Variant report

Variant	rs2252281
Chromosome Location	chr17:19437187-19437188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr17:19436917-19437346	HepG2	liver:	n/a	n/a
2	ELF1	chr17:19436985-19437285	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:19437005-19437306	HUVEC	blood vessel:	n/a	n/a
4	REST	chr17:19437150-19437491	A549	lung:	n/a	n/a
5	MAX	chr17:19436948-19437704	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr17:19436802-19437398	HepG2	liver:	n/a	n/a
7	MAX	chr17:19436769-19437882	A549	lung:	n/a	n/a
8	CEBPD	chr17:19436904-19437400	HepG2	liver:	n/a	n/a
9	TAF1	chr17:19436868-19437779	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:19436957-19437354	A549	lung:	n/a	n/a
11	MAZ	chr17:19436718-19437397	HepG2	liver:	n/a	n/a
12	MXI1	chr17:19436721-19438071	HepG2	liver:	n/a	n/a
13	POLR2A	chr17:19437036-19437323	ProgFib	skin:	n/a	n/a
14	POLR2A	chr17:19437026-19437379	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr17:19437187-19437201	MCF-7	breast:	n/a	n/a
16	POLR2A	chr17:19436768-19437304	MCF-7	breast:	n/a	n/a
17	HEY1	chr17:19436862-19437429	HepG2	liver:	n/a	n/a
18	MAX	chr17:19436638-19438058	A549	lung:	n/a	n/a
19	MAX	chr17:19436954-19437452	SK-N-SH	brain:	n/a	n/a
20	E2F6	chr17:19436875-19437865	A549	lung:	n/a	chr17:19437463-19437471 chr17:19437463-19437470 chr17:19437462-19437473 chr17:19437463-19437471 chr17:19437462-19437472 chr17:19436915-19436925
21	MYC	chr17:19437149-19437333	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr17:19436968-19437474	MCF-7	breast:	n/a	n/a
23	POLR2A	chr17:19436836-19437296	HepG2	liver:	n/a	n/a
24	POLR2A	chr17:19436874-19437353	HepG2	liver:	n/a	n/a
25	POLR2A	chr17:19436595-19437998	HepG2	liver:	n/a	n/a
26	POLR2A	chr17:19436919-19437472	A549	lung:	n/a	n/a
27	HDAC2	chr17:19437057-19437935	MCF-7	breast:	n/a	n/a
28	POLR2A	chr17:19436842-19437852	HepG2	liver:	n/a	n/a
29	HDAC2	chr17:19436626-19437287	HepG2	liver:	n/a	n/a
30	MAX	chr17:19437047-19437263	HepG2	liver:	n/a	n/a
31	MYC	chr17:19437030-19437366	MCF-7	breast:	n/a	n/a
32	TAF1	chr17:19436977-19437848	A549	lung:	n/a	n/a
33	MAX	chr17:19437073-19437544	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr17:19436899-19437410	A549	lung:	n/a	n/a
35	POLR2A	chr17:19437035-19437406	HUVEC	blood vessel:	n/a	n/a
36	E2F6	chr17:19437108-19437782	H1-hESC	embryonic stem cell:	n/a	chr17:19437463-19437471 chr17:19437463-19437470 chr17:19437462-19437473 chr17:19437463-19437471 chr17:19437462-19437472
37	MAX	chr17:19437028-19437844	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr17:19436919-19437422	HepG2	liver:	n/a	n/a
39	TAF1	chr17:19437078-19437319	SK-N-SH	brain:	n/a	n/a
40	TCF12	chr17:19436936-19437567	ECC-1	luminal epithelium:	n/a	n/a
41	TAF1	chr17:19437025-19437537	ECC-1	luminal epithelium:	n/a	n/a
42	MYC	chr17:19437142-19437215	MCF-7	breast:	n/a	n/a
43	JUND	chr17:19436975-19437517	A549	lung:	n/a	n/a
44	CHD2	chr17:19437140-19437339	HepG2	liver:	n/a	n/a
45	POLR2A	chr17:19436816-19437725	A549	lung:	n/a	n/a
46	POLR2A	chr17:19436972-19437379	A549	lung:	n/a	n/a
47	EP300	chr17:19437004-19437332	HepG2	liver:	n/a	n/a
48	HNF4G	chr17:19436778-19437240	HepG2	liver:	n/a	n/a
49	CREB1	chr17:19436943-19437324	A549	lung:	n/a	n/a
50	HEY1	chr17:19436646-19437445	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:19437157-19437207	Hepatocyte	liver:	n/a
2	chr17:19437181-19437231	A549	lung:	n/a
3	chr17:19437157-19437207	GM12891	blood:	n/a
4	chr17:19437157-19437207	MCF-7	breast:	n/a
5	chr17:19437181-19437231	HCF	heart:	n/a
6	chr17:19437181-19437231	PrEC	prostate:	n/a
7	chr17:19437181-19437231	MCF-7	breast:	n/a
8	chr17:19437181-19437231	HPAEpiC	pulmonary alveolar:	n/a
9	chr17:19437181-19437231	RPTEC	kidney:	n/a
10	chr17:19437157-19437207	K562	blood:	n/a
11	chr17:19437157-19437207	A549	lung:	n/a
12	chr17:19437181-19437231	NHBE	bronchial:	n/a
13	chr17:19437157-19437207	ProgFib	skin:	n/a
14	chr17:19437157-19437207	HL-60	blood:	n/a
15	chr17:19437181-19437231	HRE	kidney:	n/a
16	chr17:19437181-19437231	HEK293	kidney:	embryo
17	chr17:19437181-19437231	NHDF-neo	bronchial:	n/a
18	chr17:19437157-19437207	Caco-2	colon:	n/a
19	chr17:19437157-19437207	NB4	blood:	n/a
20	chr17:19437181-19437231	Jurkat	blood:	n/a
21	chr17:19437157-19437207	HMEC	breast:	n/a
22	chr17:19437181-19437231	GM12878	blood:	n/a
23	chr17:19437157-19437207	NHDF-neo	bronchial:	n/a
24	chr17:19437157-19437207	SK-N-SH_RA	brain:	n/a
25	chr17:19437157-19437207	SK-N-SH	brain:	n/a
26	chr17:19437157-19437207	GM06990	blood:	n/a
27	chr17:19437157-19437207	PFSK-1	brain:	n/a
28	chr17:19437181-19437231	IMR90	lung:	fetal
29	chr17:19437181-19437231	ovcar-3	ovarian:	n/a
30	chr17:19437181-19437231	SK-N-MC	brain:	n/a
31	chr17:19437181-19437231	GM19239	blood:	n/a
32	chr17:19437157-19437207	AoSMC	blood vessel:	n/a
33	chr17:19437157-19437207	HEK293	kidney:	embryo
34	chr17:19437181-19437231	MCF10A-Er-Src	breast:	n/a
35	chr17:19437157-19437207	IMR90	lung:	fetal
36	chr17:19437181-19437231	BJ	skin:	n/a
37	chr17:19437181-19437231	Caco-2	colon:	n/a
38	chr17:19437181-19437231	PFSK-1	brain:	n/a
39	chr17:19437157-19437207	LNCaP	prostate:	n/a
40	chr17:19437157-19437207	HNPCEpiC	eye:	n/a
41	chr17:19437181-19437231	HCPEpiC	choroid plexus:	n/a
42	chr17:19437181-19437231	AoSMC	blood vessel:	n/a
43	chr17:19437181-19437231	BE2_C	brain:	n/a
44	chr17:19437157-19437207	HIPEpiC	eye:	n/a
45	chr17:19437157-19437207	HCT-116	colon:	n/a
46	chr17:19437181-19437231	NT2-D1	testis:	n/a
47	chr17:19437181-19437231	ProgFib	skin:	n/a
48	chr17:19437181-19437231	GM12892	blood:	n/a
49	chr17:19437181-19437231	AG04450	lung:	fetal
50	chr17:19437181-19437231	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19435840..19438479-chr17:19458086..19460035,3	MCF-7	breast:

