Variant report

Variant	rs1047080
Chromosome Location	chr1:247004031-247004032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246991725..246994648-chr1:247001780..247004599,2	K562	blood:
2	chr1:247001934..247004833-chr1:247007258..247009999,3	K562	blood:
3	chr1:246999464..247001183-chr1:247004017..247007456,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223519	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10924851	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119588	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121733	0.93[EUR][1000 genomes]
rs12126508	1.00[ASN][1000 genomes]
rs12127681	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127941	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134528	0.80[EUR][1000 genomes]
rs1316358	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28665436	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41304040	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41308162	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4353136	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426183	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685596	0.81[EUR][1000 genomes]
rs74152748	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74152750	0.83[EUR][1000 genomes]
rs7520969	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7549408	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	52 gene(s)	inside rSNPs	diseases
6	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
7	esv1810844	chr1:246988018-247054824	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv945432	chr1:247002867-247004177	Weak transcription Strong transcription Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246989200-247011200	Weak transcription	Fetal Kidney	kidney
2	chr1:246993200-247004200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:246995400-247004200	Weak transcription	HUVEC	blood vessel
4	chr1:246998800-247004200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:246999200-247004600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:246999200-247010000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:246999400-247004200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:246999600-247004400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:246999600-247004600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:246999800-247004400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:246999800-247004400	Weak transcription	Hela-S3	cervix
12	chr1:246999800-247005600	Weak transcription	Ovary	ovary
13	chr1:246999800-247007600	Weak transcription	Right Ventricle	heart
14	chr1:247000200-247004200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:247000200-247004200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:247000200-247004400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:247000200-247004400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:247000200-247020200	Weak transcription	Spleen	Spleen
19	chr1:247000600-247004200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:247000600-247004600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:247000600-247007800	Weak transcription	Fetal Brain Female	brain
22	chr1:247000800-247004400	Weak transcription	Left Ventricle	heart
23	chr1:247000800-247004600	Weak transcription	Primary B cells from cord blood	blood
24	chr1:247001000-247004200	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:247001000-247006200	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:247001200-247004200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:247001200-247004400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:247001400-247004200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:247001400-247004200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:247001400-247004200	Weak transcription	NHDF-Ad	bronchial
31	chr1:247001400-247004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:247001400-247004400	Weak transcription	Brain Angular Gyrus	brain
33	chr1:247001400-247012000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:247001400-247016400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:247001400-247020000	Weak transcription	Brain Substantia Nigra	brain
36	chr1:247001600-247004200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:247001600-247004200	Weak transcription	A549	lung
38	chr1:247001600-247004400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:247001600-247004400	Weak transcription	GM12878-XiMat	blood
40	chr1:247001600-247004400	Weak transcription	HMEC	breast
41	chr1:247001600-247004400	Weak transcription	K562	blood
42	chr1:247001800-247004200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:247001800-247004400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:247001800-247004400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:247002000-247004200	Weak transcription	NH-A	brain
46	chr1:247002000-247004600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:247002000-247038200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:247002200-247031400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:247002200-247033800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:247002200-247034200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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