Variant report

Variant	rs7138299
Chromosome Location	chr12:122430647-122430648
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	JUND	chr12:122429825-122430675	SK-N-SH	brain:	n/a	chr12:122430001-122430010
2	BATF	chr12:122429875-122430688	GM12878	blood:	n/a	n/a
3	EP300	chr12:122429819-122430677	SK-N-SH	brain:	n/a	chr12:122430335-122430345 chr12:122430388-122430397
4	GATA3	chr12:122429862-122430676	SK-N-SH	brain:	n/a	n/a
5	SREBP1	chr12:122428440-122430811	GM12878	blood:	n/a	n/a
6	TCF12	chr12:122429846-122430673	SK-N-SH	brain:	n/a	chr12:122430335-122430344
7	MAX	chr12:122429893-122430776	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr12:122429733-122430703	SK-N-SH	brain:	n/a	n/a
9	EP300	chr12:122429823-122430648	SK-N-SH	brain:	n/a	chr12:122430335-122430345 chr12:122430388-122430397
10	NFIC	chr12:122429879-122430697	SK-N-SH	brain:	n/a	n/a
11	EP300	chr12:122429841-122430685	SK-N-SH	brain:	n/a	chr12:122430335-122430345 chr12:122430388-122430397
12	FOXM1	chr12:122429801-122430805	SK-N-SH	brain:	n/a	n/a
13	JUND	chr12:122429985-122430748	GM12878	blood:	n/a	chr12:122430001-122430010

No.	Distal block	Cell Line	Cell type
1	chr12:122429414..122431335-chr12:122431461..122433062,2	MCF-7	breast:
2	chr12:122427530..122430747-chr12:122431781..122435522,3	MCF-7	breast:
3	chr12:122428522..122431508-chr12:122460147..122462626,2	MCF-7	breast:

Variant related genes	Relation type
WDR66	TF binding region
ENSG00000158023	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11043275	0.95[ASN][1000 genomes]
rs12829688	0.86[ASN][1000 genomes]
rs1824949	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004863	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2004864	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2076860	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2272132	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3741581	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4522209	0.80[EUR][1000 genomes]
rs55778445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57298119	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58025403	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58026220	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58158474	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58516770	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58642707	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58651804	0.83[AFR][1000 genomes]
rs59116149	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59178789	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59695002	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60620185	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486792	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6486793	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7138556	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7294535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294829	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7303779	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7314352	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964151	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs830125	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872781	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs884785	0.84[EUR][1000 genomes]
rs884786	0.81[AMR][1000 genomes];0.84[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122396600-122439200	Weak transcription	Brain Anterior Caudate	brain
2	chr12:122415200-122434800	Weak transcription	Pancreas	Pancrea
3	chr12:122418800-122437600	Weak transcription	Spleen	Spleen
4	chr12:122422800-122442600	Weak transcription	Fetal Kidney	kidney
5	chr12:122427800-122430800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:122428200-122430800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:122428200-122430800	Enhancers	NHDF-Ad	bronchial
8	chr12:122428200-122431000	Enhancers	Fetal Thymus	thymus
9	chr12:122428200-122431000	Enhancers	HMEC	breast
10	chr12:122428400-122430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:122428400-122430800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:122428400-122430800	Enhancers	NHEK	skin
13	chr12:122428400-122431000	Enhancers	Primary B cells from peripheral blood	blood
14	chr12:122428600-122430800	Enhancers	NHLF	lung
15	chr12:122428800-122431000	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:122429200-122430800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:122429200-122431000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:122429200-122431000	Enhancers	NH-A	brain
19	chr12:122429400-122433800	Weak transcription	Fetal Lung	lung
20	chr12:122429600-122430800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:122429600-122431000	Enhancers	Primary B cells from cord blood	blood
22	chr12:122429800-122430800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:122429800-122430800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:122429800-122430800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:122429800-122430800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:122429800-122430800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:122429800-122430800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:122429800-122430800	Enhancers	Adipose Nuclei	Adipose
29	chr12:122429800-122430800	Enhancers	Thymus	Thymus
30	chr12:122429800-122430800	Enhancers	HUVEC	blood vessel
31	chr12:122429800-122431000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:122430000-122430800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr12:122430000-122430800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr12:122430000-122430800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:122430000-122430800	Enhancers	Left Ventricle	heart
36	chr12:122430200-122430800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr12:122430200-122430800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr12:122430200-122430800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:122430200-122430800	Enhancers	HSMM	muscle
40	chr12:122430200-122430800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr12:122430200-122434800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:122430400-122430800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:122430400-122430800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:122430400-122430800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:122430400-122430800	Enhancers	A549	lung
46	chr12:122430400-122430800	Enhancers	Osteobl	bone
47	chr12:122430400-122431000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:122430400-122433000	Weak transcription	HepG2	liver
49	chr12:122430400-122433800	Weak transcription	Fetal Heart	heart
50	chr12:122430400-122441000	Weak transcription	HSMMtube	muscle

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