Variant report

Variant	rs6682092
Chromosome Location	chr1:221061580-221061581
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	chr1:221059069..221061749-chr1:221063321..221065597,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1537804	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1537805	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17009074	0.80[AMR][1000 genomes]
rs2184658	0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs2784250	1.00[ASN][1000 genomes]
rs2807862	1.00[ASN][1000 genomes]
rs3738182	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs4846672	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58040980	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60458871	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60757003	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73102740	1.00[AMR][1000 genomes]
rs73108360	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs949994	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs950635	1.00[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221057000-221061800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:221060000-221063600	Weak transcription	NHLF	lung
3	chr1:221060200-221062000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:221060200-221062200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr1:221060400-221061800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:221060600-221061800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:221060800-221061600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:221060800-221061600	Active TSS	Right Atrium	heart
9	chr1:221060800-221061800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:221060800-221062200	Bivalent Enhancer	HMEC	breast
11	chr1:221061000-221061600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:221061000-221061600	Active TSS	Aorta	Aorta
13	chr1:221061000-221061600	Enhancers	Ovary	ovary
14	chr1:221061000-221061800	Bivalent Enhancer	Fetal Thymus	thymus
15	chr1:221061200-221061600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
16	chr1:221061200-221061600	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr1:221061200-221061600	Active TSS	Right Ventricle	heart
18	chr1:221061200-221061600	Bivalent/Poised TSS	NHDF-Ad	bronchial
19	chr1:221061200-221061800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr1:221061200-221061800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
21	chr1:221061200-221061800	Bivalent Enhancer	Fetal Brain Male	brain
22	chr1:221061200-221061800	Bivalent Enhancer	Placenta	Placenta
23	chr1:221061200-221062000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:221061200-221062000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:221061200-221062000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:221061200-221062200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr1:221061200-221062400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:221061200-221064600	Weak transcription	Spleen	Spleen
29	chr1:221061400-221061600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:221061400-221061600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
31	chr1:221061400-221061600	Active TSS	Colon Smooth Muscle	Colon
32	chr1:221061400-221061800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr1:221061400-221061800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:221061400-221061800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:221061400-221061800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
36	chr1:221061400-221061800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:221061400-221061800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr1:221061400-221061800	Bivalent Enhancer	Adipose Nuclei	Adipose
39	chr1:221061400-221061800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:221061400-221061800	Bivalent Enhancer	Brain Substantia Nigra	brain
41	chr1:221061400-221061800	Bivalent Enhancer	Fetal Heart	heart
42	chr1:221061400-221061800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr1:221061400-221061800	Enhancers	Pancreas	Pancrea
44	chr1:221061400-221061800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr1:221061400-221062000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:221061400-221062000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
47	chr1:221061400-221062000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr1:221061400-221062000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:221061400-221062000	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr1:221061400-221062200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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