Variant report

Variant	rs6697726
Chromosome Location	chr1:62696653-62696654
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	chr1:62644591..62647445-chr1:62694346..62697285,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2886600	1.00[AMR][1000 genomes]
rs57413303	1.00[AMR][1000 genomes]
rs57469611	1.00[AMR][1000 genomes]
rs58323492	1.00[AMR][1000 genomes]
rs59107355	1.00[AMR][1000 genomes]
rs60767478	1.00[AMR][1000 genomes]
rs6656988	0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6657288	0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673857	1.00[AMR][1000 genomes]
rs6702709	0.82[AFR][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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62692200-62697400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:62693400-62697400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr1:62693600-62700800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:62693600-62700800	Enhancers	Placenta	Placenta
5	chr1:62694400-62699400	Enhancers	HMEC	breast
6	chr1:62694600-62697600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:62694800-62697200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:62694800-62697600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:62694800-62697800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:62694800-62697800	Enhancers	NHEK	skin
11	chr1:62694800-62698600	Weak transcription	Fetal Lung	lung
12	chr1:62695000-62696800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:62695000-62697400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:62695000-62697400	Enhancers	HSMM	muscle
15	chr1:62695000-62697800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:62695400-62697000	Genic enhancers	H9 Cell Line	embryonic stem cell
17	chr1:62695600-62697400	Enhancers	HSMMtube	muscle
18	chr1:62695600-62697400	Enhancers	NH-A	brain
19	chr1:62695800-62697200	Enhancers	HepG2	liver
20	chr1:62695800-62699000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:62695800-62703400	Weak transcription	Adipose Nuclei	Adipose
22	chr1:62696000-62697400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:62696000-62697400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:62696000-62698000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:62696000-62700000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:62696000-62700200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:62696200-62697000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:62696200-62697000	Flanking Active TSS	Hela-S3	cervix
29	chr1:62696200-62697200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:62696200-62697200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:62696400-62697000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:62696400-62697000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:62696400-62697200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:62696400-62697200	Enhancers	A549	lung
35	chr1:62696400-62697600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:62696600-62696800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:62696600-62696800	Enhancers	Fetal Muscle Leg	muscle
38	chr1:62696600-62697000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr1:62696600-62697000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:62696600-62697000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:62696600-62697200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:62696600-62697600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:62696600-62703600	Weak transcription	Fetal Stomach	stomach

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