Variant report

Variant	rs16846452
Chromosome Location	chr1:226927961-226927962
allele	A/C
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	BHLHE40	chr1:226926945-226927970	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ITPKB	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1124377	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12072939	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12735680	0.86[AMR][1000 genomes]
rs16846351	1.00[AFR][1000 genomes]
rs16846357	1.00[AFR][1000 genomes]
rs16846413	1.00[AFR][1000 genomes]
rs16846458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16846461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16846464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16846466	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3754406	0.86[AMR][1000 genomes]
rs3754407	0.86[AMR][1000 genomes]
rs3754413	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs3754417	0.83[AMR][1000 genomes]
rs3768397	0.86[AMR][1000 genomes]
rs3768400	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3768416	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs3820647	0.90[AMR][1000 genomes]
rs41490347	0.86[AMR][1000 genomes]
rs4653464	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4653763	1.00[AFR][1000 genomes]
rs4653769	0.83[AMR][1000 genomes]
rs4653770	0.86[AMR][1000 genomes]
rs56095953	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs59173465	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60932168	1.00[AFR][1000 genomes]
rs835653	0.86[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	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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226926800-226928000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr1:226927000-226928600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:226927000-226928800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:226927000-226928800	Weak transcription	Esophagus	oesophagus
5	chr1:226927000-226928800	Weak transcription	Lung	lung
6	chr1:226927000-226928800	Weak transcription	Spleen	Spleen
7	chr1:226927000-226929000	Enhancers	Brain Germinal Matrix	brain
8	chr1:226927200-226928000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:226927200-226928000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr1:226927200-226928000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr1:226927200-226928000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:226927200-226928000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:226927200-226928000	Enhancers	Small Intestine	intestine
14	chr1:226927200-226928000	Flanking Active TSS	Dnd41	blood
15	chr1:226927200-226928200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:226927200-226928800	Weak transcription	Psoas Muscle	Psoas
17	chr1:226927200-226929200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:226927200-226929400	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:226927400-226928000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:226927400-226928000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr1:226927400-226928000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr1:226927400-226928000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr1:226927400-226928000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:226927400-226928000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:226927400-226928000	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr1:226927400-226928000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr1:226927400-226928000	Enhancers	Fetal Intestine Small	intestine
28	chr1:226927400-226928000	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr1:226927400-226928000	Enhancers	Stomach Mucosa	stomach
30	chr1:226927400-226928000	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr1:226927400-226928200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:226927400-226928200	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr1:226927400-226928200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr1:226927400-226928200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr1:226927400-226928200	Enhancers	Fetal Muscle Leg	muscle
36	chr1:226927400-226928200	Flanking Active TSS	GM12878-XiMat	blood
37	chr1:226927400-226929200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:226927400-226929600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:226927600-226928000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
40	chr1:226927600-226928000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr1:226927600-226928000	Enhancers	Adipose Nuclei	Adipose
42	chr1:226927600-226928000	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr1:226927600-226928000	Enhancers	Fetal Intestine Large	intestine
44	chr1:226927600-226928000	Enhancers	Placenta	Placenta
45	chr1:226927600-226928000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr1:226927600-226928000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr1:226927600-226928000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr1:226927600-226928000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:226927600-226928200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr1:226927600-226928200	Enhancers	Cortex derived primary cultured neurospheres	brain

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