Variant report

Variant	rs71494764
Chromosome Location	chr10:45745983-45745984
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	RAD21	chr10:45745456-45745984	GM12878	blood:	n/a	chr10:45745693-45745705 chr10:45745690-45745697 chr10:45745688-45745707
2	CTCF	chr10:45744713-45746151	A549	lung:	n/a	chr10:45745687-45745705 chr10:45745689-45745710 chr10:45745688-45745704 chr10:45745692-45745700
3	CTCF	chr10:45745860-45746010	AoAF	blood vessel:	n/a	n/a
4	YY1	chr10:45745777-45746252	GM12892	blood:	n/a	n/a
5	RAD21	chr10:45745461-45746134	SK-N-SH	brain:	n/a	chr10:45745693-45745705 chr10:45745690-45745697 chr10:45745688-45745707
6	ZNF384	chr10:45745558-45746075	GM12878	blood:	n/a	n/a
7	YY1	chr10:45745749-45746105	GM12878	blood:	n/a	n/a
8	CTCF	chr10:45745860-45746010	GM12868	blood:	n/a	n/a
9	MAX	chr10:45745603-45746510	NB4	blood:	n/a	chr10:45746330-45746340
10	YY1	chr10:45745633-45746130	GM12878	blood:	n/a	n/a
11	CTCF	chr10:45744440-45746212	SK-N-SH	brain:	n/a	chr10:45745687-45745705 chr10:45745689-45745710 chr10:45745688-45745704 chr10:45745692-45745700
12	SETDB1	chr10:45745625-45745987	U2OS	brain:	n/a	n/a
13	CTCF	chr10:45745860-45746010	BJ	skin:	n/a	n/a
14	CTCF	chr10:45745960-45746110	HMEC	breast:	n/a	n/a
15	RAD21	chr10:45745531-45745984	GM12878	blood:	n/a	chr10:45745693-45745705 chr10:45745690-45745697 chr10:45745688-45745707
16	CTCF	chr10:45745880-45746030	Caco-2	colon:	n/a	n/a
17	EBF1	chr10:45745706-45746195	GM12878	blood:	n/a	chr10:45746020-45746031
18	CTCF	chr10:45745920-45746070	SAEC	small airway:	n/a	n/a
19	RAD21	chr10:45745435-45746033	HCT-116	colon:	n/a	chr10:45745693-45745705 chr10:45745690-45745697 chr10:45745688-45745707
20	MXI1	chr10:45745616-45746081	GM12878	blood:	n/a	n/a
21	RAD21	chr10:45745499-45746051	MCF-7	breast:	n/a	chr10:45745693-45745705 chr10:45745690-45745697 chr10:45745688-45745707
22	EBF1	chr10:45745772-45746393	GM12878	blood:	n/a	chr10:45746020-45746031
23	CTCF	chr10:45745900-45746050	AG04449	skin:	n/a	n/a
24	POLR2A	chr10:45745787-45746635	Raji	blood:	n/a	n/a
25	BCLAF1	chr10:45745553-45746201	GM12878	blood:	n/a	n/a
26	MYC	chr10:45745614-45746650	NB4	blood:	n/a	chr10:45746330-45746340
27	EBF1	chr10:45745779-45746187	GM12878	blood:	n/a	chr10:45746020-45746031
28	TCF3	chr10:45745940-45746069	GM12878	blood:	n/a	n/a
29	CTCF	chr10:45745966-45746071	Fibrobl	skin:	n/a	n/a
30	CEBPB	chr10:45745591-45746073	A549	lung:	n/a	n/a
31	RUNX3	chr10:45745458-45746182	GM12878	blood:	n/a	n/a
32	CEBPB	chr10:45745595-45746030	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr10:45745365-45745999	HCT-116	colon:	n/a	chr10:45745687-45745705 chr10:45745689-45745710 chr10:45745688-45745704 chr10:45745692-45745700
34	YY1	chr10:45745755-45746027	GM12892	blood:	n/a	n/a
35	BHLHE40	chr10:45745576-45746060	GM12878	blood:	n/a	n/a
36	TBL1XR1	chr10:45745591-45746002	GM12878	blood:	n/a	n/a
37	CEBPB	chr10:45745548-45745986	K562	blood:	n/a	n/a
38	RCOR1	chr10:45745572-45745988	GM12878	blood:	n/a	n/a
39	CTCF	chr10:45745983-45746016	GM19238	blood:	n/a	n/a
40	ZNF384	chr10:45744783-45746037	K562	blood:	n/a	n/a

Variant related genes	Relation type
CUBNP2	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12783182	0.80[ASN][1000 genomes]
rs34297550	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34998367	0.80[ASN][1000 genomes]
rs35001574	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35267934	0.80[ASN][1000 genomes]
rs35555369	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57398542	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58167894	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6593478	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7071714	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7075460	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7083500	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7085205	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs71494771	0.87[AMR][1000 genomes]
rs7896861	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7898465	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2750897	chr10:45550145-45820136	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv895105	chr10:45636867-45928822	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45744800-45746600	Active TSS	A549	lung
2	chr10:45745000-45746000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:45745400-45746000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:45745400-45746000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:45745400-45746000	Active TSS	Muscle Satellite Cultured Cells	--
6	chr10:45745400-45746000	Active TSS	Adipose Nuclei	Adipose
7	chr10:45745400-45746000	Active TSS	Brain Anterior Caudate	brain
8	chr10:45745400-45746000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr10:45745400-45746000	Active TSS	GM12878-XiMat	blood
10	chr10:45745400-45746000	Active TSS	NHEK	skin
11	chr10:45745400-45746200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr10:45745400-45746800	Enhancers	Primary B cells from cord blood	blood
13	chr10:45745400-45747000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr10:45745400-45747000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr10:45745600-45746000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr10:45745600-45746000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr10:45745600-45746000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr10:45745600-45746000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr10:45745600-45746000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr10:45745600-45746000	Enhancers	Dnd41	blood
21	chr10:45745600-45746000	Enhancers	HepG2	liver
22	chr10:45745600-45746000	Bivalent/Poised TSS	HSMMtube	muscle
23	chr10:45745600-45746000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr10:45745600-45746200	Enhancers	Fetal Muscle Trunk	muscle
25	chr10:45745600-45746200	Enhancers	Placenta	Placenta
26	chr10:45745600-45746200	Active TSS	Hela-S3	cervix
27	chr10:45745600-45750200	Weak transcription	Right Atrium	heart
28	chr10:45745800-45746000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr10:45745800-45746000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:45745800-45746000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:45745800-45746000	Bivalent Enhancer	Colonic Mucosa	Colon
32	chr10:45745800-45746000	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr10:45745800-45746000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr10:45745800-45746000	Enhancers	K562	blood
35	chr10:45745800-45746200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:45745800-45746200	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr10:45745800-45746200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:45745800-45746200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr10:45745800-45746400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr10:45745800-45746600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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