Variant report

Variant	rs7070769
Chromosome Location	chr10:43895101-43895102
allele	A/G
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	POLR2A	chr10:43888984-43898060	K562	blood:	n/a	n/a
2	RCOR1	chr10:43894814-43895177	HepG2	liver:	n/a	n/a
3	RFX5	chr10:43894921-43895230	HepG2	liver:	n/a	n/a
4	CUX1	chr10:43894516-43895297	K562	blood:	n/a	chr10:43894847-43894856
5	POLR2A	chr10:43894112-43895932	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:43894263-43895515	IMR90	lung:	n/a	n/a
7	WRNIP1	chr10:43894546-43895491	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:43894788-43895222	MCF10A-Er-Src	breast:	n/a	n/a
9	NR3C1	chr10:43894560-43895159	A549	lung:	n/a	chr10:43894881-43894899 chr10:43894882-43894898
10	POLR2A	chr10:43890409-43895371	GM12892	blood:	n/a	n/a
11	CEBPB	chr10:43894727-43895153	MCF-7	breast:	n/a	chr10:43894918-43894929 chr10:43894919-43894930 chr10:43894920-43894929
12	POLR2A	chr10:43894007-43895160	K562	blood:	n/a	n/a
13	CEBPB	chr10:43894722-43895187	K562	blood:	n/a	chr10:43894918-43894929 chr10:43894919-43894930 chr10:43894920-43894929
14	CEBPB	chr10:43894741-43895115	Hela-S3	cervix:	n/a	chr10:43894918-43894929 chr10:43894919-43894930 chr10:43894920-43894929
15	TEAD4	chr10:43893980-43895520	K562	blood:	n/a	chr10:43895016-43895025
16	JUND	chr10:43894780-43895410	HepG2	liver:	n/a	chr10:43895204-43895212
17	POLR2A	chr10:43893253-43895533	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr10:43895079-43895106	K562	blood:	n/a	n/a
19	NR3C1	chr10:43894659-43895110	A549	lung:	n/a	chr10:43894881-43894899 chr10:43894882-43894898
20	POLR2A	chr10:43890420-43895659	GM12892	blood:	n/a	n/a
21	SMC3	chr10:43894808-43895101	HepG2	liver:	n/a	n/a
22	ARID3A	chr10:43894477-43895368	HepG2	liver:	n/a	n/a
23	POLR2A	chr10:43894070-43896282	HepG2	liver:	n/a	n/a
24	FOS	chr10:43894921-43895371	MCF10A-Er-Src	breast:	n/a	chr10:43895204-43895212
25	MXI1	chr10:43894757-43895108	HepG2	liver:	n/a	n/a
26	PBX3	chr10:43894786-43895434	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr10:43894944-43895103	ProgFib	skin:	n/a	n/a
28	FOS	chr10:43894961-43895350	MCF10A-Er-Src	breast:	n/a	chr10:43895204-43895212
29	ZNF384	chr10:43894652-43895194	K562	blood:	n/a	n/a
30	MYBL2	chr10:43894711-43895192	HepG2	liver:	n/a	n/a
31	CEBPB	chr10:43894726-43895119	HepG2	liver:	n/a	chr10:43894918-43894929 chr10:43894919-43894930 chr10:43894920-43894929
32	POLR2A	chr10:43894150-43896238	K562	blood:	n/a	n/a
33	POLR2A	chr10:43894492-43895673	HL-60	blood:	n/a	n/a
34	HDAC2	chr10:43894712-43895206	HepG2	liver:	n/a	n/a
35	POLR2A	chr10:43893291-43895398	GM12891	blood:	n/a	n/a
36	CEBPB	chr10:43894685-43895159	HepG2	liver:	n/a	chr10:43894918-43894929 chr10:43894919-43894930 chr10:43894920-43894929
37	CEBPB	chr10:43894753-43895114	A549	lung:	n/a	chr10:43894918-43894929 chr10:43894919-43894930 chr10:43894920-43894929
38	POLR2A	chr10:43894064-43898053	K562	blood:	n/a	n/a
39	POLR2A	chr10:43894690-43895422	PANC-1	pancreas:	n/a	n/a
40	CEBPB	chr10:43894732-43895281	IMR90	lung:	n/a	chr10:43894918-43894929 chr10:43894919-43894930 chr10:43894920-43894929
41	POLR2A	chr10:43894450-43895568	HepG2	liver:	n/a	n/a
42	MYBL2	chr10:43894578-43895203	HepG2	liver:	n/a	n/a
43	POLR2A	chr10:43894034-43895619	GM12878	blood:	n/a	n/a
44	JUN	chr10:43894781-43895389	HepG2	liver:	n/a	chr10:43895204-43895212
45	EP300	chr10:43894692-43895161	HepG2	liver:	n/a	n/a
46	POLR2A	chr10:43878581-43905107	K562	blood:	n/a	n/a
47	POLR2A	chr10:43894005-43895326	GM12892	blood:	n/a	n/a
48	POLR2A	chr10:43894073-43895684	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr10:43894548-43895321	HCT-116	colon:	n/a	chr10:43894918-43894929 chr10:43894919-43894930 chr10:43894920-43894929
50	POLR2A	chr10:43894065-43895503	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:

