Variant report

Variant	rs35118024
Chromosome Location	chr4:48485250-48485251
allele	-/GA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

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	POLR2A	chr4:48485208-48485665	ECC-1	luminal epithelium:	n/a	n/a
11	E2F6	chr4:48485161-48486305	K562	blood:	n/a	chr4:48485426-48485435 chr4:48485395-48485405
12	MAX	chr4:48485228-48485852	ECC-1	luminal epithelium:	n/a	n/a
13	TBP	chr4:48485021-48485503	K562	blood:	n/a	n/a
14	RAD21	chr4:48484955-48485336	SK-N-SH_RA	brain:	n/a	n/a
15	MAX	chr4:48485171-48486272	K562	blood:	n/a	n/a
16	E2F6	chr4:48485224-48485643	K562	blood:	n/a	chr4:48485426-48485435 chr4:48485395-48485405
17	POLR2A	chr4:48484979-48485526	K562	blood:	n/a	n/a
18	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
19	MAZ	chr4:48484876-48485582	K562	blood:	n/a	chr4:48485105-48485115
20	TAL1	chr4:48485044-48485352	K562	blood:	n/a	n/a
21	YY1	chr4:48485202-48486156	K562	blood:	n/a	chr4:48485429-48485438 chr4:48485426-48485435
22	ZNF384	chr4:48485115-48485305	K562	blood:	n/a	chr4:48485194-48485202
23	JUND	chr4:48485073-48485291	K562	blood:	n/a	n/a
24	TEAD4	chr4:48484947-48485390	K562	blood:	n/a	n/a
25	RCOR1	chr4:48485012-48485372	K562	blood:	n/a	n/a
26	MYC	chr4:48484985-48486385	K562	blood:	n/a	chr4:48485105-48485115
27	TBL1XR1	chr4:48484900-48485284	K562	blood:	n/a	n/a
28	MAX	chr4:48485201-48486284	A549	lung:	n/a	n/a
29	POLR2A	chr4:48485235-48485422	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr4:48485136-48485684	K562	blood:	n/a	n/a
31	YY1	chr4:48485126-48485647	K562	blood:	n/a	chr4:48485429-48485438 chr4:48485426-48485435
32	HMGN3	chr4:48485128-48486194	K562	blood:	n/a	n/a
33	MYC	chr4:48485049-48486411	K562	blood:	n/a	chr4:48485105-48485115
34	REST	chr4:48484967-48485297	SK-N-SH	brain:	n/a	n/a
35	EP300	chr4:48484980-48485356	SK-N-SH_RA	brain:	n/a	n/a
36	POLR2A	chr4:48485026-48486458	K562	blood:	n/a	n/a
37	MYC	chr4:48485238-48485269	K562	blood:	n/a	n/a
38	REST	chr4:48484690-48486047	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr4:48485191-48485702	A549	lung:	n/a	n/a
40	EGR1	chr4:48484907-48485299	K562	blood:	n/a	chr4:48485105-48485118 chr4:48485105-48485118 chr4:48485106-48485116 chr4:48485104-48485119
41	MAX	chr4:48485070-48486507	K562	blood:	n/a	chr4:48485105-48485115
42	EP300	chr4:48485029-48485348	K562	blood:	n/a	n/a
43	ZBTB7A	chr4:48484926-48485337	ECC-1	luminal epithelium:	n/a	n/a
44	HEY1	chr4:48485225-48485631	K562	blood:	n/a	chr4:48485363-48485378
45	TAF1	chr4:48485073-48485543	K562	blood:	n/a	n/a
46	GATA2	chr4:48484985-48485669	SH-SY5Y	brain:	n/a	chr4:48485196-48485206
47	POLR2A	chr4:48485231-48485630	A549	lung:	n/a	n/a
48	TEAD4	chr4:48484987-48485308	K562	blood:	n/a	n/a
49	CCNT2	chr4:48485129-48486088	K562	blood:	n/a	n/a
50	UBTF	chr4:48485216-48486470	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:48485233-48485283	AG04449	skin:	fetal
2	chr4:48485233-48485283	HepG2	liver:	n/a
3	chr4:48485233-48485283	HIPEpiC	eye:	n/a
4	chr4:48485233-48485283	HRPEpiC	eye:	n/a
5	chr4:48485233-48485283	PANC-1	pancreas:	n/a
6	chr4:48485233-48485283	NB4	blood:	n/a
7	chr4:48485233-48485283	AG09309	skin:	n/a
8	chr4:48485233-48485283	HCPEpiC	choroid plexus:	n/a
9	chr4:48485233-48485283	HEEpiC	esophagus:	n/a
10	chr4:48485233-48485283	SK-N-SH_RA	brain:	n/a
11	chr4:48485233-48485283	T-47D	breast:	n/a
12	chr4:48485233-48485283	SKMC	muscle:	n/a
13	chr4:48485233-48485283	ECC-1	luminal epithelium:	n/a
14	chr4:48485233-48485283	AoSMC	blood vessel:	n/a
15	chr4:48485233-48485283	BE2_C	brain:	n/a
16	chr4:48485233-48485283	NHDF-neo	bronchial:	n/a
17	chr4:48485233-48485283	HCF	heart:	n/a
18	chr4:48485233-48485283	ovcar-3	ovarian:	n/a
19	chr4:48485233-48485283	SK-N-MC	brain:	n/a
20	chr4:48485233-48485283	A549	lung:	n/a
21	chr4:48485233-48485283	MCF-7	breast:	n/a
22	chr4:48485233-48485283	HL-60	blood:	n/a
23	chr4:48485233-48485283	HEK293	kidney:	embryo
24	chr4:48485233-48485283	BJ	skin:	n/a
25	chr4:48485233-48485283	HAEpiC	amniotic membrane:	n/a
26	chr4:48485233-48485283	LNCaP	prostate:	n/a
27	chr4:48485233-48485283	GM06990	blood:	n/a
28	chr4:48485233-48485283	GM19239	blood:	n/a
29	chr4:48485233-48485283	H1-hESC	embryonic stem cell:	embryo
30	chr4:48485233-48485283	GM12891	blood:	n/a
31	chr4:48485233-48485283	AG09319	gingival:	n/a
32	chr4:48485233-48485283	RPTEC	kidney:	n/a
33	chr4:48485233-48485283	NHBE	bronchial:	n/a
34	chr4:48485233-48485283	AG10803	skin:	n/a
35	chr4:48485233-48485283	MCF10A-Er-Src	breast:	n/a
36	chr4:48485233-48485283	Hela-S3	cervix:	n/a
37	chr4:48485233-48485283	U87	brain:	n/a
38	chr4:48485233-48485283	SAEC	small airway:	n/a
39	chr4:48485233-48485283	HCM	heart:	n/a
40	chr4:48485233-48485283	HCT-116	colon:	n/a
41	chr4:48485233-48485283	AG04450	lung:	fetal
42	chr4:48485233-48485283	HNPCEpiC	eye:	n/a
43	chr4:48485233-48485283	Caco-2	colon:	n/a
44	chr4:48485233-48485283	IMR90	lung:	fetal
45	chr4:48485233-48485283	CMK	blood:	n/a
46	chr4:48485233-48485283	PFSK-1	brain:	n/a
47	chr4:48485233-48485283	GM12878	blood:	n/a
48	chr4:48485233-48485283	HUVEC	blood vessel:	n/a
49	chr4:48485233-48485283	SK-N-SH	brain:	n/a
50	chr4:48485233-48485283	Jurkat	blood:	n/a

