Variant report

Variant	rs5749286
Chromosome Location	chr22:31900359-31900360
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr22:31900322-31900609	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr22:31900299-31900814	IMR90	lung:	n/a	n/a
3	FOS	chr22:31900320-31900572	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31895644..31897585-chr22:31899488..31902230,2	K562	blood:
2	chr22:31883080..31888273-chr22:31897152..31901136,10	MCF-7	breast:
3	chr22:31892433..31894421-chr22:31898516..31901632,3	K562	blood:
4	chr22:31884404..31886896-chr22:31898271..31902090,3	MCF-7	breast:
5	chr22:31892596..31895248-chr22:31897166..31900535,3	MCF-7	breast:
6	chr22:31895925..31897585-chr22:31899327..31902230,2	K562	blood:

No data

Variant related genes	Relation type
SFI1	TF binding region
ENSG00000198089	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1018490	0.86[CHD][hapmap];0.81[JPT][hapmap]
rs13057504	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1543416	0.82[JPT][hapmap]
rs1968023	0.83[CEU][hapmap];1.00[LWK][hapmap];0.84[TSI][hapmap]
rs2273249	0.80[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes]
rs2273251	0.80[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2899164	0.80[CEU][hapmap];0.91[CHB][hapmap]
rs34538851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34545960	0.90[AFR][1000 genomes]
rs4603880	0.83[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap]
rs4820983	0.82[JPT][hapmap]
rs5749267	0.90[AFR][1000 genomes]
rs5749268	0.90[AFR][1000 genomes]
rs5749270	0.90[AFR][1000 genomes]
rs5749283	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749291	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749295	0.83[ASN][1000 genomes]
rs5749298	0.82[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753601	0.80[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap]
rs5753609	0.82[TSI][hapmap]
rs5753615	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs5753618	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap]
rs5753621	0.88[CHB][hapmap];0.84[JPT][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5753628	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753631	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753632	0.80[CEU][hapmap];0.82[TSI][hapmap]
rs5753639	0.80[CEU][hapmap];0.82[TSI][hapmap]
rs5753648	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753666	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753669	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753671	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753686	0.82[JPT][hapmap]
rs5753698	0.82[ASW][hapmap];1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap]
rs5753723	0.83[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs5998058	0.82[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs5998067	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap]
rs714909	0.85[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap]
rs7284622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7285619	0.82[ASW][hapmap];0.80[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs738657	0.80[CEU][hapmap]
rs8138525	0.82[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap]
rs8139625	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs8142121	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8142355	1.00[LWK][hapmap]
rs9606839	0.82[ASW][hapmap];0.80[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap]
rs9606843	0.82[ASW][hapmap];0.84[CEU][hapmap];0.91[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9606846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9606847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606848	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606852	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9609286	0.82[AMR][1000 genomes]
rs9609295	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9609296	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9609297	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9609299	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9609301	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9609303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9609304	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609329	1.00[CEU][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1060776	chr22:31869892-31900359	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3334530	chr22:31889221-31909085	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1059314	chr22:31893613-31936088	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv914978	chr22:31897795-31942770	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs5749286	PISD	cis	cerebellum	SCAN
rs5749286	SFI1	cis	Thyroid	GTEx
rs5749286	SFI1	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31893000-31905200	Weak transcription	Aorta	Aorta
2	chr22:31893200-31903600	Weak transcription	Left Ventricle	heart
3	chr22:31893200-31912200	Weak transcription	Small Intestine	intestine
4	chr22:31893200-31934800	Weak transcription	Ovary	ovary
5	chr22:31893400-31905200	Weak transcription	Fetal Intestine Large	intestine
6	chr22:31893400-31907200	Weak transcription	Fetal Intestine Small	intestine
7	chr22:31893400-31909000	Weak transcription	Liver	Liver
8	chr22:31893400-31920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:31893600-31904600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:31893600-31904600	Weak transcription	A549	lung
12	chr22:31893600-31904800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr22:31893600-31907000	Weak transcription	Lung	lung
14	chr22:31893600-31909000	Weak transcription	Fetal Brain Male	brain
15	chr22:31893600-31925600	Weak transcription	Gastric	stomach
16	chr22:31893600-31926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:31893600-31928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:31893600-31934800	Weak transcription	Pancreas	Pancrea
19	chr22:31893600-31946600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
21	chr22:31893800-31900600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:31893800-31904800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr22:31893800-31907000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr22:31893800-31907400	Weak transcription	Right Ventricle	heart
25	chr22:31893800-31913400	Weak transcription	Fetal Muscle Leg	muscle
26	chr22:31893800-31914600	Weak transcription	HepG2	liver
27	chr22:31893800-31921800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr22:31893800-31924600	Weak transcription	Adipose Nuclei	Adipose
29	chr22:31893800-31924600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr22:31893800-31925200	Weak transcription	Brain Hippocampus Middle	brain
31	chr22:31893800-31925400	Weak transcription	Brain Angular Gyrus	brain
32	chr22:31893800-31925600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr22:31893800-31926400	Weak transcription	Fetal Lung	lung
34	chr22:31893800-31927000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr22:31893800-31934800	Weak transcription	HMEC	breast
36	chr22:31893800-31945600	Weak transcription	Brain Anterior Caudate	brain
37	chr22:31894000-31902800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:31894000-31903200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr22:31894000-31903200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr22:31894000-31904600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr22:31894000-31904800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr22:31894000-31905200	Weak transcription	Thymus	Thymus
43	chr22:31894000-31913200	Weak transcription	K562	blood
44	chr22:31894000-31926400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr22:31894000-31946600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:31894000-31946600	Weak transcription	Fetal Brain Female	brain
47	chr22:31894400-31907200	Weak transcription	Fetal Stomach	stomach
48	chr22:31894400-31913600	Weak transcription	Primary B cells from cord blood	blood
49	chr22:31895200-31906200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr22:31895400-31931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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