Variant report

Variant	rs58091460
Chromosome Location	chr1:226867989-226867990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226863575..226866275-chr1:226866512..226868016,2	MCF-7	breast:
2	chr1:226861967..226864259-chr1:226866202..226868331,3	K562	blood:
3	chr1:226861295..226863983-chr1:226866100..226869363,3	K562	blood:
4	chr1:226857711..226860069-chr1:226867433..226869238,2	K562	blood:

Variant related genes	Relation type
ENSG00000228382	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12095028	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16846351	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16846357	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16846378	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754398	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754399	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754400	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754401	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754402	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754403	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754406	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754407	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754413	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3768388	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3768389	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3768397	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3768400	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3768416	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3820641	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3820647	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4653461	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4653464	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56095953	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7524854	0.93[ASN][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	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226856200-226868400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:226862400-226868400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:226864200-226871600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:226864800-226868200	Weak transcription	Aorta	Aorta
5	chr1:226865200-226868000	Weak transcription	Small Intestine	intestine
6	chr1:226865600-226878000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:226866000-226868800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr1:226866200-226870600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:226866400-226868200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr1:226866400-226874800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:226866800-226868600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr1:226866800-226874200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:226867000-226868400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr1:226867000-226868400	Weak transcription	Spleen	Spleen
15	chr1:226867000-226869200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:226867000-226871800	Weak transcription	Dnd41	blood
17	chr1:226867200-226868200	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr1:226867200-226868200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr1:226867200-226868200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr1:226867200-226868600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr1:226867200-226868800	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr1:226867400-226868000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:226867400-226868000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:226867400-226868000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:226867400-226868000	Active TSS	Fetal Brain Female	brain
26	chr1:226867400-226868000	Active TSS	Pancreas	Pancrea
27	chr1:226867400-226868000	Active TSS	Osteobl	bone
28	chr1:226867400-226868200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:226867400-226868200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr1:226867400-226868200	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr1:226867400-226868200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr1:226867400-226868200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr1:226867400-226868200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:226867400-226868200	Active TSS	Fetal Kidney	kidney
35	chr1:226867400-226868200	Active TSS	Right Ventricle	heart
36	chr1:226867400-226868400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:226867400-226868400	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr1:226867400-226868400	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr1:226867400-226868400	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr1:226867400-226868400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:226867400-226868400	Flanking Active TSS	Thymus	Thymus
42	chr1:226867400-226868600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:226867400-226868600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:226867400-226868600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:226867400-226868600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr1:226867400-226868800	Flanking Active TSS	Fetal Lung	lung
47	chr1:226867400-226868800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr1:226867400-226868800	Flanking Active TSS	GM12878-XiMat	blood
49	chr1:226867600-226868000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:226867600-226868000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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