Variant report

Variant	rs9609295
Chromosome Location	chr22:31890577-31890578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr22:31890028-31890600	GM12878	blood:	n/a	n/a
2	NFIC	chr22:31889970-31890665	GM12878	blood:	n/a	n/a
3	FOXM1	chr22:31890072-31890765	GM12878	blood:	n/a	n/a
4	MAZ	chr22:31890214-31890597	GM12878	blood:	n/a	n/a
5	BCLAF1	chr22:31889901-31890655	GM12878	blood:	n/a	n/a
6	TBL1XR1	chr22:31890084-31890607	GM12878	blood:	n/a	n/a
7	BCL3	chr22:31890097-31890610	GM12878	blood:	n/a	n/a
8	PAX5	chr22:31889791-31890749	GM12878	blood:	n/a	n/a
9	IKZF1	chr22:31889992-31890679	GM12878	blood:	n/a	n/a
10	BHLHE40	chr22:31890025-31890627	GM12878	blood:	n/a	n/a
11	MEF2A	chr22:31890073-31890719	GM12878	blood:	n/a	n/a
12	EBF1	chr22:31890064-31890783	GM12878	blood:	n/a	n/a
13	SP1	chr22:31889996-31890622	GM12878	blood:	n/a	n/a
14	RUNX3	chr22:31890014-31890723	GM12878	blood:	n/a	n/a
15	POLR2A	chr22:31890497-31890701	HepG2	liver:	n/a	n/a
16	CEBPB	chr22:31890083-31890693	GM12878	blood:	n/a	n/a
17	PAX5	chr22:31890264-31890625	GM12878	blood:	n/a	n/a
18	PAX5	chr22:31890283-31890593	GM12892	blood:	n/a	n/a
19	MEF2A	chr22:31890025-31890685	GM12878	blood:	n/a	n/a
20	PAX5	chr22:31890275-31890638	GM12878	blood:	n/a	n/a
21	ZNF384	chr22:31889614-31890849	GM12878	blood:	n/a	n/a
22	FOXM1	chr22:31889958-31890690	GM12878	blood:	n/a	n/a
23	BCL11A	chr22:31890124-31890662	GM12878	blood:	n/a	n/a
24	MEF2C	chr22:31890112-31890736	GM12878	blood:	n/a	n/a
25	RUNX3	chr22:31890003-31890737	GM12878	blood:	n/a	n/a
26	MTA3	chr22:31889409-31890797	GM12878	blood:	n/a	n/a
27	NFIC	chr22:31889883-31891031	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:31864703-31891033..22:31936958-31958600	GM12878	blood:
2	22:31864703-31891033..22:31930706-31935473	GM12878	blood:
3	22:31864703-31891033..22:32347255-32351014	K562	blood:
4	chr22:31890350..31892385-chr22:32144551..32147460,2	K562	blood:

No data

Variant related genes	Relation type
EIF4ENIF1	TF binding region
SFI1	TF binding region
ENSG00000229169	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000183530	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs13057504	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2273249	0.86[AMR][1000 genomes]
rs2273251	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34538851	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34545960	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs5749267	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs5749268	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs5749270	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs5749283	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749286	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749291	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749295	0.81[ASN][1000 genomes]
rs5749298	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753610	0.83[AMR][1000 genomes]
rs5753612	0.80[AMR][1000 genomes]
rs5753613	0.83[AMR][1000 genomes]
rs5753615	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs5753621	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753628	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753631	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753648	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753659	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753661	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753664	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753665	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753666	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753669	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753671	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5994394	0.83[AMR][1000 genomes]
rs7284622	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7285619	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7293171	0.80[AMR][1000 genomes]
rs8139625	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8142121	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9606839	0.83[AMR][1000 genomes]
rs9606843	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9606846	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9606847	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9606848	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9606852	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9609277	0.82[AFR][1000 genomes]
rs9609286	0.87[AMR][1000 genomes]
rs9609296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609297	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609299	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609301	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609303	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609304	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9609295	SFI1	cis	Thyroid	GTEx
rs9609295	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31887000-31890600	Weak transcription	Psoas Muscle	Psoas
2	chr22:31887000-31891400	Weak transcription	Left Ventricle	heart
3	chr22:31887000-31891400	Weak transcription	Right Atrium	heart
4	chr22:31887000-31891600	Weak transcription	Right Ventricle	heart
5	chr22:31887000-31892000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:31887000-31892000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:31887000-31892000	Weak transcription	Lung	lung
8	chr22:31887000-31892000	Weak transcription	Pancreas	Pancrea
9	chr22:31887200-31891200	Weak transcription	Fetal Stomach	stomach
10	chr22:31887200-31891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:31887200-31891400	Weak transcription	Colonic Mucosa	Colon
12	chr22:31887200-31891400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr22:31887200-31891400	Weak transcription	Thymus	Thymus
14	chr22:31887200-31891600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:31887200-31891600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr22:31887200-31891600	Weak transcription	Stomach Mucosa	stomach
17	chr22:31887200-31892000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr22:31887400-31891200	Weak transcription	Fetal Intestine Small	intestine
19	chr22:31887400-31891200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr22:31887400-31891400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:31887400-31891400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:31887400-31891400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr22:31887400-31891400	Weak transcription	Adipose Nuclei	Adipose
24	chr22:31887400-31891400	Weak transcription	Brain Angular Gyrus	brain
25	chr22:31887400-31891400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr22:31887400-31891400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr22:31887400-31891400	Weak transcription	Hela-S3	cervix
28	chr22:31887400-31891600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr22:31887400-31891600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:31887400-31891600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr22:31887400-31891600	Weak transcription	Brain Substantia Nigra	brain
32	chr22:31887400-31891600	Weak transcription	Fetal Brain Male	brain
33	chr22:31887400-31891600	Weak transcription	Fetal Kidney	kidney
34	chr22:31887400-31891600	Weak transcription	Fetal Lung	lung
35	chr22:31887400-31891600	Weak transcription	A549	lung
36	chr22:31887400-31891600	Weak transcription	HMEC	breast
37	chr22:31887400-31891600	Weak transcription	HSMM	muscle
38	chr22:31887400-31891600	Weak transcription	HSMMtube	muscle
39	chr22:31887400-31891600	Weak transcription	NH-A	brain
40	chr22:31887400-31891600	Weak transcription	NHDF-Ad	bronchial
41	chr22:31887400-31891600	Weak transcription	Osteobl	bone
42	chr22:31887400-31891800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr22:31887400-31892000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr22:31887400-31892000	Weak transcription	Spleen	Spleen
45	chr22:31887600-31891200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr22:31887600-31891200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr22:31887600-31891400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:31887600-31891400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr22:31887600-31891400	Weak transcription	Liver	Liver
50	chr22:31887600-31891400	Weak transcription	Brain Anterior Caudate	brain

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