Variant report

Variant	rs28704032
Chromosome Location	chr22:31003454-31003455
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	chr22:31002471-31003513	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr22:31003380-31003530	HFF-Myc	foreskin:	n/a	n/a
3	POLR2A	chr22:31002632-31003514	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr22:31001849-31003651	HUVEC	blood vessel:	n/a	n/a
5	TCF3	chr22:31003121-31003495	GM12878	blood:	n/a	chr22:31003304-31003317
6	REST	chr22:31002402-31003757	H1-neurons	neurons:	n/a	chr22:31003257-31003270
7	STAT3	chr22:31003158-31003598	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr22:31002198-31003605	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr22:31002699-31003480	GM19099	blood:	n/a	n/a
10	POLR2A	chr22:31002779-31003543	GM12878	blood:	n/a	n/a
11	RUNX3	chr22:31002968-31003540	GM12878	blood:	n/a	n/a
12	POLR2A	chr22:31002519-31003502	K562	blood:	n/a	n/a
13	MTA3	chr22:31002710-31003527	GM12878	blood:	n/a	n/a
14	CTCF	chr22:31003340-31003490	HPF	lung:	n/a	n/a
15	MXI1	chr22:31002462-31003927	SK-N-SH	brain:	n/a	n/a
16	MXI1	chr22:31002800-31003662	GM12878	blood:	n/a	n/a
17	MAX	chr22:31002552-31003469	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3A	chr22:31002454-31003631	H1-hESC	embryonic stem cell:	n/a	chr22:31003257-31003270
19	CHD2	chr22:31002711-31003533	GM12878	blood:	n/a	n/a
20	RUNX3	chr22:31002651-31003607	GM12878	blood:	n/a	n/a
21	EBF1	chr22:31002840-31003493	GM12878	blood:	n/a	n/a
22	EBF1	chr22:31003105-31003520	GM12878	blood:	n/a	n/a
23	POLR2A	chr22:31002616-31003459	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr22:31002575-31003729	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31001608..31004689-chr22:31008894..31012791,3	K562	blood:
2	chr22:30987737..30989936-chr22:31002004..31003702,2	MCF-7	breast:
3	chr22:30986017..30988291-chr22:31003430..31005717,3	K562	blood:

Variant related genes	Relation type
PES1	TF binding region
ENSG00000185339	Chromatin interaction
ENSG00000100029	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs5994330	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5997724	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5997729	0.81[EUR][1000 genomes]
rs9606757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9606758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9606763	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9609018	1.00[AFR][1000 genomes]
rs9609019	0.95[EUR][1000 genomes]
rs9609025	0.81[EUR][1000 genomes]
rs9609028	0.81[EUR][1000 genomes]
rs9609030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9609033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9609038	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr22:31001400-31003800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr22:31001400-31006400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr22:31001800-31003600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:31001800-31003600	Active TSS	Right Atrium	heart
5	chr22:31001800-31003800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr22:31001800-31004400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr22:31002000-31007000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:31002200-31003600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr22:31002200-31003600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:31002200-31003600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr22:31002200-31003600	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr22:31002200-31003800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr22:31002200-31003800	Active TSS	Right Ventricle	heart
14	chr22:31002200-31004400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr22:31002200-31004800	Weak transcription	Hela-S3	cervix
16	chr22:31002200-31005000	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr22:31002400-31003600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:31002400-31003600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr22:31002400-31003600	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr22:31002400-31003800	Active TSS	Brain Cingulate Gyrus	brain
21	chr22:31002400-31003800	Active TSS	Lung	lung
22	chr22:31002600-31003600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr22:31002800-31003600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:31002800-31003600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr22:31002800-31003600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr22:31002800-31003600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr22:31002800-31003600	Flanking Active TSS	Liver	Liver
28	chr22:31002800-31003600	Flanking Active TSS	Colonic Mucosa	Colon
29	chr22:31002800-31003600	Flanking Active TSS	HMEC	breast
30	chr22:31002800-31003600	Flanking Active TSS	NHLF	lung
31	chr22:31002800-31003800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:31002800-31003800	Flanking Active TSS	Fetal Brain Male	brain
33	chr22:31002800-31004200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:31002800-31004400	Flanking Active TSS	GM12878-XiMat	blood
35	chr22:31003000-31003600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr22:31003000-31003600	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr22:31003000-31003600	Weak transcription	Small Intestine	intestine
38	chr22:31003000-31003600	Flanking Active TSS	Thymus	Thymus
39	chr22:31003000-31003800	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr22:31003000-31005000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr22:31003000-31005600	Enhancers	Primary B cells from cord blood	blood
42	chr22:31003200-31003600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr22:31003200-31003600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr22:31003200-31003600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr22:31003200-31003600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:31003200-31003600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr22:31003200-31003600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr22:31003200-31003600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr22:31003200-31003600	Flanking Active TSS	Esophagus	oesophagus
50	chr22:31003200-31003600	Flanking Active TSS	Fetal Heart	heart

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