Variant report

Variant	rs2286022
Chromosome Location	chr12:48436647-48436648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48416842..48418454-chr12:48435864..48437741,2	MCF-7	breast:
2	chr12:48428906..48431676-chr12:48435313..48438563,3	MCF-7	breast:
3	chr12:48435313..48437988-chr12:48451982..48454529,2	K562	blood:
4	chr12:48436420..48437194-chr20:9448364..9449175,2	MCF-7	breast:
5	chr12:48433439..48436867-chr12:48436934..48440362,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1018973	0.81[YRI][hapmap];0.93[EUR][1000 genomes]
rs10492080	0.82[YRI][hapmap]
rs10783226	0.81[EUR][1000 genomes]
rs10783227	0.85[EUR][1000 genomes]
rs11612578	0.90[EUR][1000 genomes]
rs11612970	0.85[EUR][1000 genomes]
rs11613485	0.82[YRI][hapmap];0.85[EUR][1000 genomes]
rs12580764	0.87[EUR][1000 genomes]
rs12581972	0.82[EUR][1000 genomes]
rs1476608	0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs17122611	0.87[EUR][1000 genomes]
rs17122612	0.81[YRI][hapmap];0.87[EUR][1000 genomes]
rs17122613	0.86[EUR][1000 genomes]
rs17122651	0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs1859441	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1859444	0.84[EUR][1000 genomes]
rs1968071	0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs1990029	0.89[EUR][1000 genomes]
rs3742074	0.82[YRI][hapmap];0.87[EUR][1000 genomes]
rs3803183	0.85[EUR][1000 genomes]
rs3803184	0.85[EUR][1000 genomes]
rs3825404	0.85[EUR][1000 genomes]
rs4293182	0.85[EUR][1000 genomes]
rs4589362	0.84[EUR][1000 genomes]
rs4760611	0.91[EUR][1000 genomes]
rs4760614	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4760615	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4760616	0.94[ASN][1000 genomes]
rs4760617	0.94[ASN][1000 genomes]
rs4760618	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4760677	0.93[EUR][1000 genomes]
rs57054831	0.84[EUR][1000 genomes]
rs57380031	0.86[EUR][1000 genomes]
rs58046797	0.84[EUR][1000 genomes]
rs59766465	0.87[EUR][1000 genomes]
rs60567660	0.84[EUR][1000 genomes]
rs60629297	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs60681522	0.87[EUR][1000 genomes]
rs6580647	0.90[EUR][1000 genomes]
rs6580649	0.82[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6580651	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7132668	0.88[EUR][1000 genomes]
rs7133249	0.87[EUR][1000 genomes]
rs726354	0.82[YRI][hapmap]
rs72644841	0.90[EUR][1000 genomes]
rs72644842	0.93[EUR][1000 genomes]
rs72644843	0.87[EUR][1000 genomes]
rs72644844	0.87[EUR][1000 genomes]
rs7296913	0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs7305954	0.89[EUR][1000 genomes]
rs7310579	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7312326	0.84[EUR][1000 genomes]
rs7957764	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7959755	0.93[EUR][1000 genomes]
rs7963934	0.84[EUR][1000 genomes]
rs7967762	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971668	0.87[EUR][1000 genomes]
rs9651993	0.89[EUR][1000 genomes]
rs9805048	0.89[EUR][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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2286022	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48422800-48438800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:48424800-48437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:48429200-48437000	Weak transcription	GM12878-XiMat	blood
4	chr12:48431400-48438200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:48431400-48438400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:48431600-48437800	Weak transcription	Brain Germinal Matrix	brain
7	chr12:48431800-48437000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:48431800-48437000	Weak transcription	Liver	Liver
9	chr12:48431800-48437600	Weak transcription	Adipose Nuclei	Adipose
10	chr12:48431800-48438200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:48431800-48438200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:48431800-48438200	Weak transcription	Fetal Stomach	stomach
13	chr12:48431800-48438200	Weak transcription	Lung	lung
14	chr12:48431800-48438200	Weak transcription	Pancreas	Pancrea
15	chr12:48431800-48438400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:48431800-48438400	Weak transcription	K562	blood
17	chr12:48431800-48438800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:48431800-48456600	Weak transcription	NHLF	lung
19	chr12:48432000-48436800	Weak transcription	NH-A	brain
20	chr12:48432000-48437000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:48432000-48438200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:48432000-48438200	Weak transcription	Right Ventricle	heart
23	chr12:48432000-48438200	Weak transcription	Spleen	Spleen
24	chr12:48432000-48438400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:48432000-48438400	Weak transcription	Fetal Kidney	kidney
26	chr12:48432000-48438400	Weak transcription	Ovary	ovary
27	chr12:48432000-48438800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:48432000-48438800	Weak transcription	NHDF-Ad	bronchial
29	chr12:48432000-48439800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:48432000-48439800	Weak transcription	Fetal Heart	heart
31	chr12:48432000-48463400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:48432200-48436800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:48432200-48437000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:48432200-48438200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:48432200-48438200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:48432200-48438400	Weak transcription	HepG2	liver
37	chr12:48432200-48438400	Weak transcription	HSMMtube	muscle
38	chr12:48432200-48438600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:48432200-48498400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:48432400-48436800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:48432400-48438200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:48433000-48438200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:48433200-48437000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:48433200-48437400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:48433200-48438200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:48433200-48438600	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:48433400-48438200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:48433400-48438800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:48433600-48436800	Weak transcription	NHEK	skin
50	chr12:48433800-48437000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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