Variant related genes	Relation type
HNRNPF	TF binding region
ENSG00000252532	Chromatin interaction
ENSG00000243660	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10732897	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10793430	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10899794	0.85[JPT][hapmap]
rs10899797	0.85[JPT][hapmap]
rs10899798	0.99[ASN][1000 genomes]
rs10899799	0.99[ASN][1000 genomes]
rs11238542	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1126487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1126709	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1416226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2066043	0.96[ASN][1000 genomes]
rs2066044	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2247860	0.94[ASN][1000 genomes]
rs2247979	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs2247981	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs2248332	0.89[ASN][1000 genomes]
rs2248335	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2248469	0.94[ASN][1000 genomes]
rs2248706	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2250444	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs2252783	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2252785	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2252804	0.86[ASN][1000 genomes]
rs2256495	0.96[ASN][1000 genomes]
rs2256613	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2259045	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2260162	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2260200	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2261636	0.85[JPT][hapmap]
rs2261665	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2265886	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2265954	0.91[ASN][1000 genomes]
rs2393954	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2492403	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2492405	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2492408	0.93[ASN][1000 genomes]
rs2492409	0.94[ASN][1000 genomes]
rs2492410	0.94[ASN][1000 genomes]
rs2492411	0.94[ASN][1000 genomes]
rs2492412	0.91[ASN][1000 genomes]
rs2493648	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2812797	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2819021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2819026	0.91[ASN][1000 genomes]
rs2999276	0.99[ASN][1000 genomes]
rs2999282	0.96[ASN][1000 genomes]
rs2999287	0.86[ASN][1000 genomes]
rs3000708	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3006408	0.83[ASN][1000 genomes]
rs3750890	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs4367906	0.83[CEU][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs4551711	0.91[ASN][1000 genomes]
rs4559639	0.90[ASN][1000 genomes]
rs4584528	0.91[ASN][1000 genomes]
rs4597022	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4948726	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs56407131	0.81[EUR][1000 genomes]
rs6421744	0.83[ASN][1000 genomes]
rs6593513	0.87[CEU][hapmap];0.85[JPT][hapmap]
rs7069214	0.91[ASN][1000 genomes]
rs7081729	0.86[ASN][1000 genomes]
rs7089290	0.82[ASN][1000 genomes]
rs7092599	0.99[ASN][1000 genomes]
rs7894374	0.99[ASN][1000 genomes]
rs7905676	0.83[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7914140	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7918726	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7920539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9422371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9422512	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825355	chr10:43890579-43923802	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43892200-43896600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:43893000-43895400	Enhancers	Pancreas	Pancrea
3	chr10:43893000-43895600	Enhancers	Spleen	Spleen
4	chr10:43893000-43897000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:43893200-43895200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:43893200-43895400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr10:43893200-43895400	Flanking Active TSS	Liver	Liver
8	chr10:43893200-43895600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:43893200-43895600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr10:43893200-43895600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:43893200-43895600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr10:43893200-43895600	Enhancers	Small Intestine	intestine
13	chr10:43893200-43898400	Genic enhancers	Hela-S3	cervix
14	chr10:43893200-43901600	Weak transcription	HSMMtube	muscle
15	chr10:43893400-43895600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:43893400-43895600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:43893400-43895600	Enhancers	Psoas Muscle	Psoas
18	chr10:43893400-43896200	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr10:43893400-43899800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
20	chr10:43893400-43901400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr10:43893600-43895200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr10:43893600-43895200	Enhancers	Rectal Smooth Muscle	rectum
23	chr10:43893600-43895200	Enhancers	Stomach Mucosa	stomach
24	chr10:43893600-43895200	Genic enhancers	NH-A	brain
25	chr10:43893600-43895600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr10:43893600-43895600	Enhancers	Thymus	Thymus
27	chr10:43893600-43897000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:43893600-43899000	Enhancers	HUVEC	blood vessel
29	chr10:43893600-43899800	Genic enhancers	NHEK	skin
30	chr10:43893600-43901200	Weak transcription	Brain Angular Gyrus	brain
31	chr10:43893600-43902200	Weak transcription	Aorta	Aorta
32	chr10:43893800-43895600	Enhancers	Gastric	stomach
33	chr10:43893800-43895800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr10:43893800-43897400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:43893800-43897400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:43893800-43897400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
37	chr10:43893800-43898400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr10:43893800-43898800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:43893800-43899000	Weak transcription	Brain Substantia Nigra	brain
40	chr10:43894000-43895200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
41	chr10:43894000-43895400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:43894000-43895800	Genic enhancers	Muscle Satellite Cultured Cells	--
43	chr10:43894000-43899400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:43894000-43899800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:43894000-43901200	Weak transcription	Brain Hippocampus Middle	brain
46	chr10:43894000-43901200	Genic enhancers	Fetal Intestine Small	intestine
47	chr10:43894000-43901400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr10:43894200-43895200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
49	chr10:43894200-43895200	Genic enhancers	HSMM	muscle
50	chr10:43894200-43895400	Genic enhancers	Primary B cells from cord blood	blood

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