Variant report

Variant	rs4653763
Chromosome Location	chr1:226853891-226853892
allele	A/G
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	MAX	chr1:226853753-226854073	NB4	blood:	n/a	chr1:226853873-226853883 chr1:226853955-226853964 chr1:226853912-226853922
2	RUNX3	chr1:226853443-226853976	GM12878	blood:	n/a	n/a
3	RUNX3	chr1:226853470-226853895	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:226847991..226850832-chr1:226852889..226855644,2	MCF-7	breast:
2	chr1:226824237..226826518-chr1:226852192..226855552,3	K562	blood:
3	chr1:226844059..226846179-chr1:226852486..226853988,2	K562	blood:
4	chr1:226843493..226845311-chr1:226852768..226855462,2	MCF-7	breast:

Variant related genes	Relation type
ITPKB-AS1	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16846351	1.00[AFR][1000 genomes]
rs16846357	1.00[AFR][1000 genomes]
rs16846409	0.90[AMR][1000 genomes]
rs16846413	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs16846452	1.00[AFR][1000 genomes]
rs16846458	1.00[AFR][1000 genomes]
rs16846461	1.00[AFR][1000 genomes]
rs16846464	1.00[AFR][1000 genomes]
rs16846466	1.00[AFR][1000 genomes]
rs3754409	0.90[AMR][1000 genomes]
rs3754413	1.00[AFR][1000 genomes]
rs3768400	1.00[AFR][1000 genomes]
rs3768416	1.00[AFR][1000 genomes]
rs4653463	0.81[AMR][1000 genomes]
rs4653464	1.00[AFR][1000 genomes]
rs4653765	0.81[AMR][1000 genomes]
rs56095953	1.00[AFR][1000 genomes]
rs59173465	1.00[AFR][1000 genomes]
rs60932168	1.00[AFR][1000 genomes];0.90[AMR][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	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226836800-226856200	Enhancers	Left Ventricle	heart
2	chr1:226837400-226856200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:226837400-226856600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr1:226837400-226856600	Enhancers	Brain Substantia Nigra	brain
5	chr1:226839400-226856200	Enhancers	Fetal Muscle Leg	muscle
6	chr1:226841800-226856200	Enhancers	Brain Angular Gyrus	brain
7	chr1:226841800-226860600	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:226843800-226854400	Enhancers	Brain Hippocampus Middle	brain
9	chr1:226845600-226855600	Enhancers	Placenta	Placenta
10	chr1:226846200-226862400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:226846800-226854000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:226847200-226856200	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:226848600-226854800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:226849200-226854600	Enhancers	Colon Smooth Muscle	Colon
15	chr1:226849200-226856200	Enhancers	Right Atrium	heart
16	chr1:226849400-226857200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:226849600-226858400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:226849800-226854200	Enhancers	Fetal Stomach	stomach
19	chr1:226850000-226855200	Weak transcription	Fetal Brain Male	brain
20	chr1:226850400-226859400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:226850600-226855800	Enhancers	Lung	lung
22	chr1:226850600-226856200	Enhancers	Psoas Muscle	Psoas
23	chr1:226850800-226855200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:226850800-226855200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr1:226850800-226855400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:226850800-226855600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:226850800-226856400	Enhancers	Brain Anterior Caudate	brain
28	chr1:226851000-226854000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:226851000-226855200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:226851000-226855600	Weak transcription	Aorta	Aorta
31	chr1:226851200-226855600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:226851200-226855800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:226851200-226856000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:226851200-226856200	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr1:226851400-226859000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr1:226851600-226854000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:226851600-226855400	Genic enhancers	Fetal Thymus	thymus
38	chr1:226851600-226863800	Weak transcription	NHEK	skin
39	chr1:226851800-226856200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr1:226851800-226863800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:226851800-226864000	Weak transcription	HMEC	breast
42	chr1:226852000-226854000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:226852000-226854600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:226852200-226854000	Enhancers	NHLF	lung
45	chr1:226852200-226854200	Enhancers	NHDF-Ad	bronchial
46	chr1:226852200-226854400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:226852200-226855800	Genic enhancers	Primary T cells from cord blood	blood
48	chr1:226852200-226855800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:226852200-226856000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:226852200-226856200	Enhancers	Duodenum Smooth Muscle	Duodenum

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