Variant report

Variant	rs545793609
Chromosome Location	chr22:30661919-30661920
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	CEBPB	chr22:30661764-30662140	HepG2	liver:	n/a	chr22:30661944-30661955
2	SPI1	chr22:30661739-30662936	HL-60	blood:	n/a	chr22:30662917-30662930
3	POLR2A	chr22:30661584-30662928	GM12878	blood:	n/a	n/a
4	REST	chr22:30661715-30663581	HL-60	blood:	n/a	chr22:30662105-30662118
5	MAX	chr22:30661761-30661920	K562	blood:	n/a	n/a
6	NFYB	chr22:30661736-30662462	GM12878	blood:	n/a	n/a
7	POLR2A	chr22:30661821-30662005	GM12878	blood:	n/a	n/a
8	BHLHE40	chr22:30661875-30662439	GM12878	blood:	n/a	n/a
9	STAT5A	chr22:30661515-30662876	GM12878	blood:	n/a	chr22:30662419-30662431 chr22:30662617-30662629
10	ATF2	chr22:30661824-30662480	GM12878	blood:	n/a	n/a
11	CEBPB	chr22:30661834-30661986	HepG2	liver:	n/a	chr22:30661944-30661955
12	ELF1	chr22:30661607-30663614	GM12878	blood:	n/a	chr22:30663323-30663335
13	POLR2A	chr22:30661670-30663459	GM19099	blood:	n/a	n/a
14	MTA3	chr22:30661515-30662903	GM12878	blood:	n/a	n/a
15	CHD2	chr22:30661703-30662018	GM12878	blood:	n/a	n/a
16	USF1	chr22:30661783-30662013	HepG2	liver:	n/a	chr22:30661922-30661933
17	POLR2A	chr22:30661620-30662500	GM12878	blood:	n/a	n/a
18	PML	chr22:30661862-30662076	GM12878	blood:	n/a	n/a
19	POLR2A	chr22:30661612-30663993	GM12891	blood:	n/a	n/a
20	MAX	chr22:30661724-30662444	GM12878	blood:	n/a	chr22:30661922-30661933 chr22:30661924-30661933 chr22:30661923-30661932 chr22:30661922-30661932 chr22:30662132-30662147 chr22:30661922-30661933 chr22:30661921-30661934 chr22:30661923-30661933 chr22:30661921-30661934 chr22:30661923-30661932 chr22:30661922-30661933 chr22:30661923-30661933 chr22:30661922-30661933 chr22:30662135-30662142 chr22:30661923-30661932 chr22:30661921-30661934 chr22:30661922-30661932 chr22:30662134-30662143
21	MAX	chr22:30661834-30662005	HepG2	liver:	n/a	chr22:30661922-30661933 chr22:30661924-30661933 chr22:30661923-30661932 chr22:30661922-30661932 chr22:30661922-30661933 chr22:30661921-30661934 chr22:30661923-30661933 chr22:30661921-30661934 chr22:30661923-30661932 chr22:30661922-30661933 chr22:30661923-30661933 chr22:30661922-30661933 chr22:30661923-30661932 chr22:30661921-30661934 chr22:30661922-30661932
22	MAX	chr22:30661644-30663505	NB4	blood:	n/a	chr22:30661922-30661933 chr22:30661924-30661933 chr22:30662919-30662929 chr22:30661923-30661932 chr22:30661922-30661932 chr22:30662132-30662147 chr22:30661922-30661933 chr22:30661921-30661934 chr22:30661923-30661933 chr22:30663063-30663072 chr22:30661921-30661934 chr22:30661923-30661932 chr22:30661922-30661933 chr22:30661923-30661933 chr22:30661922-30661933 chr22:30662135-30662142 chr22:30661923-30661932 chr22:30661921-30661934 chr22:30661922-30661932 chr22:30662134-30662143
23	POLR2A	chr22:30661672-30663518	GM18526	blood:	n/a	n/a
24	POLR2A	chr22:30661609-30663447	GM12878	blood:	n/a	n/a
25	MAZ	chr22:30661730-30662628	GM12878	blood:	n/a	chr22:30661922-30661933 chr22:30661924-30661933 chr22:30661923-30661932 chr22:30661922-30661932 chr22:30662132-30662147 chr22:30661922-30661933 chr22:30661921-30661934 chr22:30661923-30661933 chr22:30661921-30661934 chr22:30661923-30661932 chr22:30661922-30661933 chr22:30661923-30661933 chr22:30661922-30661933 chr22:30662135-30662142 chr22:30661923-30661932 chr22:30661921-30661934 chr22:30661922-30661932 chr22:30662134-30662143
26	POU2F2	chr22:30661681-30662476	GM12891	blood:	n/a	chr22:30662443-30662455
27	STAT3	chr22:30661886-30662004	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr22:30661746-30662571	GM12891	blood:	n/a	n/a
29	STAT1	chr22:30661742-30661983	GM12878	blood:	n/a	n/a
30	POLR2A	chr22:30661668-30662450	GM12892	blood:	n/a	n/a
31	NRF1	chr22:30661808-30662019	GM12878	blood:	n/a	n/a
32	POLR2A	chr22:30661614-30662670	GM12891	blood:	n/a	n/a
33	POLR2A	chr22:30661656-30662589	GM12892	blood:	n/a	n/a
34	YY1	chr22:30661741-30662487	GM12892	blood:	n/a	n/a
35	POLR2A	chr22:30661614-30662880	GM12878	blood:	n/a	n/a
36	EBF1	chr22:30661759-30663537	GM12878	blood:	n/a	chr22:30661836-30661847
37	TAF1	chr22:30661818-30662485	GM12891	blood:	n/a	n/a
38	POLR2A	chr22:30661691-30663478	GM12892	blood:	n/a	n/a
39	USF1	chr22:30661785-30662019	H1-hESC	embryonic stem cell:	n/a	chr22:30661922-30661933
40	EBF1	chr22:30661790-30661922	GM12878	blood:	n/a	chr22:30661836-30661847
41	POLR2A	chr22:30661627-30663538	GM15510	blood:	n/a	n/a
42	POLR2A	chr22:30661738-30662520	GM12892	blood:	n/a	n/a
43	CEBPB	chr22:30661743-30662709	GM12878	blood:	n/a	chr22:30661944-30661955
44	CEBPB	chr22:30661774-30662053	K562	blood:	n/a	chr22:30661944-30661955
45	POLR2A	chr22:30661682-30663944	HL-60	blood:	n/a	n/a
