Variant report

Variant	rs11048380
Chromosome Location	chr12:26170583-26170584
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:26170457-26170955	HepG2	liver:	n/a	n/a
2	CTCF	chr12:26170539-26170913	A549	lung:	n/a	n/a
3	CTCF	chr12:26170560-26170710	NHEK	skin:	n/a	n/a
4	POLR2A	chr12:26170547-26170670	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr12:26170342-26171066	HCT-116	colon:	n/a	n/a
6	CTCF	chr12:26170549-26170615	Lung_OC	lung:	n/a	n/a
7	CTCF	chr12:26170498-26170838	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr12:26170340-26170928	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr12:26170235-26171042	A549	lung:	n/a	n/a
10	SMC3	chr12:26170534-26170914	HepG2	liver:	n/a	n/a
11	CTCF	chr12:26170536-26170897	A549	lung:	n/a	n/a
12	CTCF	chr12:26170579-26170787	MCF-7	breast:	n/a	n/a
13	RAD21	chr12:26170579-26170890	GM12878	blood:	n/a	n/a
14	CTCF	chr12:26170479-26170864	HepG2	liver:	n/a	n/a
15	CTCF	chr12:26170567-26170804	GM12892	blood:	n/a	n/a
16	RAD21	chr12:26170401-26171017	A549	lung:	n/a	n/a
17	CTCF	chr12:26170546-26170920	K562	blood:	n/a	n/a
18	RAD21	chr12:26170468-26170986	IMR90	lung:	n/a	n/a
19	RAD21	chr12:26170393-26170917	SK-N-SH_RA	brain:	n/a	n/a
20	RAD21	chr12:26170547-26170894	HepG2	liver:	n/a	n/a
21	CTCF	chr12:26170553-26170857	K562	blood:	n/a	n/a
22	RAD21	chr12:26170376-26171033	MCF-7	breast:	n/a	n/a
23	ZNF143	chr12:26170556-26170896	GM12878	blood:	n/a	n/a
24	CTCF	chr12:26170569-26170789	GM12891	blood:	n/a	n/a
25	RAD21	chr12:26170554-26170908	A549	lung:	n/a	n/a
26	RAD21	chr12:26170562-26170858	GM12878	blood:	n/a	n/a
27	ATF2	chr12:26170487-26170862	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr12:26170573-26170861	MCF-7	breast:	n/a	n/a
29	SMC3	chr12:26170467-26171021	SK-N-SH	brain:	n/a	n/a
30	CTCF	chr12:26170521-26170795	Fibrobl	skin:	n/a	n/a
31	RAD21	chr12:26170522-26170910	HepG2	liver:	n/a	n/a
32	RAD21	chr12:26170538-26170899	GM12878	blood:	n/a	n/a
33	CTCF	chr12:26170521-26170952	GM12878	blood:	n/a	n/a
34	CTCF	chr12:26170552-26170830	A549	lung:	n/a	n/a
35	CTCF	chr12:26170424-26171047	HCT-116	colon:	n/a	n/a
36	RAD21	chr12:26170469-26171041	HCT-116	colon:	n/a	n/a
37	CTCF	chr12:26170540-26170690	WI-38	lung:	n/a	n/a
38	RAD21	chr12:26170472-26170971	MCF-7	breast:	n/a	n/a
39	RAD21	chr12:26170497-26170955	ECC-1	luminal epithelium:	n/a	n/a
40	RAD21	chr12:26170374-26171036	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr12:26170566-26170810	GM19238	blood:	n/a	n/a
42	RAD21	chr12:26170486-26170942	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr12:26170451-26170960	K562	blood:	n/a	n/a
44	RAD21	chr12:26170413-26171025	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr12:26170421-26170905	H1-hESC	embryonic stem cell:	n/a	n/a
46	SMC3	chr12:26170535-26170920	GM12878	blood:	n/a	n/a
47	CTCF	chr12:26170462-26170896	Gliobla	brain:	n/a	n/a
48	CTCF	chr12:26170495-26170899	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr12:26170580-26170730	HFF-Myc	foreskin:	n/a	n/a
50	CTCF	chr12:26170542-26170794	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
RASSF8	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10505990	0.81[JPT][hapmap]
rs10842643	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10842644	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10842653	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11048360	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11048372	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11048376	0.82[JPT][hapmap]
rs11048378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11048379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11048381	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11048382	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11048383	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11048384	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11048389	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11048390	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1120064	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1149804	0.82[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11561207	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12227689	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12578169	1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12579489	0.83[JPT][hapmap];0.81[AMR][1000 genomes]
rs12581098	0.83[JPT][hapmap]
rs12581361	0.83[JPT][hapmap]
rs12812200	0.88[CHB][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12812752	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12813641	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818478	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12831248	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1390326	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1495660	0.81[AMR][1000 genomes]
rs1691889	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16929784	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16929817	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16929830	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16929846	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16929940	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16929945	1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16929950	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16929958	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16929973	0.82[JPT][hapmap]
rs2055180	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2132317	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2279680	0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2343201	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2643941	1.00[CEU][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34294573	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34595529	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35924984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3741546	0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs3741547	0.83[JPT][hapmap]
rs3803009	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58299475	0.81[AMR][1000 genomes]
rs59757232	0.81[AMR][1000 genomes]
rs60335536	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61622173	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6487525	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs706524	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs706526	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs706531	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs706532	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs706533	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs706538	0.94[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7132590	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7134721	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7298162	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7309394	0.82[JPT][hapmap]
rs7313961	0.81[JPT][hapmap]
rs7953171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7963603	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7963856	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829837	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs829987	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs853656	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs954476	0.82[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26160600-26170600	Weak transcription	Fetal Intestine Small	intestine
2	chr12:26160600-26171600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:26164600-26171600	Weak transcription	NH-A	brain
4	chr12:26164800-26170600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:26164800-26173200	Weak transcription	HMEC	breast
6	chr12:26165000-26171600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:26165200-26171400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:26167200-26174200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:26167400-26171600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:26167400-26180600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:26168200-26171000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:26168200-26171000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:26168800-26172600	Enhancers	NHDF-Ad	bronchial
14	chr12:26169000-26171800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:26169200-26170800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:26169200-26171000	Enhancers	HUVEC	blood vessel
17	chr12:26169200-26172600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:26169400-26185400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:26169600-26170800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:26169600-26173000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:26169600-26182000	Weak transcription	NHLF	lung
22	chr12:26170000-26171000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:26170000-26173200	Enhancers	Osteobl	bone
24	chr12:26170200-26170600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:26170200-26170800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr12:26170200-26171000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:26170200-26171200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:26170400-26170600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr12:26170400-26170600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:26170400-26170600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:26170400-26170600	Enhancers	Liver	Liver
32	chr12:26170400-26170600	Active TSS	Brain Anterior Caudate	brain
33	chr12:26170400-26170600	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr12:26170400-26170600	Enhancers	Gastric	stomach
35	chr12:26170400-26170600	Active TSS	Hela-S3	cervix
36	chr12:26170400-26170800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:26170400-26170800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:26170400-26170800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr12:26170400-26170800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr12:26170400-26170800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:26170400-26170800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:26170400-26170800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:26170400-26170800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:26170400-26170800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:26170400-26170800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:26170400-26170800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:26170400-26170800	Enhancers	Adipose Nuclei	Adipose
48	chr12:26170400-26170800	Enhancers	Aorta	Aorta
49	chr12:26170400-26170800	Enhancers	Brain Angular Gyrus	brain
50	chr12:26170400-26170800	Enhancers	Brain Hippocampus Middle	brain

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