Variant report

Variant	rs547868387
Chromosome Location	chr4:568315-568316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr4:568103-568355	GM12891	blood:	n/a	chr4:568235-568248
2	REST	chr4:568196-568583	PFSK-1	brain:	n/a	chr4:568338-568351 chr4:568341-568354
3	TCF12	chr4:568136-568333	GM12878	blood:	n/a	chr4:568255-568265
4	SPI1	chr4:568053-568353	GM12878	blood:	n/a	chr4:568235-568248
5	SPI1	chr4:568097-568366	GM12891	blood:	n/a	chr4:568235-568248
6	SPI1	chr4:568012-568734	GM12878	blood:	n/a	chr4:568235-568248

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:568298-568348	MCF-7	breast:	n/a
2	chr4:568298-568348	HIPEpiC	eye:	n/a
3	chr4:568298-568348	HCPEpiC	choroid plexus:	n/a
4	chr4:568298-568348	GM12891	blood:	n/a
5	chr4:568298-568348	AG09319	gingival:	n/a
6	chr4:568298-568348	T-47D	breast:	n/a
7	chr4:568298-568348	AoSMC	blood vessel:	n/a
8	chr4:568298-568348	HAEpiC	amniotic membrane:	n/a
9	chr4:568298-568348	NH-A	brain:	n/a
10	chr4:568298-568348	HEK293	kidney:	embryo
11	chr4:568298-568348	HepG2	liver:	n/a
12	chr4:568298-568348	GM06990	blood:	n/a
13	chr4:568298-568348	HL-60	blood:	n/a
14	chr4:568298-568348	HRCEpiC	kidney:	n/a
15	chr4:568298-568348	A549	lung:	n/a
16	chr4:568298-568348	SKMC	muscle:	n/a
17	chr4:568298-568348	NT2-D1	testis:	n/a
18	chr4:568298-568348	NHDF-neo	bronchial:	n/a
19	chr4:568298-568348	AG10803	skin:	n/a
20	chr4:568298-568348	BE2_C	brain:	n/a
21	chr4:568298-568348	K562	blood:	n/a
22	chr4:568298-568348	AG09309	skin:	n/a
23	chr4:568298-568348	AG04450	lung:	fetal
24	chr4:568298-568348	ovcar-3	ovarian:	n/a
25	chr4:568298-568348	Jurkat	blood:	n/a
26	chr4:568298-568348	HRPEpiC	eye:	n/a
27	chr4:568298-568348	BJ	skin:	n/a
28	chr4:568298-568348	GM12892	blood:	n/a
29	chr4:568298-568348	NB4	blood:	n/a
30	chr4:568298-568348	HCF	heart:	n/a
31	chr4:568298-568348	SAEC	small airway:	n/a
32	chr4:568298-568348	GM19239	blood:	n/a
33	chr4:568298-568348	LNCaP	prostate:	n/a
34	chr4:568298-568348	HUVEC	blood vessel:	n/a
35	chr4:568298-568348	MCF10A-Er-Src	breast:	n/a
36	chr4:568298-568348	HCT-116	colon:	n/a
37	chr4:568298-568348	HRE	kidney:	n/a
38	chr4:568298-568348	HNPCEpiC	eye:	n/a
39	chr4:568298-568348	SK-N-SH_RA	brain:	n/a
40	chr4:568298-568348	PANC-1	pancreas:	n/a
41	chr4:568298-568348	HMEC	breast:	n/a
42	chr4:568298-568348	SK-N-MC	brain:	n/a
43	chr4:568298-568348	SK-N-SH	brain:	n/a
44	chr4:568298-568348	CMK	blood:	n/a
45	chr4:568298-568348	IMR90	lung:	fetal
46	chr4:568298-568348	ECC-1	luminal epithelium:	n/a
47	chr4:568298-568348	GM12878	blood:	n/a
48	chr4:568298-568348	RPTEC	kidney:	n/a
49	chr4:568298-568348	PrEC	prostate:	n/a
50	chr4:568298-568348	PFSK-1	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIGG-1	chr4:562509-568807	l_2577_chr4:560751-568807_brain

No data

Variant related genes	Relation type
ENSG00000273238	TF binding region
ENSG00000273238	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
11	esv1796312	chr4:560701-569738	Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
12	esv3420187	chr4:567777-570825	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
13	esv3436442	chr4:568052-571400	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:566200-568600	Weak transcription	Gastric	stomach
2	chr4:567200-572200	Active TSS	Brain Angular Gyrus	brain
3	chr4:567400-568800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:567400-569000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr4:567600-570800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr4:568000-568400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
7	chr4:568200-568400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
8	chr4:568200-568400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr4:568200-568400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:568200-568400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
11	chr4:568200-568400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
12	chr4:568200-568400	Bivalent Enhancer	Fetal Intestine Small	intestine
13	chr4:568200-568600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
14	chr4:568200-568600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:568200-568600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
16	chr4:568200-568600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:568200-568600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr4:568200-568600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
19	chr4:568200-568600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
20	chr4:568200-568600	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr4:568200-568600	Bivalent Enhancer	Fetal Stomach	stomach
22	chr4:568200-568800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
23	chr4:568200-568800	Bivalent Enhancer	Fetal Brain Male	brain
24	chr4:568200-568800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr4:568200-569000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:568200-569200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
27	chr4:568200-569200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:568200-569400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:568200-569400	Bivalent Enhancer	Spleen	Spleen
30	chr4:568200-570800	Active TSS	Brain Anterior Caudate	brain

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