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

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:

No data

Variant related genes	Relation type
SLC10A4	TF binding region
SLC10A4	CpG island
ENSG00000075539	Chromatin interaction
ENSG00000109171	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
7	esv1720627	chr4:48485249-48485251	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv2578601	chr4:48485250-48485251	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv244613	chr4:48485250-48485251	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv2356904	chr4:48485250-48485252	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48484600-48486600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr4:48484600-48486600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr4:48484800-48485800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:48484800-48485800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:48484800-48486000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:48484800-48486000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:48484800-48486200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
8	chr4:48484800-48486600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr4:48484800-48487200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
10	chr4:48484800-48487200	Active TSS	A549	lung
11	chr4:48485000-48485400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:48485000-48485400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:48485000-48485400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:48485000-48485400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr4:48485000-48485400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:48485000-48485400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:48485000-48485400	Bivalent/Poised TSS	Thymus	Thymus
18	chr4:48485000-48485400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
19	chr4:48485000-48485600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:48485000-48485600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:48485000-48485600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
22	chr4:48485000-48485600	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr4:48485000-48485600	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
24	chr4:48485000-48485600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:48485000-48485600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
26	chr4:48485000-48485600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:48485000-48485600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
28	chr4:48485000-48485600	Active TSS	Right Atrium	heart
29	chr4:48485000-48485600	Bivalent/Poised TSS	NHEK	skin
30	chr4:48485000-48485800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
31	chr4:48485000-48485800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
32	chr4:48485000-48485800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
33	chr4:48485000-48485800	Bivalent/Poised TSS	HepG2	liver
34	chr4:48485000-48485800	Bivalent/Poised TSS	HSMMtube	muscle
35	chr4:48485000-48486000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:48485000-48486000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:48485000-48486000	Bivalent Enhancer	Liver	Liver
38	chr4:48485000-48486000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr4:48485000-48486200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:48485000-48486200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr4:48485000-48486200	Active TSS	Brain Substantia Nigra	brain
42	chr4:48485000-48486400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr4:48485000-48486400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:48485000-48486400	Bivalent/Poised TSS	Psoas Muscle	Psoas
45	chr4:48485000-48486400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
46	chr4:48485000-48486600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr4:48485000-48486600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:48485000-48486600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:48485000-48486600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
50	chr4:48485000-48486600	Bivalent/Poised TSS	Fetal Brain Female	brain

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