Variant report

Variant	rs16846357
Chromosome Location	chr1:226852553-226852554
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	POLR2A	chr1:226849570-226852709	IMR90	lung:	n/a	n/a
2	CTCF	chr1:226852540-226852690	AG10803	skin:	n/a	n/a
3	FOXA1	chr1:226852321-226852722	T-47D	breast:	n/a	chr1:226852541-226852556
4	CTCF	chr1:226852520-226852670	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr1:226852440-226852590	HUVEC	blood vessel:	n/a	n/a
6	JUN	chr1:226852199-226852696	HUVEC	blood vessel:	n/a	n/a
7	FOXA1	chr1:226852348-226852689	T-47D	breast:	n/a	chr1:226852541-226852556

No.	Distal block	Cell Line	Cell type
1	chr1:226828494..226832604-chr1:226851440..226853779,3	K562	blood:
2	chr1:226824237..226826518-chr1:226852192..226855552,3	K562	blood:
3	chr1:226850865..226853471-chr1:226885650..226887593,2	MCF-7	breast:
4	chr1:226844059..226846179-chr1:226852486..226853988,2	K562	blood:

Variant related genes	Relation type
ITPKB-AS1	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12095028	1.00[ASN][1000 genomes]
rs16846351	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16846378	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16846413	1.00[AFR][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]
rs3754398	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754399	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754400	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754401	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754402	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754403	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754406	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754407	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754413	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3768388	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3768389	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3768397	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3768400	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3768416	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3820641	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3820647	0.82[ASN][1000 genomes]
rs4653461	1.00[ASN][1000 genomes]
rs4653464	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4653763	1.00[AFR][1000 genomes]
rs56095953	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58091460	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59173465	1.00[AFR][1000 genomes]
rs60932168	1.00[AFR][1000 genomes]
rs7524854	0.93[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	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:116 , 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	chr1:226840600-226852600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:226840600-226852800	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:226841800-226856200	Enhancers	Brain Angular Gyrus	brain
9	chr1:226841800-226860600	Enhancers	Brain Cingulate Gyrus	brain
10	chr1:226843800-226854400	Enhancers	Brain Hippocampus Middle	brain
11	chr1:226845600-226855600	Enhancers	Placenta	Placenta
12	chr1:226846200-226853000	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr1:226846200-226862400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:226846800-226853000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:226846800-226853000	Enhancers	Colonic Mucosa	Colon
16	chr1:226846800-226854000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:226847000-226852800	Enhancers	Fetal Lung	lung
18	chr1:226847000-226853000	Enhancers	Spleen	Spleen
19	chr1:226847200-226856200	Enhancers	Fetal Muscle Trunk	muscle
20	chr1:226847600-226853000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:226847600-226853200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:226847800-226853200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:226848000-226852600	Enhancers	Fetal Intestine Large	intestine
24	chr1:226848000-226853600	Enhancers	HUVEC	blood vessel
25	chr1:226848200-226852800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:226848200-226853200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:226848400-226853200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:226848400-226853600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:226848600-226854800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:226848800-226853000	Enhancers	Stomach Mucosa	stomach
31	chr1:226849000-226853200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:226849000-226853400	Enhancers	HSMMtube	muscle
33	chr1:226849200-226852800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:226849200-226853400	Weak transcription	Dnd41	blood
35	chr1:226849200-226854600	Enhancers	Colon Smooth Muscle	Colon
36	chr1:226849200-226856200	Enhancers	Right Atrium	heart
37	chr1:226849400-226857200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr1:226849600-226858400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:226849800-226854200	Enhancers	Fetal Stomach	stomach
40	chr1:226850000-226855200	Weak transcription	Fetal Brain Male	brain
41	chr1:226850400-226859400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr1:226850600-226853200	Enhancers	Ovary	ovary
43	chr1:226850600-226855800	Enhancers	Lung	lung
44	chr1:226850600-226856200	Enhancers	Psoas Muscle	Psoas
45	chr1:226850800-226853000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr1:226850800-226855200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:226850800-226855200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr1:226850800-226855400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:226850800-226855600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:226850800-226856400	Enhancers	Brain Anterior Caudate	brain

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