Variant report

Variant	rs532574457
Chromosome Location	chr22:30706325-30706326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr22:30706041-30706716	GM12892	blood:	n/a	n/a
2	POLR2A	chr22:30705807-30706342	GM12892	blood:	n/a	n/a
3	BCL11A	chr22:30705929-30706512	GM12878	blood:	n/a	n/a
4	CTCF	chr22:30706200-30706350	GM12865	blood:	n/a	n/a
5	EP300	chr22:30705677-30706689	GM12878	blood:	n/a	chr22:30705964-30705977
6	SP1	chr22:30705890-30706445	GM12878	blood:	n/a	n/a
7	EBF1	chr22:30705835-30706738	GM12878	blood:	n/a	n/a
8	POLR2A	chr22:30706074-30706671	H1-neurons	neurons:	n/a	n/a
9	SPI1	chr22:30706136-30706705	GM12878	blood:	n/a	n/a
10	BCLAF1	chr22:30705881-30706658	GM12878	blood:	n/a	n/a
11	FOXM1	chr22:30705752-30706587	GM12878	blood:	n/a	n/a
12	SPI1	chr22:30706226-30707067	HL-60	blood:	n/a	chr22:30706858-30706871
13	CEBPB	chr22:30705739-30706921	GM12878	blood:	n/a	n/a
14	POLR2A	chr22:30705712-30706594	GM12878	blood:	n/a	n/a
15	POLR2A	chr22:30705704-30706426	GM12878	blood:	n/a	n/a
16	BCLAF1	chr22:30705717-30706657	GM12878	blood:	n/a	n/a
17	SP1	chr22:30705865-30706355	GM12878	blood:	n/a	n/a
18	MTA3	chr22:30705537-30706371	GM12878	blood:	n/a	n/a
19	WRNIP1	chr22:30705590-30706818	GM12878	blood:	n/a	n/a
20	MAZ	chr22:30705889-30706675	GM12878	blood:	n/a	n/a
21	SPI1	chr22:30706126-30706727	GM12891	blood:	n/a	n/a
22	CTCF	chr22:30706220-30706370	GM12873	blood:	n/a	n/a
23	ZNF143	chr22:30706144-30706400	GM12878	blood:	n/a	n/a
24	RUNX3	chr22:30705651-30706745	GM12878	blood:	n/a	n/a
25	CHD2	chr22:30705654-30706665	GM12878	blood:	n/a	n/a
26	EBF1	chr22:30705910-30706814	GM12878	blood:	n/a	n/a
27	RCOR1	chr22:30705810-30706708	GM12878	blood:	n/a	n/a
28	PAX5	chr22:30706163-30706468	GM12878	blood:	n/a	n/a
29	YY1	chr22:30706078-30706622	GM12878	blood:	n/a	n/a
30	POLR2A	chr22:30705591-30706489	GM12892	blood:	n/a	n/a
31	SPI1	chr22:30705879-30706748	GM12878	blood:	n/a	n/a
32	BATF	chr22:30706139-30706455	GM12878	blood:	n/a	n/a
33	ELK1	chr22:30706129-30706437	GM12878	blood:	n/a	n/a
34	POLR2A	chr22:30706137-30706628	H1-neurons	neurons:	n/a	n/a
35	TCF3	chr22:30705818-30706462	GM12878	blood:	n/a	n/a
36	NFIC	chr22:30705641-30706756	GM12878	blood:	n/a	n/a
37	PAX5	chr22:30705718-30706564	GM12878	blood:	n/a	chr22:30705795-30705804
38	SMC3	chr22:30705889-30706633	GM12878	blood:	n/a	n/a
39	IKZF1	chr22:30705803-30706670	GM12878	blood:	n/a	n/a
40	RELA	chr22:30705815-30706908	GM18951	blood:	n/a	n/a
41	USF2	chr22:30706024-30706415	GM12878	blood:	n/a	n/a
42	EBF1	chr22:30705813-30706876	GM12878	blood:	n/a	n/a
43	YY1	chr22:30706109-30706531	GM12891	blood:	n/a	n/a
44	SPI1	chr22:30706062-30706715	GM12891	blood:	n/a	n/a
45	POLR2A	chr22:30705664-30706433	GM12892	blood:	n/a	n/a
46	MXI1	chr22:30705598-30706512	GM12878	blood:	n/a	n/a
47	CEBPB	chr22:30706259-30706757	IMR90	lung:	n/a	n/a
48	RUNX3	chr22:30705506-30706724	GM12878	blood:	n/a	n/a
49	BCL11A	chr22:30706145-30706438	GM12878	blood:	n/a	n/a
50	NFYB	chr22:30705950-30706526	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30704378..30708150-chr22:30709982..30712337,3	MCF-7	breast:
2	chr22:30702121..30703718-chr22:30704175..30706917,2	K562	blood:
3	chr22:30697815..30699936-chr22:30705927..30707445,2	K562	blood:
4	chr22:30705519..30709851-chr22:30719624..30722955,4	MCF-7	breast:
5	chr22:30647129..30650015-chr22:30704235..30707328,3	MCF-7	breast:

No data

Variant related genes	Relation type
TBC1D10A	TF binding region
ENSG00000099992	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	nsv984527	chr22:30698358-30732712	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv3593	chr22:30705980-30751122	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 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	chr22:30686200-30720000	Weak transcription	Fetal Brain Male	brain
2	chr22:30686800-30707200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:30687400-30706800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr22:30691000-30706800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:30695400-30706800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:30697400-30712200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:30698800-30707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:30699600-30715600	Weak transcription	Fetal Brain Female	brain
9	chr22:30699800-30710000	Weak transcription	HepG2	liver
10	chr22:30699800-30711600	Enhancers	Stomach Mucosa	stomach
11	chr22:30700000-30710000	Enhancers	HMEC	breast
12	chr22:30700200-30712000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr22:30700200-30712600	Enhancers	Primary hematopoietic stem cells	blood
14	chr22:30700400-30710000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:30700400-30714400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr22:30700600-30711200	Enhancers	Placenta	Placenta
17	chr22:30701000-30706800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:30701400-30709200	Enhancers	Fetal Kidney	kidney
19	chr22:30702000-30706600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:30702000-30706600	Enhancers	Colonic Mucosa	Colon
21	chr22:30702000-30707400	Enhancers	NHEK	skin
22	chr22:30702200-30706400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr22:30702200-30706400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr22:30702200-30707000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:30702400-30706600	Enhancers	Adipose Nuclei	Adipose
26	chr22:30702400-30707200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:30702600-30706800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr22:30702600-30706800	Weak transcription	Fetal Intestine Large	intestine
29	chr22:30702800-30709200	Enhancers	Right Atrium	heart
30	chr22:30702800-30709400	Enhancers	Pancreas	Pancrea
31	chr22:30702800-30710200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:30702800-30712400	Enhancers	Left Ventricle	heart
33	chr22:30702800-30713000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr22:30702800-30713200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:30702800-30714800	Enhancers	Spleen	Spleen
36	chr22:30703000-30706800	Weak transcription	A549	lung
37	chr22:30703000-30709800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr22:30703200-30709400	Enhancers	Esophagus	oesophagus
39	chr22:30703200-30710400	Enhancers	Primary B cells from peripheral blood	blood
40	chr22:30703200-30711200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:30703400-30710000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr22:30703400-30710400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:30703600-30706600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr22:30703600-30710000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr22:30703600-30710400	Enhancers	Primary B cells from cord blood	blood
46	chr22:30703800-30707000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:30704000-30708600	Enhancers	Lung	lung
48	chr22:30704000-30708800	Enhancers	Right Ventricle	heart
49	chr22:30704200-30707000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:30704200-30707000	Enhancers	Rectal Mucosa Donor 31	rectum

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