Variant report

Variant	rs59818945
Chromosome Location	chr12:121140334-121140335
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:121140271-121141034	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr12:121139800-121140720	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:121140315-121140462	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:121140169-121140619	GM12892	blood:	n/a	n/a
5	POLR2A	chr12:121140204-121141094	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:121140198-121140716	GM12892	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121125276..121128582-chr12:121139011..121141679,3	MCF-7	breast:
2	chr12:121139055..121141788-chr12:121148232..121149870,2	MCF-7	breast:
3	chr12:121085752..121087777-chr12:121138546..121140930,2	MCF-7	breast:
4	chr12:121132775..121135777-chr12:121136647..121140338,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256364	TF binding region
ENSG00000110917	Chromatin interaction
ENSG00000175970	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1055059	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849797	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065179	1.00[ASN][1000 genomes]
rs11065201	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065207	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065222	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065226	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065253	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	1.00[ASN][1000 genomes]
rs11065258	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065267	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	1.00[ASN][1000 genomes]
rs11065281	0.83[AMR][1000 genomes]
rs11065285	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065288	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065309	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065315	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065318	1.00[ASN][1000 genomes]
rs1151854	1.00[ASN][1000 genomes]
rs1151855	1.00[ASN][1000 genomes]
rs1151860	1.00[ASN][1000 genomes]
rs1151865	1.00[ASN][1000 genomes]
rs12366451	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12368617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718207	1.00[ASN][1000 genomes]
rs497457	1.00[ASN][1000 genomes]
rs498255	1.00[ASN][1000 genomes]
rs513940	1.00[ASN][1000 genomes]
rs515784	1.00[ASN][1000 genomes]
rs519785	1.00[ASN][1000 genomes]
rs530162	1.00[ASN][1000 genomes]
rs554197	1.00[ASN][1000 genomes]
rs572009	1.00[ASN][1000 genomes]
rs574993	1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs581515	1.00[ASN][1000 genomes]
rs582678	1.00[ASN][1000 genomes]
rs590556	1.00[ASN][1000 genomes]
rs591489	1.00[ASN][1000 genomes]
rs61108232	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61414515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61624288	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627211	1.00[ASN][1000 genomes]
rs639343	1.00[ASN][1000 genomes]
rs645661	1.00[ASN][1000 genomes]
rs645786	1.00[ASN][1000 genomes]
rs647336	1.00[ASN][1000 genomes]
rs648262	1.00[ASN][1000 genomes]
rs651156	1.00[ASN][1000 genomes]
rs660878	1.00[ASN][1000 genomes]
rs671815	1.00[ASN][1000 genomes]
rs708784	1.00[ASN][1000 genomes]
rs708788	1.00[ASN][1000 genomes]
rs73409953	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411916	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413874	0.83[AMR][1000 genomes];1.00[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121127600-121147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:121130200-121143000	Strong transcription	Dnd41	blood
3	chr12:121130200-121143400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:121130600-121141800	Strong transcription	NHEK	skin
5	chr12:121130600-121142000	Strong transcription	Fetal Stomach	stomach
6	chr12:121130600-121142400	Strong transcription	GM12878-XiMat	blood
7	chr12:121130600-121143200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:121130800-121140400	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:121130800-121141600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr12:121130800-121141800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:121130800-121141800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:121130800-121141800	Strong transcription	Thymus	Thymus
13	chr12:121130800-121142000	Strong transcription	Osteobl	bone
14	chr12:121130800-121142200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:121130800-121143600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:121131000-121141200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:121131000-121141600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:121131000-121142400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:121131200-121141400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:121131200-121141800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:121131200-121141800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:121131200-121142000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:121131200-121143800	Strong transcription	Fetal Thymus	thymus
24	chr12:121131400-121141000	Strong transcription	Primary hematopoietic stem cells	blood
25	chr12:121131400-121141800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:121131400-121142200	Strong transcription	Primary T cells from cord blood	blood
27	chr12:121131600-121141200	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr12:121131600-121141800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:121131600-121141800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:121131600-121141800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:121131600-121141800	Strong transcription	Stomach Smooth Muscle	stomach
32	chr12:121131800-121140400	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr12:121131800-121140600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:121131800-121140800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:121131800-121141600	Strong transcription	Brain Angular Gyrus	brain
36	chr12:121131800-121141600	Strong transcription	Colon Smooth Muscle	Colon
37	chr12:121131800-121141800	Strong transcription	Liver	Liver
38	chr12:121131800-121141800	Strong transcription	Fetal Brain Female	brain
39	chr12:121132000-121140800	Strong transcription	Rectal Smooth Muscle	rectum
40	chr12:121132000-121140800	Strong transcription	A549	lung
41	chr12:121132000-121141000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:121132000-121141000	Strong transcription	HSMM	muscle
43	chr12:121132000-121141200	Strong transcription	NHLF	lung
44	chr12:121132000-121141800	Strong transcription	HSMMtube	muscle
45	chr12:121132200-121141200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:121132200-121143600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:121132400-121140600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:121132400-121140800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:121132400-121140800	Strong transcription	Brain Germinal Matrix	brain
50	chr12:121132400-121141200	Strong transcription	H1 Cell Line	embryonic stem cell

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