Variant report

Variant	rs17023317
Chromosome Location	chr1:119765419-119765420
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr1:119764857-119765592	GM12878	blood:	n/a	chr1:119765133-119765144 chr1:119765134-119765144

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:119764022..119765816-chr1:119766092..119768629,2	MCF-7	breast:
2	chr1:119681835..119683536-chr1:119763615..119766059,2	K562	blood:

Variant related genes	Relation type
RPL6P2	TF binding region
ENSG00000116874	Chromatin interaction
ENSG00000231365	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17023092	1.00[AMR][1000 genomes]
rs17023108	1.00[AMR][1000 genomes]
rs17023118	1.00[AMR][1000 genomes]
rs17023129	1.00[AMR][1000 genomes]
rs17023211	1.00[AMR][1000 genomes]
rs17023323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56083438	1.00[AMR][1000 genomes]
rs57667302	1.00[AMR][1000 genomes]
rs60375409	1.00[AMR][1000 genomes]
rs74112264	1.00[AMR][1000 genomes]
rs74112272	1.00[AMR][1000 genomes]
rs74112284	1.00[AMR][1000 genomes]
rs74112509	1.00[AMR][1000 genomes]
rs74112511	1.00[AMR][1000 genomes]
rs74112512	1.00[AMR][1000 genomes]
rs74114807	1.00[AMR][1000 genomes]
rs74114819	1.00[AMR][1000 genomes]
rs74114822	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv831192	chr1:119671172-119843226	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119722000-119784400	Weak transcription	Left Ventricle	heart
2	chr1:119722200-119768200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:119732800-119771000	Weak transcription	Hela-S3	cervix
4	chr1:119739000-119777000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:119739200-119766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:119740600-119785200	Weak transcription	Ovary	ovary
7	chr1:119743000-119768200	Weak transcription	Fetal Stomach	stomach
8	chr1:119743400-119768000	Weak transcription	Fetal Lung	lung
9	chr1:119744600-119785000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:119749400-119783600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:119753200-119768600	Weak transcription	Adipose Nuclei	Adipose
12	chr1:119754000-119769400	Weak transcription	Fetal Intestine Small	intestine
13	chr1:119754000-119769600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:119754000-119771400	Weak transcription	Fetal Intestine Large	intestine
15	chr1:119754000-119779400	Weak transcription	Gastric	stomach
16	chr1:119760200-119792200	Weak transcription	Spleen	Spleen
17	chr1:119760800-119779200	Weak transcription	Primary T cells from cord blood	blood
18	chr1:119761000-119770000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:119762400-119775600	Weak transcription	Aorta	Aorta
20	chr1:119762400-119781000	Weak transcription	Pancreas	Pancrea
21	chr1:119762800-119769600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:119763800-119769600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:119764200-119768000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:119764200-119768200	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:119764400-119767800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:119764400-119768000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:119764600-119768800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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