Variant report

Variant	rs11033048
Chromosome Location	chr11:35289043-35289044
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	TCF12	chr11:35288882-35289565	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr11:35288958-35289677	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr11:35288920-35289576	SK-N-SH	brain:	n/a	n/a
4	FOSL2	chr11:35288979-35289650	SK-N-SH	brain:	n/a	chr11:35289257-35289265 chr11:35289258-35289265 chr11:35289257-35289265
5	NFIC	chr11:35288882-35289552	SK-N-SH	brain:	n/a	n/a
6	JUND	chr11:35288920-35289610	SK-N-SH	brain:	n/a	chr11:35289257-35289265 chr11:35289258-35289265 chr11:35289257-35289265
7	GATA3	chr11:35288897-35289566	SK-N-SH	brain:	n/a	n/a
8	TEAD4	chr11:35288965-35289581	SK-N-SH	brain:	n/a	n/a
9	JUND	chr11:35288950-35289537	SK-N-SH	brain:	n/a	chr11:35289257-35289265 chr11:35289258-35289265 chr11:35289257-35289265
10	EP300	chr11:35288947-35289585	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr11:35289023-35289573	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35282207..35284321-chr11:35287540..35289873,2	MCF-7	breast:
2	chr11:35287643..35289884-chr11:35306047..35307843,2	MCF-7	breast:

Variant related genes	Relation type
SLC1A2	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1043101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10742339	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10742340	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10742341	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10768118	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10768120	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10768121	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10768122	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10768123	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10768126	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10836356	0.99[ASN][1000 genomes]
rs10836360	1.00[CEU][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10836361	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10836362	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10836363	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10836364	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10836367	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10836369	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11033045	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11033046	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11524863	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12361171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12796856	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1570214	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1570215	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17378105	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3088168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35629461	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3763888	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3794086	0.92[CEU][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3794089	0.96[CEU][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3794090	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3794091	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3794098	1.00[CEU][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3794099	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3794100	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3794101	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3794102	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3794103	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3847604	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4755394	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4755395	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4756203	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4756204	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4756205	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4756206	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57339940	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6484778	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7105505	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7105690	1.00[CEU][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7121587	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs736374	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7946149	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs932633	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs932635	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs957350	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9633870	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][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	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv832120	chr11:35277410-35490304	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35265800-35305800	Weak transcription	HepG2	liver
2	chr11:35270200-35292600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:35270400-35296400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:35270400-35307000	Weak transcription	Fetal Brain Male	brain
5	chr11:35282200-35297000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:35282200-35297000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:35282400-35289200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:35282400-35296600	Weak transcription	Aorta	Aorta
9	chr11:35282600-35296800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:35283000-35289400	Weak transcription	NHDF-Ad	bronchial
11	chr11:35283000-35302000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:35284600-35296600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:35284600-35300800	Weak transcription	Brain Angular Gyrus	brain
14	chr11:35284800-35296600	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:35285800-35289800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:35285800-35308800	Weak transcription	Gastric	stomach
17	chr11:35286000-35289600	Enhancers	Primary hematopoietic stem cells	blood
18	chr11:35286400-35293800	Weak transcription	Brain Anterior Caudate	brain
19	chr11:35287200-35289600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:35287400-35289800	Enhancers	HSMM	muscle
21	chr11:35287600-35289200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:35287600-35296200	Weak transcription	Liver	Liver
23	chr11:35287800-35293000	Weak transcription	Fetal Brain Female	brain
24	chr11:35288000-35290400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:35288000-35293000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:35288200-35295600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:35288400-35290600	Enhancers	NHLF	lung
28	chr11:35288400-35293600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:35288600-35289800	Enhancers	NH-A	brain
30	chr11:35288600-35289800	Enhancers	Osteobl	bone
31	chr11:35288600-35293600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:35288800-35289600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:35288800-35289600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:35288800-35289800	Weak transcription	Pancreas	Pancrea
35	chr11:35288800-35293600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:35288800-35297000	Weak transcription	Brain Germinal Matrix	brain
37	chr11:35289000-35289800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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