Variant report

Variant	rs11033053
Chromosome Location	chr11:35310565-35310566
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	FOSL2	chr11:35310540-35311148	SK-N-SH	brain:	n/a	chr11:35310909-35310916
2	GATA3	chr11:35310507-35311291	SK-N-SH	brain:	n/a	chr11:35310910-35310919
3	EP300	chr11:35310554-35311741	SK-N-SH	brain:	n/a	chr11:35310852-35310866
4	MAFK	chr11:35310389-35310935	IMR90	lung:	n/a	chr11:35310540-35310556
5	MAFK	chr11:35310378-35310727	HepG2	liver:	n/a	chr11:35310540-35310556
6	POLR2A	chr11:35310480-35311119	U87	brain:	n/a	n/a
7	TEAD4	chr11:35310470-35311913	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr11:35310495-35312076	SK-N-SH	brain:	n/a	n/a
9	JUND	chr11:35310499-35311913	SK-N-SH	brain:	n/a	chr11:35310909-35310916
10	EP300	chr11:35310457-35311959	SK-N-SH	brain:	n/a	chr11:35310852-35310866
11	MAFK	chr11:35310480-35310685	K562	blood:	n/a	chr11:35310540-35310556
12	PBX3	chr11:35310458-35311165	SK-N-SH	brain:	n/a	n/a
13	JUND	chr11:35310485-35311206	SK-N-SH	brain:	n/a	chr11:35310909-35310916
14	MAFF	chr11:35310394-35310728	HepG2	liver:	n/a	chr11:35310538-35310556
15	JUND	chr11:35310562-35311268	SK-N-SH	brain:	n/a	chr11:35310909-35310916
16	MAFK	chr11:35310411-35310724	HepG2	liver:	n/a	chr11:35310540-35310556
17	MAFF	chr11:35310500-35310686	K562	blood:	n/a	chr11:35310538-35310556
18	FOXM1	chr11:35310427-35311424	SK-N-SH	brain:	n/a	n/a
19	MAFK	chr11:35310512-35310685	Hela-S3	cervix:	n/a	chr11:35310540-35310556
20	TCF12	chr11:35310415-35312092	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35310052..35313543-chr11:35317974..35319677,3	MCF-7	breast:
2	chr11:35295688..35300934-chr11:35309144..35319083,18	MCF-7	breast:

Variant related genes	Relation type
SLC1A2	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1042113	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10444271	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10488816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10488817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10488818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10836366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10836368	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033050	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11033054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11033055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11033056	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033057	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11033058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11033060	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11033063	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033064	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12146523	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12418812	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12576364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12576375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16927292	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236272	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3794087	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3794088	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3794093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3794094	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3794097	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3829266	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3891872	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3895234	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41352148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41525047	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756207	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56043665	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56140126	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56402269	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61880962	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61882290	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61882291	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61882292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61882293	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7111043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7111055	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7111179	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7129693	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72638196	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72638197	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs752949	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7927975	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7940391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35298000-35317200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:35298200-35326000	Weak transcription	Brain Substantia Nigra	brain
3	chr11:35299000-35326600	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:35299800-35328600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:35302400-35327000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:35302600-35329000	Weak transcription	Brain Angular Gyrus	brain
7	chr11:35304000-35324800	Weak transcription	Liver	Liver
8	chr11:35304200-35310600	Weak transcription	Left Ventricle	heart
9	chr11:35304600-35314200	Weak transcription	Stomach Mucosa	stomach
10	chr11:35304600-35317000	Weak transcription	Pancreas	Pancrea
11	chr11:35304600-35326600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:35308000-35324000	Weak transcription	HepG2	liver
13	chr11:35308200-35311800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:35308200-35312000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:35308400-35313600	Weak transcription	Fetal Brain Male	brain
16	chr11:35308600-35325800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:35308600-35326400	Weak transcription	Brain Anterior Caudate	brain
18	chr11:35308800-35313000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:35309000-35312800	Enhancers	NHDF-Ad	bronchial
20	chr11:35309400-35312600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:35309400-35312600	Enhancers	HSMMtube	muscle
22	chr11:35309600-35312600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:35309600-35312600	Enhancers	HSMM	muscle
24	chr11:35309600-35312800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr11:35309800-35310600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:35309800-35310600	Enhancers	Osteobl	bone
27	chr11:35309800-35311000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
28	chr11:35309800-35312000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:35309800-35312000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:35309800-35312600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:35309800-35312600	Enhancers	NHLF	lung
32	chr11:35309800-35318400	Weak transcription	Fetal Brain Female	brain
33	chr11:35310000-35310600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:35310000-35310800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:35310000-35311800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr11:35310000-35312600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:35310000-35312800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:35310000-35325800	Weak transcription	Brain Germinal Matrix	brain
39	chr11:35310200-35313000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:35310200-35313600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:35310400-35310600	Enhancers	NH-A	brain
42	chr11:35310400-35311800	Enhancers	Primary hematopoietic stem cells	blood
43	chr11:35310400-35311800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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