Variant report

Variant	rs12064020
Chromosome Location	chr1:151872304-151872305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151871030..151873827-chr1:151880449..151882016,2	K562	blood:
2	chr1:151861522..151872673-chr1:151876647..151885029,20	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159445	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12067912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16828432	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833610	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1826173	1.00[AMR][1000 genomes]
rs2337687	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6587639	0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6663064	0.80[YRI][hapmap]
rs6671719	1.00[AMR][1000 genomes]
rs6684312	0.89[YRI][hapmap]
rs6686874	0.80[YRI][hapmap]
rs7532162	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs7533854	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7548044	0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151831000-151881400	Weak transcription	Ovary	ovary
2	chr1:151841200-151880800	Weak transcription	NHLF	lung
3	chr1:151844400-151881200	Weak transcription	Aorta	Aorta
4	chr1:151844800-151877600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:151854000-151880200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:151857000-151873000	Weak transcription	GM12878-XiMat	blood
7	chr1:151857600-151873400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:151857600-151874200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:151860600-151877600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:151860800-151879800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:151861600-151879800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:151862400-151880400	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:151864000-151873000	Weak transcription	Fetal Heart	heart
14	chr1:151864800-151881400	Weak transcription	Brain Substantia Nigra	brain
15	chr1:151866200-151879600	Weak transcription	NHDF-Ad	bronchial
16	chr1:151866200-151880200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:151866400-151874400	Weak transcription	Fetal Lung	lung
18	chr1:151866600-151879800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:151867200-151872800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:151867200-151879600	Weak transcription	Fetal Stomach	stomach
21	chr1:151867400-151877600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:151867400-151877600	Weak transcription	Osteobl	bone
23	chr1:151867400-151878600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:151867600-151877200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:151867600-151877600	Weak transcription	NH-A	brain
26	chr1:151868000-151879800	Weak transcription	Liver	Liver
27	chr1:151868000-151880200	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:151868000-151880400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:151868000-151880800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:151868600-151872600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:151870600-151872400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:151871200-151875200	Weak transcription	Pancreas	Pancrea
33	chr1:151871200-151876400	Weak transcription	Psoas Muscle	Psoas
34	chr1:151871400-151872600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr1:151871400-151873000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr1:151871400-151874600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:151871400-151877600	Weak transcription	HMEC	breast
38	chr1:151871400-151878800	Weak transcription	Lung	lung
39	chr1:151871400-151878800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:151871400-151879800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:151871400-151880400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:151871600-151872400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:151871600-151872400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:151871600-151872400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:151871600-151872600	Enhancers	Primary T cells from cord blood	blood
46	chr1:151871600-151872600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr1:151871600-151872600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:151871600-151872600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:151871600-151876200	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr1:151871600-151877000	Enhancers	Primary T helper cells PMA-I stimulated	--

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