Variant report

Variant	rs12059427
Chromosome Location	chr1:147072431-147072432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:146985951..146991555-chr1:147068919..147074935,7	MCF-7	breast:
2	chr1:147011744..147014234-chr1:147070783..147073063,3	K562	blood:
3	chr1:147008733..147014706-chr1:147069097..147075030,9	MCF-7	breast:
4	chr1:147071549..147073575-chr1:147083227..147085780,2	K562	blood:

Variant related genes	Relation type
ENSG00000116128	Chromatin interaction
ENSG00000234610	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs59188898	0.90[EUR][1000 genomes]
rs73009861	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
3	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
4	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
9	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
16	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
18	nsv534063	chr1:146807433-147381411	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
19	nsv831414	chr1:146884994-147083866	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1001868	chr1:146893791-147389944	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
21	nsv482606	chr1:146959127-147134517	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
22	nsv872266	chr1:147020099-147381558	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
23	esv3395068	chr1:147070353-147073501	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	esv3360151	chr1:147070528-147073326	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147070200-147073000	Active TSS	Right Atrium	heart
2	chr1:147070200-147073200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:147070200-147073600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:147070400-147072600	Active TSS	Brain Substantia Nigra	brain
5	chr1:147070400-147072600	Active TSS	Ovary	ovary
6	chr1:147070400-147072800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:147070400-147072800	Active TSS	Aorta	Aorta
8	chr1:147070400-147073200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:147070600-147072600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:147070600-147072600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:147070600-147072600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:147070600-147072600	Active TSS	Fetal Kidney	kidney
13	chr1:147070600-147072600	Active TSS	Left Ventricle	heart
14	chr1:147070600-147072600	Active TSS	NHDF-Ad	bronchial
15	chr1:147070600-147072800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:147070600-147072800	Active TSS	NHLF	lung
17	chr1:147070600-147073000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:147070800-147072600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr1:147070800-147072600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:147070800-147072600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr1:147070800-147072600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:147070800-147072600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:147070800-147072600	Active TSS	Brain Anterior Caudate	brain
24	chr1:147070800-147072600	Active TSS	Esophagus	oesophagus
25	chr1:147070800-147073400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:147071000-147072600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:147071200-147072600	Active TSS	A549	lung
28	chr1:147071200-147072600	Active TSS	HepG2	liver
29	chr1:147071200-147072600	Active TSS	HSMMtube	muscle
30	chr1:147071200-147072800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:147071200-147072800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:147071200-147072800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:147071200-147072800	Active TSS	Colonic Mucosa	Colon
34	chr1:147071200-147072800	Active TSS	GM12878-XiMat	blood
35	chr1:147071200-147073000	Active TSS	HSMM	muscle
36	chr1:147071400-147072600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:147071400-147072600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:147071400-147073000	Active TSS	Fetal Muscle Trunk	muscle
39	chr1:147072200-147072600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
40	chr1:147072200-147072600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:147072200-147072600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:147072200-147072800	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr1:147072200-147072800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr1:147072200-147072800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:147072200-147072800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:147072200-147072800	Flanking Active TSS	Lung	lung
47	chr1:147072200-147073000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr1:147072200-147073000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr1:147072200-147073000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr1:147072200-147073000	Flanking Active TSS	Adipose Nuclei	Adipose

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