Variant report

Variant	rs1986792
Chromosome Location	chr1:209563863-209563864
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209554903..209565803-chr1:209600283..209609508,22	MCF-7	breast:
2	chr1:209562581..209564275-chr1:209570599..209572769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230937	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11811038	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12135550	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12140933	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12142844	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12142846	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12144725	0.87[AFR][1000 genomes]
rs1354851	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1857967	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55717527	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60460414	0.85[AFR][1000 genomes]
rs6667906	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6674793	0.93[AFR][1000 genomes]
rs74155478	0.85[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209553200-209568600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:209555600-209564400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:209555800-209565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:209557800-209565200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:209558000-209566200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:209558200-209564400	Enhancers	HMEC	breast
7	chr1:209558400-209564400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:209559400-209565200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:209559400-209566000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:209560800-209565000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:209560800-209565600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:209561000-209565000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:209561000-209565400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:209561000-209571400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:209561200-209564200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:209561200-209567400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:209561600-209564400	Enhancers	NHEK	skin
18	chr1:209562600-209565000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:209563000-209564200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:209563200-209565200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:209563200-209571400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:209563200-209572800	Weak transcription	Esophagus	oesophagus
23	chr1:209563400-209568000	Weak transcription	A549	lung
24	chr1:209563400-209568600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:209563400-209568600	Weak transcription	Hela-S3	cervix
26	chr1:209563400-209568600	Weak transcription	Osteobl	bone
27	chr1:209563400-209568800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:209563600-209564000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:209563600-209568600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:209563600-209568600	Weak transcription	NHLF	lung
31	chr1:209563600-209571200	Weak transcription	HSMM	muscle
32	chr1:209563600-209571400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:209563600-209571600	Weak transcription	NH-A	brain

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