Variant report

Variant	rs319518
Chromosome Location	chr13:93876804-93876805
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr13:93876672-93877198	A549	lung:	n/a	n/a
2	MBD4	chr13:93876705-93877278	HepG2	liver:	n/a	n/a
3	TEAD4	chr13:93876659-93877206	A549	lung:	n/a	chr13:93876920-93876929
4	TEAD4	chr13:93876578-93877341	HepG2	liver:	n/a	chr13:93876920-93876929
5	HDAC2	chr13:93876763-93877268	MCF-7	breast:	n/a	n/a
6	BHLHE40	chr13:93876578-93877079	K562	blood:	n/a	n/a
7	FOXA1	chr13:93876652-93877329	HepG2	liver:	n/a	n/a
8	NR2F2	chr13:93876738-93877336	MCF-7	breast:	n/a	n/a
9	MAX	chr13:93876743-93877080	HepG2	liver:	n/a	n/a
10	MBD4	chr13:93876658-93877265	HepG2	liver:	n/a	n/a
11	EP300	chr13:93876717-93877264	HepG2	liver:	n/a	n/a
12	ATF2	chr13:93876719-93877162	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr13:93876780-93877201	HepG2	liver:	n/a	n/a
14	USF1	chr13:93876795-93877100	HepG2	liver:	n/a	n/a
15	MAX	chr13:93876695-93877292	HepG2	liver:	n/a	n/a
16	RCOR1	chr13:93876772-93877179	HepG2	liver:	n/a	n/a
17	ESR1	chr13:93876724-93877219	T-47D	breast:	n/a	n/a
18	MYBL2	chr13:93876649-93877343	HepG2	liver:	n/a	n/a
19	HNF4A	chr13:93876787-93877178	HepG2	liver:	n/a	n/a
20	REST	chr13:93876795-93877138	HepG2	liver:	n/a	n/a
21	FOXA2	chr13:93876661-93877085	A549	lung:	n/a	n/a
22	HNF4G	chr13:93876714-93877195	HepG2	liver:	n/a	chr13:93876987-93877002
23	FOXA2	chr13:93876743-93877205	HepG2	liver:	n/a	n/a
24	TCF12	chr13:93876777-93877184	A549	lung:	n/a	n/a
25	FOSL2	chr13:93876726-93877233	HepG2	liver:	n/a	chr13:93877067-93877076
26	RAD21	chr13:93876795-93877124	HepG2	liver:	n/a	n/a
27	USF1	chr13:93876698-93877092	A549	lung:	n/a	n/a
28	FOSL2	chr13:93876748-93877130	HepG2	liver:	n/a	chr13:93877067-93877076
29	SP1	chr13:93876640-93877209	HepG2	liver:	n/a	n/a
30	CEBPB	chr13:93876787-93877286	MCF-7	breast:	n/a	n/a
31	CHD2	chr13:93876789-93877106	HepG2	liver:	n/a	n/a
32	EP300	chr13:93876642-93877294	HepG2	liver:	n/a	n/a
33	HDAC2	chr13:93876678-93877226	HepG2	liver:	n/a	n/a
34	RXRA	chr13:93876647-93877100	H1-hESC	embryonic stem cell:	n/a	chr13:93876876-93876890
35	EP300	chr13:93876657-93877366	MCF-7	breast:	n/a	n/a
36	JUND	chr13:93876776-93877455	HepG2	liver:	n/a	chr13:93877371-93877381 chr13:93877067-93877076
37	EP300	chr13:93876586-93877335	A549	lung:	n/a	n/a
38	USF1	chr13:93876782-93877050	A549	lung:	n/a	n/a
39	FOXA1	chr13:93876642-93877314	HepG2	liver:	n/a	n/a
40	GABPA	chr13:93876789-93877264	MCF-7	breast:	n/a	n/a
41	CEBPB	chr13:93876804-93877250	HepG2	liver:	n/a	n/a
42	CEBPB	chr13:93876779-93877167	HepG2	liver:	n/a	n/a
43	CEBPZ	chr13:93876795-93877284	HepG2	liver:	n/a	n/a
44	TEAD4	chr13:93876576-93877187	A549	lung:	n/a	chr13:93876920-93876929
45	MAX	chr13:93876654-93877248	A549	lung:	n/a	n/a
46	GATA3	chr13:93876797-93877279	MCF-7	breast:	n/a	n/a
47	ZBTB33	chr13:93876779-93877104	A549	lung:	n/a	n/a
48	HDAC2	chr13:93876723-93877218	HepG2	liver:	n/a	n/a
49	TCF12	chr13:93876720-93877250	SK-N-SH	brain:	n/a	n/a
50	HNF4G	chr13:93876723-93877224	HepG2	liver:	n/a	chr13:93876987-93877002

