Variant report

Variant	rs11914186
Chromosome Location	chr22:32803530-32803531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr22:32803362-32803691	Hela-S3	cervix:	n/a	n/a
2	EP300	chr22:32803358-32803735	GM12878	blood:	n/a	n/a
3	EP300	chr22:32803222-32803724	GM12878	blood:	n/a	n/a
4	IRF4	chr22:32803307-32803667	GM12878	blood:	n/a	n/a
5	SPI1	chr22:32803382-32803685	GM12878	blood:	n/a	n/a
6	IRF4	chr22:32803350-32803646	GM12878	blood:	n/a	n/a
7	SPI1	chr22:32803205-32803800	GM12891	blood:	n/a	n/a
8	NFIC	chr22:32803335-32803712	GM12878	blood:	n/a	n/a
9	EBF1	chr22:32803418-32803668	GM12878	blood:	n/a	n/a
10	SPI1	chr22:32803017-32804038	GM12878	blood:	n/a	n/a
11	SPI1	chr22:32803262-32803747	GM12891	blood:	n/a	n/a
12	ZNF143	chr22:32803373-32803542	GM12878	blood:	n/a	n/a
13	RUNX3	chr22:32803316-32803732	GM12878	blood:	n/a	n/a
14	SPI1	chr22:32803271-32803679	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32803479..32806391-chr22:32807402..32809274,3	MCF-7	breast:
2	chr22:32801191..32803610-chr22:32806296..32808272,2	K562	blood:
3	chr22:32793471..32796323-chr22:32803063..32805279,2	MCF-7	breast:
4	chr22:32802183..32805062-chr22:32805761..32809013,3	MCF-7	breast:

No data

Variant related genes	Relation type
RTCB	TF binding region
ENSG00000100220	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11089558	1.00[EUR][1000 genomes]
rs11912086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11912716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12159901	1.00[EUR][1000 genomes]
rs16990370	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2072816	0.85[YRI][hapmap]
rs28702904	1.00[EUR][1000 genomes]
rs58900751	1.00[EUR][1000 genomes]
rs59625475	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59857514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5994545	1.00[EUR][1000 genomes]
rs5994546	1.00[EUR][1000 genomes]
rs5994548	1.00[EUR][1000 genomes]
rs5998426	1.00[EUR][1000 genomes]
rs60043294	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61138259	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7286662	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7287940	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7289771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402917	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402918	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8140225	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621429	1.00[EUR][1000 genomes]
rs9621433	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1066118	chr22:32779078-32815334	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32780800-32806400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:32780800-32806400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32781200-32804000	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:32781200-32804200	Strong transcription	Stomach Smooth Muscle	stomach
5	chr22:32781200-32804600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr22:32781200-32804600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr22:32781200-32804800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr22:32781200-32805000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:32781200-32805400	Strong transcription	Fetal Muscle Leg	muscle
10	chr22:32781200-32806600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:32781400-32803600	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr22:32781400-32803800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:32781400-32803800	Strong transcription	Liver	Liver
14	chr22:32781400-32804400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr22:32781400-32804600	Strong transcription	Fetal Thymus	thymus
16	chr22:32781400-32804600	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr22:32781400-32804600	Strong transcription	Dnd41	blood
18	chr22:32781400-32804800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr22:32781400-32804800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr22:32781400-32804800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr22:32781400-32804800	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr22:32781400-32805000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:32781400-32805000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:32781400-32805000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:32781400-32805000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:32781400-32805000	Strong transcription	Fetal Intestine Large	intestine
27	chr22:32781400-32805000	Strong transcription	Fetal Lung	lung
28	chr22:32781400-32805000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr22:32781400-32805000	Strong transcription	Left Ventricle	heart
30	chr22:32781400-32805000	Strong transcription	Osteobl	bone
31	chr22:32781400-32805200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr22:32781400-32805200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:32781400-32805600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr22:32781400-32806400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:32781400-32806600	Strong transcription	Placenta	Placenta
36	chr22:32781600-32804800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr22:32781600-32804800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr22:32781600-32805000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:32781600-32805000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:32781600-32805400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr22:32781600-32806000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:32781800-32803600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr22:32781800-32805000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:32782000-32804800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr22:32782200-32805200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr22:32782400-32804800	Strong transcription	Brain Hippocampus Middle	brain
47	chr22:32782800-32807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr22:32783000-32805000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr22:32783200-32806600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr22:32783400-32805000	Strong transcription	Primary hematopoietic stem cells	blood

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