Variant report

Variant	rs544990261
Chromosome Location	chr3:20080646-20080647
allele	C/T
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	IRF1	chr3:20080209-20081645	K562	blood:	n/a	chr3:20081139-20081153 chr3:20081139-20081149
2	RCOR1	chr3:20080062-20080912	K562	blood:	n/a	n/a
3	ARID3A	chr3:20080060-20080685	K562	blood:	n/a	n/a
4	MYC	chr3:20080133-20083357	K562	blood:	n/a	chr3:20080865-20080872 chr3:20081324-20081334 chr3:20081371-20081381 chr3:20083104-20083114
5	MAZ	chr3:20080126-20083442	K562	blood:	n/a	chr3:20080865-20080872 chr3:20081324-20081334 chr3:20081371-20081381 chr3:20083104-20083114
6	TEAD4	chr3:20080038-20080727	K562	blood:	n/a	n/a
7	MXI1	chr3:20080006-20083810	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr3:20080494-20083438	GM12878	blood:	n/a	n/a
9	CUX1	chr3:20080064-20080943	K562	blood:	n/a	n/a
10	UBTF	chr3:20080217-20083312	K562	blood:	n/a	n/a
11	MYC	chr3:20080199-20081783	NB4	blood:	n/a	chr3:20080865-20080872 chr3:20081324-20081334 chr3:20081371-20081381
12	MXI1	chr3:20080332-20083378	GM12878	blood:	n/a	n/a
13	EP300	chr3:20080123-20081647	K562	blood:	n/a	chr3:20080782-20080796
14	GATA1	chr3:20080054-20081717	PBDE	blood:	n/a	chr3:20080566-20080573 chr3:20080312-20080328 chr3:20080314-20080326
15	TBP	chr3:20080199-20081814	K562	blood:	n/a	n/a
16	POLR2A	chr3:20080020-20081793	PBDE	blood:	n/a	n/a
17	TBL1XR1	chr3:20080114-20081653	K562	blood:	n/a	n/a
18	MAFF	chr3:20080147-20080885	K562	blood:	n/a	n/a
19	RAD21	chr3:20079083-20081084	SK-N-SH	brain:	n/a	n/a
20	TBP	chr3:20080628-20081602	GM12878	blood:	n/a	n/a
21	MYC	chr3:20080063-20083450	K562	blood:	n/a	chr3:20080865-20080872 chr3:20081324-20081334 chr3:20081371-20081381 chr3:20083104-20083114
22	MAFK	chr3:20080133-20080743	K562	blood:	n/a	n/a
23	BHLHE40	chr3:20080055-20080701	K562	blood:	n/a	n/a
24	JUND	chr3:20080124-20081796	K562	blood:	n/a	chr3:20081360-20081369

No.	Distal block	Cell Line	Cell type
1	chr3:20079279..20082964-chr3:20226299..20229620,6	K562	blood:
2	chr3:20079527..20082964-chr3:20226742..20229620,4	K562	blood:
3	chr3:20079693..20081472-chr3:20203928..20206383,2	K562	blood:
4	chr3:19986985..19992254-chr3:20079680..20083856,14	K562	blood:
5	chr3:19988765..19989271-chr3:20079780..20080698,2	NB4	blood:
6	chr3:19986921..19992254-chr3:20078952..20084327,16	K562	blood:

Variant related genes	Relation type
KAT2B	TF binding region
ENSG00000129810	Chromatin interaction
ENSG00000144566	Chromatin interaction
ENSG00000163576	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv1825988	chr3:19976375-20102773	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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
7	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv997486	chr3:20006702-20113989	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv834627	chr3:20068115-20227975	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	esv3396791	chr3:20080148-20083246	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	esv3426803	chr3:20080473-20083321	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20079400-20081000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:20079600-20080800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:20080000-20080800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:20080000-20080800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr3:20080000-20080800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:20080000-20080800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:20080000-20080800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr3:20080000-20081000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr3:20080000-20081000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:20080000-20081000	Flanking Active TSS	HUVEC	blood vessel
11	chr3:20080000-20081000	Flanking Active TSS	K562	blood
12	chr3:20080000-20081200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr3:20080000-20083200	Active TSS	Aorta	Aorta
14	chr3:20080200-20080800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:20080200-20080800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr3:20080200-20080800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:20080200-20080800	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr3:20080200-20080800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr3:20080200-20080800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr3:20080200-20080800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr3:20080200-20080800	Flanking Active TSS	Liver	Liver
22	chr3:20080200-20080800	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr3:20080200-20080800	Flanking Active TSS	Fetal Stomach	stomach
24	chr3:20080200-20081000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr3:20080200-20081000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr3:20080200-20081000	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr3:20080200-20081000	Flanking Active TSS	Fetal Lung	lung
28	chr3:20080200-20081000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr3:20080200-20081000	Flanking Bivalent TSS/Enh	Dnd41	blood
30	chr3:20080200-20081200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr3:20080200-20081400	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr3:20080200-20083200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:20080200-20083200	Active TSS	Left Ventricle	heart
34	chr3:20080200-20083200	Active TSS	Ovary	ovary
35	chr3:20080200-20083200	Active TSS	NHLF	lung
36	chr3:20080200-20083400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr3:20080200-20083400	Active TSS	Colon Smooth Muscle	Colon
38	chr3:20080400-20080800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr3:20080400-20080800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
40	chr3:20080400-20080800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr3:20080400-20080800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:20080400-20080800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:20080400-20080800	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr3:20080400-20080800	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr3:20080400-20080800	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr3:20080400-20080800	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr3:20080400-20080800	Enhancers	A549	lung
48	chr3:20080400-20081000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:20080400-20081000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr3:20080400-20081000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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