Variant report

Variant	rs184584451
Chromosome Location	chr22:33964136-33964137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr22:33963955-33964417	GM12878	blood:	n/a	n/a
2	RELA	chr22:33964013-33964544	GM19099	blood:	n/a	n/a
3	RCOR1	chr22:33963879-33964477	GM12878	blood:	n/a	n/a
4	YY1	chr22:33963974-33964549	GM12878	blood:	n/a	n/a
5	IRF4	chr22:33963938-33964535	GM12878	blood:	n/a	n/a
6	BHLHE40	chr22:33964098-33964496	GM12878	blood:	n/a	n/a
7	TBP	chr22:33963997-33964442	GM12878	blood:	n/a	n/a
8	PAX5	chr22:33963883-33964674	GM12878	blood:	n/a	n/a
9	FOXM1	chr22:33963961-33964814	GM12878	blood:	n/a	n/a
10	POLR2A	chr22:33964039-33964244	GM12878	blood:	n/a	n/a
11	ZNF384	chr22:33964086-33965213	GM12878	blood:	n/a	n/a
12	POLR2A	chr22:33963813-33964579	GM12878	blood:	n/a	n/a
13	STAT5A	chr22:33963966-33964560	GM12878	blood:	n/a	n/a
14	NFIC	chr22:33963942-33964956	GM12878	blood:	n/a	n/a
15	ZEB1	chr22:33963876-33964488	GM12878	blood:	n/a	n/a
16	ZNF143	chr22:33964078-33964443	GM12878	blood:	n/a	n/a
17	EBF1	chr22:33963997-33964516	GM12878	blood:	n/a	n/a
18	STAT1	chr22:33964134-33964366	GM12878	blood:	n/a	n/a
19	TCF12	chr22:33963978-33964412	GM12878	blood:	n/a	n/a
20	BCL11A	chr22:33963990-33964484	GM12878	blood:	n/a	n/a
21	PAX5	chr22:33964039-33964502	GM12878	blood:	n/a	n/a
22	SPI1	chr22:33964024-33964396	GM12891	blood:	n/a	n/a
23	PAX5	chr22:33964096-33964477	GM12891	blood:	n/a	n/a
24	EP300	chr22:33964056-33964436	GM12878	blood:	n/a	n/a
25	POU2F2	chr22:33963982-33964660	GM12891	blood:	n/a	n/a
26	MEF2A	chr22:33964028-33964559	GM12878	blood:	n/a	n/a
27	SP1	chr22:33963982-33964549	GM12878	blood:	n/a	n/a
28	MTA3	chr22:33964005-33964556	GM12878	blood:	n/a	n/a
29	WRNIP1	chr22:33964105-33964583	GM12878	blood:	n/a	n/a
30	CTCF	chr22:33964115-33964256	GM19239	blood:	n/a	n/a
31	BATF	chr22:33964017-33964493	GM12878	blood:	n/a	n/a
32	STAT5A	chr22:33963885-33964536	GM12878	blood:	n/a	n/a
33	MEF2C	chr22:33963934-33964501	GM12878	blood:	n/a	n/a
34	ATF2	chr22:33964016-33964559	GM12878	blood:	n/a	n/a
35	POU2F2	chr22:33963977-33964561	GM12878	blood:	n/a	n/a
36	EBF1	chr22:33963973-33964527	GM12878	blood:	n/a	n/a
37	ATF2	chr22:33963983-33964561	GM12878	blood:	n/a	n/a
38	BCLAF1	chr22:33963968-33964564	GM12878	blood:	n/a	n/a
39	BCL3	chr22:33963983-33964498	GM12878	blood:	n/a	n/a
40	ELF1	chr22:33963975-33964518	GM12878	blood:	n/a	n/a
41	POLR2A	chr22:33963967-33964556	GM12891	blood:	n/a	n/a
42	BCL11A	chr22:33964057-33964453	GM12878	blood:	n/a	n/a
43	RUNX3	chr22:33963880-33965234	GM12878	blood:	n/a	n/a
44	POLR2A	chr22:33963907-33964548	GM12891	blood:	n/a	n/a
45	BATF	chr22:33964003-33964555	GM12878	blood:	n/a	n/a
46	FOXM1	chr22:33963897-33964547	GM12878	blood:	n/a	n/a
47	TCF12	chr22:33963972-33964424	GM12878	blood:	n/a	n/a
48	IRF4	chr22:33963924-33964522	GM12878	blood:	n/a	n/a
49	YY1	chr22:33963993-33964452	GM12892	blood:	n/a	n/a
50	SP1	chr22:33963964-33964534	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
LARGE	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv914983	chr22:33800119-34035034	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1060283	chr22:33809137-34043739	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv544684	chr22:33809137-34043739	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1055791	chr22:33822226-34159536	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1065417	chr22:33823850-34053325	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv933309	chr22:33825232-34053000	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
12	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
13	nsv917167	chr22:33852676-34137036	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1062832	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv544686	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv914986	chr22:33863218-33967289	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv914987	chr22:33920421-34047427	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv1063312	chr22:33963672-33983973	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv588933	chr22:33963790-33978458	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33917400-33966800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:33937000-33965000	Weak transcription	Brain Anterior Caudate	brain
3	chr22:33937200-33965000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:33939800-33965200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr22:33940800-33970600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:33945800-33964800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr22:33946000-33974600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:33948400-33964800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:33949400-33965200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:33949600-33975400	Weak transcription	Ovary	ovary
11	chr22:33952400-33969400	Weak transcription	A549	lung
12	chr22:33953000-33964600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr22:33954800-33964200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr22:33955000-33965000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:33956000-33965000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr22:33956800-33964800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:33957600-33964200	Weak transcription	Lung	lung
18	chr22:33958200-33965000	Weak transcription	Stomach Mucosa	stomach
19	chr22:33958400-33967000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:33958800-33964800	Weak transcription	Fetal Stomach	stomach
21	chr22:33959000-33964800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr22:33959000-33965200	Weak transcription	Brain Hippocampus Middle	brain
23	chr22:33959200-33964200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:33959200-33965000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr22:33959200-33966800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:33959400-33964800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr22:33959400-33965000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:33959400-33974800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr22:33959800-33964200	Weak transcription	Adipose Nuclei	Adipose
30	chr22:33959800-33964800	Weak transcription	Brain Germinal Matrix	brain
31	chr22:33960000-33964800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:33960000-33965000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr22:33960000-33966000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr22:33960000-33993000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr22:33960400-33969200	Weak transcription	Fetal Intestine Large	intestine
36	chr22:33961000-33969200	Weak transcription	Fetal Intestine Small	intestine
37	chr22:33961200-33965400	Weak transcription	Liver	Liver
38	chr22:33962600-33967400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:33962800-33964400	Enhancers	Primary B cells from cord blood	blood
40	chr22:33963000-33965600	Weak transcription	Small Intestine	intestine
41	chr22:33963400-33966200	Enhancers	Fetal Kidney	kidney
42	chr22:33963600-33964600	Flanking Active TSS	GM12878-XiMat	blood
43	chr22:33963600-33966400	Enhancers	Right Ventricle	heart
44	chr22:33963800-33965200	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr22:33963800-33966200	Enhancers	Fetal Heart	heart
46	chr22:33963800-33966600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr22:33964000-33964200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:33964000-33964600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr22:33964000-33965200	Enhancers	Pancreas	Pancrea
50	chr22:33964000-33965600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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