Variant report

Variant	rs145545926
Chromosome Location	chr4:48485167-48485168
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	POLR2A	chr4:48484883-48485759	H1-neurons	neurons:	n/a	n/a
2	GATA2	chr4:48485064-48485382	K562	blood:	n/a	chr4:48485196-48485206
3	ELF1	chr4:48485032-48485356	K562	blood:	n/a	n/a
4	UBTF	chr4:48485083-48487203	K562	blood:	n/a	n/a
5	ZBTB7A	chr4:48485145-48485812	K562	blood:	n/a	n/a
6	RCOR1	chr4:48484959-48486381	K562	blood:	n/a	n/a
7	EP300	chr4:48484919-48485385	SK-N-SH_RA	brain:	n/a	chr4:48485366-48485382
8	POLR2A	chr4:48485150-48485686	K562	blood:	n/a	n/a
9	POLR2A	chr4:48484898-48485632	H1-neurons	neurons:	n/a	n/a
10	E2F6	chr4:48485161-48486305	K562	blood:	n/a	chr4:48485426-48485435 chr4:48485395-48485405
11	TBP	chr4:48485021-48485503	K562	blood:	n/a	n/a
12	RAD21	chr4:48484955-48485336	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr4:48484979-48485526	K562	blood:	n/a	n/a
14	EP300	chr4:48484227-48486994	SK-N-SH	brain:	n/a	chr4:48485456-48485472 chr4:48485429-48485438 chr4:48485459-48485475 chr4:48484359-48484368 chr4:48485366-48485382
15	MAZ	chr4:48484876-48485582	K562	blood:	n/a	chr4:48485105-48485115
16	TAL1	chr4:48485044-48485352	K562	blood:	n/a	n/a
17	ZNF384	chr4:48485115-48485305	K562	blood:	n/a	chr4:48485194-48485202
18	ARID3A	chr4:48484962-48485247	K562	blood:	n/a	n/a
19	JUND	chr4:48485073-48485291	K562	blood:	n/a	n/a
20	TEAD4	chr4:48484947-48485390	K562	blood:	n/a	n/a
21	RCOR1	chr4:48485012-48485372	K562	blood:	n/a	n/a
22	MYC	chr4:48484985-48486385	K562	blood:	n/a	chr4:48485105-48485115
23	SIN3A	chr4:48485011-48485230	H1-hESC	embryonic stem cell:	n/a	n/a
24	CUX1	chr4:48485024-48485208	K562	blood:	n/a	n/a
25	TBL1XR1	chr4:48484900-48485284	K562	blood:	n/a	n/a
26	POLR2A	chr4:48485136-48485684	K562	blood:	n/a	n/a
27	YY1	chr4:48485126-48485647	K562	blood:	n/a	chr4:48485429-48485438 chr4:48485426-48485435
28	HMGN3	chr4:48485128-48486194	K562	blood:	n/a	n/a
29	MYC	chr4:48485049-48486411	K562	blood:	n/a	chr4:48485105-48485115
30	REST	chr4:48484967-48485297	SK-N-SH	brain:	n/a	n/a
31	EP300	chr4:48484980-48485356	SK-N-SH_RA	brain:	n/a	n/a
32	POLR2A	chr4:48485026-48486458	K562	blood:	n/a	n/a
33	REST	chr4:48484690-48486047	H1-neurons	neurons:	n/a	n/a
34	EGR1	chr4:48484907-48485299	K562	blood:	n/a	chr4:48485105-48485118 chr4:48485105-48485118 chr4:48485106-48485116 chr4:48485104-48485119
35	MAX	chr4:48485070-48486507	K562	blood:	n/a	chr4:48485105-48485115
36	ZMIZ1	chr4:48485157-48485233	K562	blood:	n/a	n/a
37	EP300	chr4:48485029-48485348	K562	blood:	n/a	n/a
38	ZBTB7A	chr4:48484926-48485337	ECC-1	luminal epithelium:	n/a	n/a
39	TAF1	chr4:48485073-48485543	K562	blood:	n/a	n/a
40	MYC	chr4:48485073-48485168	K562	blood:	n/a	chr4:48485105-48485115
41	GATA2	chr4:48484985-48485669	SH-SY5Y	brain:	n/a	chr4:48485196-48485206
42	TEAD4	chr4:48484987-48485308	K562	blood:	n/a	n/a
43	CCNT2	chr4:48485129-48486088	K562	blood:	n/a	n/a
44	TBL1XR1	chr4:48485096-48485274	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48484114..48487251-chr4:48504187..48509460,5	K562	blood:
2	chr4:48341909..48343469-chr4:48483589..48486077,2	K562	blood:

Variant related genes	Relation type
SLC10A4	TF binding region
ENSG00000109171	Chromatin interaction
ENSG00000075539	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	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv879008	chr4:48473439-48496804	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv879009	chr4:48476539-48494546	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3421012	chr4:48483395-48487593	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48484600-48485200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
2	chr4:48484600-48485200	Flanking Active TSS	K562	blood
3	chr4:48484600-48486600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr4:48484600-48486600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr4:48484800-48485200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
6	chr4:48484800-48485200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
7	chr4:48484800-48485200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr4:48484800-48485200	Bivalent Enhancer	Fetal Brain Male	brain
9	chr4:48484800-48485200	Bivalent Enhancer	Fetal Heart	heart
10	chr4:48484800-48485800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:48484800-48485800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:48484800-48486000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:48484800-48486000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:48484800-48486200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
15	chr4:48484800-48486600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr4:48484800-48487200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
17	chr4:48484800-48487200	Active TSS	A549	lung
18	chr4:48485000-48485200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
20	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
21	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
22	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
23	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
24	chr4:48485000-48485200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
26	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
27	chr4:48485000-48485200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:48485000-48485200	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
29	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
32	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
34	chr4:48485000-48485200	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
36	chr4:48485000-48485200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
37	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr4:48485000-48485200	Bivalent Enhancer	Placenta	Placenta
39	chr4:48485000-48485200	Bivalent Enhancer	Fetal Thymus	thymus
40	chr4:48485000-48485200	Flanking Bivalent TSS/Enh	Ovary	ovary
41	chr4:48485000-48485200	Enhancers	Pancreas	Pancrea
42	chr4:48485000-48485200	Flanking Active TSS	Right Ventricle	heart
43	chr4:48485000-48485400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:48485000-48485400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:48485000-48485400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:48485000-48485400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
47	chr4:48485000-48485400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:48485000-48485400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:48485000-48485400	Bivalent/Poised TSS	Thymus	Thymus
50	chr4:48485000-48485400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood

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