Variant report

Variant	rs1981048
Chromosome Location	chr1:160919345-160919346
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	chr1:160696688..160697282-chr1:160919145..160920040,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10908815	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11265522	0.80[AMR][1000 genomes]
rs11265526	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11265533	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11265534	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11265535	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12126310	0.80[AMR][1000 genomes]
rs2184066	0.81[AMR][1000 genomes]
rs28368883	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34655593	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3829790	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3928803	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3928804	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4656968	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4656971	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4656972	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61802165	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6656769	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6680969	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6691389	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7526396	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs955615	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv3430322	chr1:160851829-160920480	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160905800-160919800	Weak transcription	Right Atrium	heart
2	chr1:160911800-160920800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:160915600-160919400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:160916400-160920600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:160916600-160920400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:160916600-160921800	Enhancers	Fetal Intestine Large	intestine
7	chr1:160916800-160919600	Weak transcription	HMEC	breast
8	chr1:160916800-160923800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:160917600-160921800	Enhancers	A549	lung
10	chr1:160918000-160919400	Weak transcription	Fetal Heart	heart
11	chr1:160918000-160919600	Weak transcription	NHEK	skin
12	chr1:160918000-160921400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:160918000-160923800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:160918200-160919600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:160918200-160919600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:160918200-160919800	Weak transcription	Ovary	ovary
17	chr1:160918200-160921000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:160918200-160921200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:160918200-160923800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:160918400-160919400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:160918400-160921600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:160918600-160920200	Enhancers	K562	blood
23	chr1:160918600-160920400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:160918600-160921000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:160918800-160920200	Enhancers	Hela-S3	cervix
26	chr1:160918800-160921000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:160919000-160919400	Weak transcription	Fetal Intestine Small	intestine
28	chr1:160919000-160920200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:160919000-160924000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:160919000-160924400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:160919200-160919600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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