Variant report

Variant	rs1110033
Chromosome Location	chr1:226928864-226928865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr1:226928692-226929126	GM12878	blood:	n/a	n/a
2	MAX	chr1:226928789-226929155	GM12878	blood:	n/a	n/a
3	TCF12	chr1:226928852-226929114	GM12878	blood:	n/a	n/a
4	PAX5	chr1:226928722-226929085	GM12878	blood:	n/a	n/a
5	PAX5	chr1:226928601-226929177	GM12878	blood:	n/a	n/a
6	RUNX3	chr1:226928666-226929197	GM12878	blood:	n/a	n/a
7	CREB1	chr1:226928642-226929216	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr1:226928797-226928973	GM12878	blood:	n/a	n/a
9	ZNF384	chr1:226928641-226928927	GM12878	blood:	n/a	n/a
10	RUNX3	chr1:226928637-226929168	GM12878	blood:	n/a	n/a
11	TCF12	chr1:226928789-226929111	GM12878	blood:	n/a	n/a
12	BATF	chr1:226928751-226929030	GM12878	blood:	n/a	n/a
13	ATF2	chr1:226928616-226929215	GM12878	blood:	n/a	n/a
14	TCF3	chr1:226928855-226929070	GM12878	blood:	n/a	n/a
15	TCF3	chr1:226928771-226929154	GM12878	blood:	n/a	n/a
16	PAX5	chr1:226928778-226929065	GM12892	blood:	n/a	n/a
17	KAP1	chr1:226928714-226929117	U2OS	brain:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226928679..226930371-chr1:226951340..226954074,2	K562	blood:
2	chr1:226924164..226926257-chr1:226927974..226930437,2	K562	blood:

No data

Variant related genes	Relation type
ITPKB	TF binding region
ENSG00000143772	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1097296	0.94[EUR][1000 genomes]
rs4653465	0.97[EUR][1000 genomes]
rs4653466	0.89[ASN][1000 genomes]
rs6662601	1.00[EUR][1000 genomes]
rs6694031	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6700213	0.89[ASN][1000 genomes]
rs6703275	0.89[ASN][1000 genomes]
rs708777	0.98[EUR][1000 genomes]
rs708778	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs708779	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs835667	0.97[EUR][1000 genomes]
rs835671	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9426597	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1110033	ARF1	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226927000-226929000	Enhancers	Brain Germinal Matrix	brain
2	chr1:226927200-226929200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:226927200-226929400	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:226927400-226929200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:226927400-226929600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:226927600-226929000	Enhancers	Colon Smooth Muscle	Colon
7	chr1:226927600-226929000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr1:226927600-226929200	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:226927600-226929200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:226927600-226929600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:226927600-226930200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:226927800-226929200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:226927800-226929400	Enhancers	Fetal Thymus	thymus
14	chr1:226927800-226929800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:226928000-226929000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:226928000-226929000	Enhancers	Brain Anterior Caudate	brain
17	chr1:226928000-226929400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:226928000-226929600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr1:226928000-226929600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:226928000-226929800	Enhancers	Primary B cells from cord blood	blood
21	chr1:226928000-226929800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr1:226928000-226929800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:226928200-226929000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:226928200-226929200	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:226928200-226929400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:226928200-226929400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:226928200-226929400	Enhancers	Thymus	Thymus
28	chr1:226928200-226929600	Enhancers	GM12878-XiMat	blood
29	chr1:226928200-226929800	Enhancers	Primary T cells from cord blood	blood
30	chr1:226928200-226930400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr1:226928400-226929000	Weak transcription	Brain Substantia Nigra	brain
32	chr1:226928600-226929000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr1:226928800-226929000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr1:226928800-226929000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:226928800-226929000	Enhancers	Esophagus	oesophagus
36	chr1:226928800-226929000	Enhancers	Lung	lung
37	chr1:226928800-226929000	Enhancers	Psoas Muscle	Psoas
38	chr1:226928800-226929000	Enhancers	Spleen	Spleen
39	chr1:226928800-226929200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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