No data

Variant related genes	Relation type
SLC47A1	TF binding region
SLC47A1	CpG island
ENSG00000142494	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11870808	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11871125	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2440164	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2440165	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2453578	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2453579	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2453580	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2453581	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2453582	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2453583	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453584	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55661368	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8071709	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs894680	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894682	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	esv3335342	chr17:19436410-19438558	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2252281	SLC47A1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19436200-19437200	Flanking Active TSS	Liver	Liver
2	chr17:19436400-19437200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr17:19436400-19437200	Enhancers	Spleen	Spleen
4	chr17:19436400-19437800	Bivalent/Poised TSS	NHEK	skin
5	chr17:19436400-19438000	Bivalent Enhancer	Fetal Brain Male	brain
6	chr17:19436400-19438200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr17:19436400-19438400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr17:19436400-19438400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr17:19436600-19437200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:19436600-19437200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr17:19436600-19437200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:19436600-19437200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:19436600-19437200	Bivalent Enhancer	Placenta	Placenta
14	chr17:19436600-19437200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
15	chr17:19436600-19437400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr17:19436600-19437400	Active TSS	NHDF-Ad	bronchial
17	chr17:19436600-19437600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr17:19436600-19437600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr17:19436600-19437600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
20	chr17:19436600-19437800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr17:19436600-19437800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
22	chr17:19436600-19437800	Active TSS	Colon Smooth Muscle	Colon
23	chr17:19436600-19437800	Active TSS	Rectal Smooth Muscle	rectum
24	chr17:19436600-19438000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr17:19436600-19438000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr17:19436600-19438000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:19436600-19438000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr17:19436600-19438000	Active TSS	Brain Substantia Nigra	brain
29	chr17:19436600-19438000	Active TSS	Fetal Kidney	kidney
30	chr17:19436600-19438200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr17:19436600-19438200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr17:19436600-19438200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:19436600-19438200	Active TSS	Psoas Muscle	Psoas
34	chr17:19436800-19437200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:19436800-19437200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr17:19436800-19437200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:19436800-19437200	Enhancers	Lung	lung
38	chr17:19436800-19437200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
39	chr17:19436800-19437400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:19436800-19437400	Bivalent/Poised TSS	Fetal Lung	lung
41	chr17:19436800-19437600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr17:19436800-19437600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr17:19436800-19437600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
44	chr17:19436800-19437600	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr17:19436800-19437600	Bivalent/Poised TSS	NH-A	brain
46	chr17:19436800-19437600	Active TSS	Osteobl	bone
47	chr17:19436800-19437800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:19436800-19437800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr17:19436800-19437800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr17:19436800-19437800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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