Variant report

Variant	rs652141
Chromosome Location	chr1:228141574-228141575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227916221..227923035-chr1:228131852..228141791,18	MCF-7	breast:
2	chr1:227669292..227669934-chr1:228141333..228142021,4	K562	blood:
3	chr1:228134121..228137212-chr1:228140661..228143421,4	MCF-7	breast:
4	chr1:227946584..227948146-chr1:228139573..228141721,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081692	Chromatin interaction
ENSG00000143816	Chromatin interaction
ENSG00000143740	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11584326	0.84[EUR][1000 genomes]
rs1418422	0.85[EUR][1000 genomes]
rs1636193	0.87[EUR][1000 genomes]
rs1636194	0.88[EUR][1000 genomes]
rs1774754	0.87[EUR][1000 genomes]
rs2262292	0.83[EUR][1000 genomes]
rs2485254	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2796055	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs587000	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs601050	0.83[EUR][1000 genomes]
rs638877	0.91[EUR][1000 genomes]
rs640440	0.88[EUR][1000 genomes]
rs662658	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs680148	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs681824	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs849900	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
9	nsv873251	chr1:228051234-228160911	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv947387	chr1:228140028-228206630	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv1306097	chr1:228141573-228141577	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 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	chr1:228139400-228142000	Bivalent Enhancer	Fetal Stomach	stomach
2	chr1:228139600-228142200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr1:228139800-228142000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:228140200-228141800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr1:228140200-228142000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:228140200-228142000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr1:228140400-228141600	Weak transcription	Esophagus	oesophagus
8	chr1:228140400-228142000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr1:228141000-228141600	Enhancers	Ovary	ovary
10	chr1:228141000-228141800	Bivalent Enhancer	Placenta	Placenta
11	chr1:228141000-228141800	Enhancers	NHDF-Ad	bronchial
12	chr1:228141000-228142000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:228141000-228142000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:228141000-228142000	Enhancers	Fetal Lung	lung
15	chr1:228141000-228142000	Enhancers	HSMM	muscle
16	chr1:228141000-228142200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:228141000-228142200	Bivalent Enhancer	Osteobl	bone
18	chr1:228141200-228141800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr1:228141200-228141800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:228141200-228141800	Bivalent Enhancer	Fetal Brain Male	brain
21	chr1:228141200-228142000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:228141200-228142000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:228141200-228142000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr1:228141200-228142200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:228141400-228141600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr1:228141400-228141600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:228141400-228141600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:228141400-228141600	Weak transcription	HSMMtube	muscle
29	chr1:228141400-228141800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:228141400-228141800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:228141400-228142000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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