Variant report

Variant	rs148490924
Chromosome Location	chr22:30662529-30662530
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	SPI1	chr22:30661739-30662936	HL-60	blood:	n/a	chr22:30662917-30662930
2	POLR2A	chr22:30661584-30662928	GM12878	blood:	n/a	n/a
3	REST	chr22:30661715-30663581	HL-60	blood:	n/a	chr22:30662105-30662118
4	STAT5A	chr22:30661515-30662876	GM12878	blood:	n/a	chr22:30662419-30662431 chr22:30662617-30662629
5	ELF1	chr22:30661607-30663614	GM12878	blood:	n/a	chr22:30663323-30663335
6	FOXM1	chr22:30661970-30662719	GM12878	blood:	n/a	n/a
7	POLR2A	chr22:30661670-30663459	GM19099	blood:	n/a	n/a
8	MTA3	chr22:30661515-30662903	GM12878	blood:	n/a	n/a
9	POLR2A	chr22:30661612-30663993	GM12891	blood:	n/a	n/a
10	CHD1	chr22:30662464-30662679	GM12878	blood:	n/a	n/a
11	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
12	POLR2A	chr22:30661672-30663518	GM18526	blood:	n/a	n/a
13	POLR2A	chr22:30661609-30663447	GM12878	blood:	n/a	n/a
14	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
15	SIN3A	chr22:30662004-30662589	GM12878	blood:	n/a	n/a
16	POLR2A	chr22:30661746-30662571	GM12891	blood:	n/a	n/a
17	POLR2A	chr22:30661614-30662670	GM12891	blood:	n/a	n/a
18	POLR2A	chr22:30661656-30662589	GM12892	blood:	n/a	n/a
19	POLR2A	chr22:30661614-30662880	GM12878	blood:	n/a	n/a
20	EBF1	chr22:30661759-30663537	GM12878	blood:	n/a	chr22:30661836-30661847
21	POLR2A	chr22:30661691-30663478	GM12892	blood:	n/a	n/a
22	POLR2A	chr22:30661627-30663538	GM15510	blood:	n/a	n/a
23	CEBPB	chr22:30661743-30662709	GM12878	blood:	n/a	chr22:30661944-30661955
24	POLR2A	chr22:30661682-30663944	HL-60	blood:	n/a	n/a
25	PML	chr22:30661594-30662752	GM12878	blood:	n/a	n/a
26	RUNX3	chr22:30661566-30662594	GM12878	blood:	n/a	n/a
27	RCOR1	chr22:30662377-30662684	K562	blood:	n/a	n/a
28	POLR2A	chr22:30661586-30662546	GM12878	blood:	n/a	n/a
29	POLR2A	chr22:30661178-30663469	NB4	blood:	n/a	n/a
30	POLR2A	chr22:30661673-30663449	GM19193	blood:	n/a	n/a
31	MTA3	chr22:30661958-30662720	GM12878	blood:	n/a	n/a
32	RUNX3	chr22:30661711-30663674	GM12878	blood:	n/a	chr22:30662948-30662965
33	POLR2A	chr22:30661250-30664078	HL-60	blood:	n/a	n/a
34	RCOR1	chr22:30662500-30662545	K562	blood:	n/a	n/a
35	ZNF143	chr22:30662371-30662661	K562	blood:	n/a	n/a
36	JUND	chr22:30661321-30662677	GM12878	blood:	n/a	chr22:30662269-30662278
37	MYC	chr22:30661690-30664042	NB4	blood:	n/a	chr22:30661922-30661933 chr22:30661924-30661933 chr22:30662919-30662929 chr22:30661923-30661932 chr22:30661922-30661932 chr22:30662132-30662147 chr22:30663741-30663751 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
38	POLR2A	chr22:30661775-30662568	GM12878	blood:	n/a	n/a
39	POLR2A	chr22:30661622-30662691	GM12891	blood:	n/a	n/a
40	ZNF143	chr22:30662263-30662708	GM12878	blood:	n/a	n/a
41	CREB1	chr22:30661616-30662666	GM12878	blood:	n/a	chr22:30662267-30662280
42	POLR2A	chr22:30656870-30664747	PBDE	blood:	n/a	n/a
43	MAX	chr22:30661738-30662655	K562	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
44	PAX5	chr22:30661800-30662544	GM12878	blood:	n/a	chr22:30662250-30662260
45	POLR2A	chr22:30661604-30663425	GM18505	blood:	n/a	n/a
46	POLR2A	chr22:30661602-30663491	GM12892	blood:	n/a	n/a
47	POLR2A	chr22:30661516-30663509	Raji	blood:	n/a	n/a
48	POLR2A	chr22:30661654-30663553	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30660837..30662614-chr22:30683520..30685637,2	MCF-7	breast:

Variant related genes	Relation type
OSM	TF binding region
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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30658200-30665200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr22:30659400-30662600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr22:30659400-30663200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr22:30659600-30663000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:30659600-30673000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:30661000-30664600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:30661200-30662600	Enhancers	A549	lung
8	chr22:30661200-30663400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr22:30661200-30664000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr22:30661200-30664200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr22:30661200-30664400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr22:30661400-30662800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr22:30661400-30663800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr22:30661400-30663800	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr22:30661400-30664000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr22:30661400-30664400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:30661600-30662800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr22:30661600-30663600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr22:30661600-30663600	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr22:30661600-30663600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr22:30661600-30663600	Active TSS	Rectal Smooth Muscle	rectum
22	chr22:30661600-30663800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr22:30661600-30664200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr22:30661600-30664200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr22:30661800-30662600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:30661800-30662800	Active TSS	Gastric	stomach
27	chr22:30661800-30663000	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr22:30661800-30663200	Active TSS	Esophagus	oesophagus
29	chr22:30661800-30663200	Active TSS	Stomach Smooth Muscle	stomach
30	chr22:30661800-30663400	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr22:30661800-30663400	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr22:30661800-30663600	Active TSS	Colonic Mucosa	Colon
33	chr22:30661800-30663800	Flanking Active TSS	Thymus	Thymus
34	chr22:30661800-30664000	Flanking Active TSS	Fetal Thymus	thymus
35	chr22:30661800-30664200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr22:30661800-30664200	Flanking Active TSS	GM12878-XiMat	blood
37	chr22:30662000-30662600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:30662000-30662600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:30662000-30662600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:30662000-30662600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:30662000-30662800	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr22:30662000-30662800	Active TSS	Brain Anterior Caudate	brain
43	chr22:30662000-30662800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr22:30662000-30662800	Flanking Active TSS	Placenta	Placenta
45	chr22:30662000-30662800	Active TSS	Left Ventricle	heart
46	chr22:30662000-30662800	Active TSS	Right Atrium	heart
47	chr22:30662000-30662800	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr22:30662000-30662800	Active TSS	Small Intestine	intestine
49	chr22:30662000-30663200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr22:30662000-30663200	Active TSS	Liver	Liver

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