878-XiMat	blood
5	chr22:31794800-31797000	Active TSS	K562	blood
6	chr22:31795000-31797000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:31795000-31797000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr22:31795000-31797000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:31795000-31797000	Active TSS	Right Ventricle	heart
10	chr22:31795000-31797000	Active TSS	Hela-S3	cervix
11	chr22:31795000-31797000	Active TSS	HSMM	muscle
12	chr22:31795000-31797000	Active TSS	HSMMtube	muscle
13	chr22:31795000-31797000	Active TSS	NHDF-Ad	bronchial
14	chr22:31795000-31797000	Active TSS	NHLF	lung
15	chr22:31795200-31797000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:31795200-31797000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr22:31795400-31797000	Active TSS	HMEC	breast
18	chr22:31795800-31797000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
19	chr22:31795800-31797000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr22:31795800-31797200	Transcr. at gene 5' and 3'	Dnd41	blood
21	chr22:31796200-31797000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr22:31796200-31797000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:31796200-31797000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:31796200-31797000	Active TSS	HepG2	liver
25	chr22:31796200-31797000	Flanking Active TSS	HUVEC	blood vessel
26	chr22:31796200-31797200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:31796400-31797000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:31796400-31797000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr22:31796400-31797000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr22:31796400-31797000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr22:31796400-31797000	Flanking Active TSS	NHEK	skin
32	chr22:31796400-31797600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:31796400-31799000	Weak transcription	Aorta	Aorta
34	chr22:31796400-31803000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr22:31796600-31797000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:31796600-31797000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr22:31796600-31797000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr22:31796600-31797000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr22:31796600-31797000	Genic enhancers	Placenta	Placenta
40	chr22:31796600-31797200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr22:31796600-31797200	Enhancers	Primary B cells from cord blood	blood
42	chr22:31796600-31797200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr22:31796600-31797200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr22:31796600-31797200	Enhancers	Adipose Nuclei	Adipose
45	chr22:31796600-31797200	Enhancers	Brain Cingulate Gyrus	brain
46	chr22:31796600-31797200	Enhancers	Fetal Heart	heart
47	chr22:31796600-31797600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr22:31796600-31798600	Weak transcription	Ovary	ovary
49	chr22:31796600-31799400	Weak transcription	Fetal Brain Male	brain
50	chr22:31796600-31821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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