Variant report

Variant	rs712069
Chromosome Location	chr1:224713980-224713981
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	chr1:224711921..224714079-chr1:224715573..224717114,2	MCF-7	breast:
2	chr1:224713950..224716544-chr1:225116543..225118635,2	K562	blood:

Variant related genes	Relation type
ENSG00000185842	Chromatin interaction
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16849633	1.00[AMR][1000 genomes]
rs2786556	1.00[AMR][1000 genomes]
rs2794803	1.00[AMR][1000 genomes]
rs2794807	1.00[AMR][1000 genomes]
rs2794809	1.00[AMR][1000 genomes]
rs2794810	1.00[AMR][1000 genomes]
rs4341336	1.00[AMR][1000 genomes]
rs712077	0.82[AFR][1000 genomes]
rs712090	1.00[AMR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS 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	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224694200-224717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224694200-224727600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:224696400-224716600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:224701800-224716600	Weak transcription	Ovary	ovary
5	chr1:224702000-224716600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:224702200-224716600	Weak transcription	Dnd41	blood
7	chr1:224709000-224714200	Enhancers	NHDF-Ad	bronchial
8	chr1:224710600-224716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:224711200-224714000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:224711200-224720400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:224711800-224716600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:224712000-224730800	Weak transcription	Spleen	Spleen
13	chr1:224712800-224716600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:224713000-224716600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:224713200-224716400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:224713200-224716600	Weak transcription	HSMMtube	muscle
17	chr1:224713400-224716400	Weak transcription	HMEC	breast
18	chr1:224713400-224716600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:224713400-224721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:224713600-224715000	Enhancers	Fetal Brain Male	brain
21	chr1:224713600-224716400	Weak transcription	HSMM	muscle
22	chr1:224713600-224716600	Weak transcription	NHEK	skin
23	chr1:224713800-224716400	Weak transcription	NHLF	lung
24	chr1:224713800-224716400	Weak transcription	Osteobl	bone
25	chr1:224713800-224716600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:224713800-224716600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:224713800-224716600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:224713800-224716600	Weak transcription	NH-A	brain
29	chr1:224713800-224716800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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