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:93875719..93877813-chr13:93914572..93917548,2	K562	blood:
2	chr13:93876590..93877329-chr13:93885822..93886900,3	MCF-7	breast:
3	chr13:93875350..93876987-chr9:134150434..134153126,2	K562	blood:
4	chr13:93876570..93877337-chr13:93886214..93886903,5	MCF-7	breast:
5	chr13:93876646..93877175-chr13:93885988..93886813,2	MCF-7	breast:
6	chr13:93874469..93877049-chr13:93887079..93889596,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCT-16	chr13:93876780-93879077	NONHSAT034710

No data

Variant related genes	Relation type
GPC6	TF binding region
ENSG00000126882	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1413066	0.85[AFR][1000 genomes]
rs1413067	0.85[AFR][1000 genomes]
rs16948474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1760330	0.85[AFR][1000 genomes]
rs1810933	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1855274	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1855275	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs223307	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2388917	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2780374	0.88[AFR][1000 genomes]
rs2780381	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2780382	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2781035	0.85[AFR][1000 genomes]
rs2781051	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2781052	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319517	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs319520	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319521	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320070	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320071	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320072	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs320075	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320076	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320078	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320079	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320080	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320081	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs364631	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs366378	0.87[AFR][1000 genomes]
rs367924	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs368555	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs371381	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs372160	0.85[AFR][1000 genomes]
rs374389	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs376830	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs376851	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs380416	0.85[AFR][1000 genomes]
rs380786	0.85[AFR][1000 genomes]
rs381662	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs385054	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs387992	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs389587	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs390904	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs394973	0.85[AFR][1000 genomes]
rs397442	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs415326	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs417537	0.80[YRI][hapmap];0.85[AFR][1000 genomes]
rs417815	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs418948	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs420913	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs421381	0.81[AFR][1000 genomes]
rs421861	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs425257	0.85[AFR][1000 genomes]
rs425955	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs426342	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs426397	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs426787	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs427399	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs427409	0.85[AFR][1000 genomes]
rs427503	0.85[AFR][1000 genomes]
rs428015	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs4300492	0.83[AFR][1000 genomes]
rs431476	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs432632	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs432800	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs433129	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs433135	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs437435	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs437703	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs437913	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs438139	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs439216	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs443603	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs444365	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs448518	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs450509	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs450732	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs451048	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs454092	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475566	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489911	0.80[YRI][hapmap];0.85[AFR][1000 genomes]
rs489934	0.85[AFR][1000 genomes]
rs521884	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs549385	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7330458	0.85[AFR][1000 genomes]
rs914865	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs914866	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93869000-93878200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:93870600-93877000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:93871200-93877800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:93871200-93878400	Weak transcription	Fetal Brain Female	brain
5	chr13:93874800-93878200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:93875000-93878200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:93875400-93877000	Enhancers	HepG2	liver
8	chr13:93875400-93877400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:93875400-93878200	Weak transcription	Right Atrium	heart
10	chr13:93875600-93878000	Weak transcription	Brain Germinal Matrix	brain
11	chr13:93875600-93878200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:93875800-93877000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:93875800-93878400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:93876000-93878000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:93876400-93877000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr13:93876600-93877200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:93876600-93877200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr13:93876600-93877600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr13:93876600-93877600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:93876600-93877600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr13:93876600-93877600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr13:93876600-93878000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr13:93876600-93878000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:93876600-93878200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr13:93876600-93878400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr13:93876600-93878400	Enhancers	Fetal Intestine Small	intestine
27	chr13:93876600-93878600	Weak transcription	NHDF-Ad	bronchial
28	chr13:93876600-93878800	Flanking Active TSS	Liver	Liver
29	chr13:93876800-93877000	Enhancers	Colonic Mucosa	Colon
30	chr13:93876800-93877000	Enhancers	HMEC	breast
31	chr13:93876800-93877000	Enhancers	HSMM	muscle
32	chr13:93876800-93877200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr13:93876800-93877200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:93876800-93877200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:93876800-93877200	Enhancers	Fetal Kidney	kidney
36	chr13:93876800-93877400	Enhancers	Fetal Lung	lung
37	chr13:93876800-93877400	Enhancers	Osteobl	bone
38	chr13:93876800-93877600	Enhancers	Fetal Heart	heart
39	chr13:93876800-93878000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:93876800-93878200	Enhancers	NH-A	brain
41	chr13:93876800-93878400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr13:93876800-93878400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr13:93876800-93878400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr13:93876800-93878400	Enhancers	Fetal Intestine Large	intestine
45	chr13:93876800-93878600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr13:93876800-93878600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:93876800-93879000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:93876800-93879000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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