Variant report

Variant	rs5998011
Chromosome Location	chr22:31889566-31889567
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	USF2	chr22:31889454-31889591	GM12878	blood:	n/a	n/a
2	BHLHE40	chr22:31889379-31889813	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr22:31889444-31889583	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:31889356-31889585	HepG2	liver:	n/a	n/a
5	PML	chr22:31889564-31890330	GM12878	blood:	n/a	n/a
6	MTA3	chr22:31889409-31890797	GM12878	blood:	n/a	n/a
7	EBF1	chr22:31889353-31889754	GM12878	blood:	n/a	n/a

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:

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

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11089512	0.90[ASN][1000 genomes]
rs11089514	0.91[ASN][1000 genomes]
rs11089515	0.85[ASN][1000 genomes]
rs12484606	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13056823	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1543416	0.89[EUR][1000 genomes]
rs2024747	0.88[ASN][1000 genomes]
rs2413053	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3818134	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4535154	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820976	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4820978	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820979	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4820980	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820981	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4820982	0.89[EUR][1000 genomes]
rs4820983	0.89[EUR][1000 genomes]
rs5749287	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749293	0.85[ASN][1000 genomes]
rs5749297	0.84[ASN][1000 genomes]
rs5753647	0.89[ASN][1000 genomes]
rs5753650	0.89[ASN][1000 genomes]
rs5753657	0.91[ASN][1000 genomes]
rs5753667	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753675	0.84[ASN][1000 genomes]
rs5753677	0.85[ASN][1000 genomes]
rs5753680	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753681	0.85[ASN][1000 genomes]
rs5753684	0.91[ASN][1000 genomes]
rs5753686	0.81[EUR][1000 genomes]
rs5753687	0.82[ASN][1000 genomes]
rs59285943	0.89[ASN][1000 genomes]
rs5998016	0.83[AFR][1000 genomes]
rs5998032	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998035	0.88[EUR][1000 genomes]
rs5998042	0.83[EUR][1000 genomes]
rs7288464	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs738656	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9306266	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9621279	0.81[EUR][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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31886800-31890200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:31887000-31889800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:31887000-31890600	Weak transcription	Psoas Muscle	Psoas
4	chr22:31887000-31891400	Weak transcription	Left Ventricle	heart
5	chr22:31887000-31891400	Weak transcription	Right Atrium	heart
6	chr22:31887000-31891600	Weak transcription	Right Ventricle	heart
7	chr22:31887000-31892000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:31887000-31892000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:31887000-31892000	Weak transcription	Lung	lung
10	chr22:31887000-31892000	Weak transcription	Pancreas	Pancrea
11	chr22:31887200-31890200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:31887200-31891200	Weak transcription	Fetal Stomach	stomach
13	chr22:31887200-31891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:31887200-31891400	Weak transcription	Colonic Mucosa	Colon
15	chr22:31887200-31891400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr22:31887200-31891400	Weak transcription	Thymus	Thymus
17	chr22:31887200-31891600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:31887200-31891600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:31887200-31891600	Weak transcription	Stomach Mucosa	stomach
20	chr22:31887200-31892000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr22:31887400-31889600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr22:31887400-31889800	Weak transcription	Fetal Heart	heart
23	chr22:31887400-31891200	Weak transcription	Fetal Intestine Small	intestine
24	chr22:31887400-31891200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr22:31887400-31891400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:31887400-31891400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr22:31887400-31891400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:31887400-31891400	Weak transcription	Adipose Nuclei	Adipose
29	chr22:31887400-31891400	Weak transcription	Brain Angular Gyrus	brain
30	chr22:31887400-31891400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr22:31887400-31891400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr22:31887400-31891400	Weak transcription	Hela-S3	cervix
33	chr22:31887400-31891600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:31887400-31891600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr22:31887400-31891600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr22:31887400-31891600	Weak transcription	Brain Substantia Nigra	brain
37	chr22:31887400-31891600	Weak transcription	Fetal Brain Male	brain
38	chr22:31887400-31891600	Weak transcription	Fetal Kidney	kidney
39	chr22:31887400-31891600	Weak transcription	Fetal Lung	lung
40	chr22:31887400-31891600	Weak transcription	A549	lung
41	chr22:31887400-31891600	Weak transcription	HMEC	breast
42	chr22:31887400-31891600	Weak transcription	HSMM	muscle
43	chr22:31887400-31891600	Weak transcription	HSMMtube	muscle
44	chr22:31887400-31891600	Weak transcription	NH-A	brain
45	chr22:31887400-31891600	Weak transcription	NHDF-Ad	bronchial
46	chr22:31887400-31891600	Weak transcription	Osteobl	bone
47	chr22:31887400-31891800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr22:31887400-31892000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr22:31887400-31892000	Weak transcription	Spleen	Spleen
50	chr22:31887600-31889800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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