Variant report

Variant	rs2807860
Chromosome Location	chr1:221061254-221061255
allele	C/T
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: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2050525	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2738749	0.81[AFR][1000 genomes]
rs2738750	0.85[AFR][1000 genomes]
rs2784251	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2784253	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2784255	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2784271	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2784272	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2784274	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2807859	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2807863	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2807864	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2807865	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2807867	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs867027	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs868058	0.81[AFR][1000 genomes]
rs945448	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs949839	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs949840	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[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:81 , 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	chr1:221060400-221061400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:221060400-221061400	Enhancers	Liver	Liver
7	chr1:221060400-221061800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:221060600-221061400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:221060600-221061400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:221060600-221061400	Bivalent Enhancer	Fetal Stomach	stomach
11	chr1:221060600-221061400	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr1:221060600-221061400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr1:221060600-221061800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:221060800-221061400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
15	chr1:221060800-221061400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:221060800-221061400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:221060800-221061400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
18	chr1:221060800-221061400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
19	chr1:221060800-221061400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr1:221060800-221061400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
21	chr1:221060800-221061400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
22	chr1:221060800-221061600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:221060800-221061600	Active TSS	Right Atrium	heart
24	chr1:221060800-221061800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:221060800-221062200	Bivalent Enhancer	HMEC	breast
26	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:221061000-221061400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
33	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
34	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
35	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
36	chr1:221061000-221061400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:221061000-221061400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
40	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
41	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
43	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	Fetal Heart	heart
44	chr1:221061000-221061400	Flanking Active TSS	Pancreas	Pancrea
45	chr1:221061000-221061400	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
47	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
48	chr1:221061000-221061400	Flanking Bivalent TSS/Enh	NH-A	brain
49	chr1:221061000-221061400	Flanking Active TSS	Osteobl	bone
50	chr1:221061000-221061600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain

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