Variant report

Variant	rs11577023
Chromosome Location	chr1:222061973-222061974
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	chr1:221915372..221918031-chr1:222058617..222062321,4	MCF-7	breast:
2	chr1:222059154..222062449-chr1:222064103..222067138,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10746414	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11118883	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118890	1.00[ASN][1000 genomes]
rs11118891	1.00[ASN][1000 genomes]
rs11582814	1.00[CHB][hapmap]
rs12125690	1.00[CHB][hapmap]
rs12126771	1.00[ASN][1000 genomes]
rs12126886	1.00[ASN][1000 genomes]
rs12137702	1.00[ASN][1000 genomes]
rs12726661	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12731429	1.00[ASN][1000 genomes]
rs12738322	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748885	1.00[ASN][1000 genomes]
rs35192818	1.00[ASN][1000 genomes]
rs4129271	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56199684	1.00[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	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222048600-222073600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:222059200-222062400	Enhancers	HMEC	breast
3	chr1:222060800-222062000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:222060800-222062000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:222060800-222062200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:222060800-222064400	Weak transcription	Psoas Muscle	Psoas
7	chr1:222060800-222064400	Weak transcription	Right Atrium	heart
8	chr1:222060800-222064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:222060800-222065000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:222060800-222065400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:222060800-222070000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:222061000-222062200	Enhancers	Hela-S3	cervix
13	chr1:222061000-222064400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:222061000-222064400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:222061000-222064400	Weak transcription	Osteobl	bone
16	chr1:222061000-222064800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:222061000-222064800	Weak transcription	NHLF	lung
18	chr1:222061200-222062000	Weak transcription	Adipose Nuclei	Adipose
19	chr1:222061200-222062200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:222061200-222062800	Enhancers	Thymus	Thymus
21	chr1:222061200-222063200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:222061200-222063800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:222061200-222063800	Weak transcription	HSMM	muscle
24	chr1:222061200-222064400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:222061200-222064400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:222061200-222064400	Weak transcription	HSMMtube	muscle
27	chr1:222061200-222064400	Weak transcription	NHEK	skin
28	chr1:222061400-222062200	Enhancers	Primary B cells from peripheral blood	blood
29	chr1:222061400-222062600	Enhancers	Fetal Thymus	thymus
30	chr1:222061400-222064400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:222061400-222065200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:222061600-222062200	Weak transcription	NHDF-Ad	bronchial
33	chr1:222061600-222063400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:222061600-222064200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:222061800-222062200	Enhancers	Primary B cells from cord blood	blood

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