46	ELF1	chr22:30661720-30662212	GM12878	blood:	n/a	n/a
47	TAF1	chr22:30661699-30662512	GM12878	blood:	n/a	n/a
48	STAT3	chr22:30661819-30661988	MCF10A-Er-Src	breast:	n/a	n/a
49	CEBPB	chr22:30661769-30662138	IMR90	lung:	n/a	chr22:30661944-30661955
50	PML	chr22:30661594-30662752	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30658407..30662211-chr22:30782039..30784785,6	MCF-7	breast:
2	chr22:30660277..30662001-chr22:30780639..30782477,2	MCF-7	breast:
3	chr22:30660837..30662614-chr22:30683520..30685637,2	MCF-7	breast:
4	chr22:30659097..30662032-chr22:30782521..30784593,3	MCF-7	breast:

Variant related genes	Relation type
OSM	TF binding region
ENSG00000099999	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	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
3	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	esv1799458	chr22:30659798-30698035	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv588885	chr22:30661184-30691631	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30656200-30662000	Enhancers	Primary hematopoietic stem cells	blood
2	chr22:30658200-30665200	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr22:30659400-30662000	Weak transcription	Liver	Liver
4	chr22:30659400-30662000	Weak transcription	Brain Anterior Caudate	brain
5	chr22:30659400-30662000	Weak transcription	Brain Hippocampus Middle	brain
6	chr22:30659400-30662000	Weak transcription	Fetal Intestine Large	intestine
7	chr22:30659400-30662200	Weak transcription	Brain Substantia Nigra	brain
8	chr22:30659400-30662600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:30659400-30663200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr22:30659600-30662000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:30659600-30662000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr22:30659600-30662200	Weak transcription	Pancreas	Pancrea
13	chr22:30659600-30663000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr22:30659600-30673000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr22:30659800-30662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr22:30659800-30662400	Weak transcription	Fetal Intestine Small	intestine
17	chr22:30660000-30662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:30660800-30662000	Enhancers	Spleen	Spleen
19	chr22:30661000-30664600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr22:30661200-30662000	Enhancers	Duodenum Mucosa	Duodenum
21	chr22:30661200-30662000	Enhancers	Placenta	Placenta
22	chr22:30661200-30662400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr22:30661200-30662600	Enhancers	A549	lung
24	chr22:30661200-30663400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr22:30661200-30664000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr22:30661200-30664200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr22:30661200-30664400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr22:30661400-30662000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr22:30661400-30662000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr22:30661400-30662000	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr22:30661400-30662000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr22:30661400-30662200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr22:30661400-30662400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr22:30661400-30662800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr22:30661400-30663800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr22:30661400-30663800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr22:30661400-30664000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr22:30661400-30664400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:30661600-30662000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr22:30661600-30662200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr22:30661600-30662800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr22:30661600-30663600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr22:30661600-30663600	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr22:30661600-30663600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr22:30661600-30663600	Active TSS	Rectal Smooth Muscle	rectum
46	chr22:30661600-30663800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr22:30661600-30664200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr22:30661600-30664200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr22:30661800-30662000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr22:30661800-30662200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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