Variant report

Variant	rs74124697
Chromosome Location	chr1:161229368-161229369
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161227745..161230399-chr1:161282979..161284618,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143252	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs34887199	1.00[AMR][1000 genomes]
rs55880062	1.00[AMR][1000 genomes]
rs56758346	1.00[AMR][1000 genomes]
rs57560345	1.00[AMR][1000 genomes]
rs61642842	1.00[AMR][1000 genomes]
rs74124650	1.00[AMR][1000 genomes]
rs74124652	1.00[AMR][1000 genomes]
rs74124653	1.00[AMR][1000 genomes]
rs74124672	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124691	1.00[AMR][1000 genomes]
rs74124950	1.00[AMR][1000 genomes]
rs74127620	1.00[AMR][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	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161228200-161229400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:161228200-161229400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr1:161228200-161229400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr1:161228200-161229400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:161228200-161229400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
6	chr1:161228200-161229400	Active TSS	Brain Substantia Nigra	brain
7	chr1:161228200-161229600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr1:161228400-161229400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
9	chr1:161228400-161229400	Enhancers	Fetal Heart	heart
10	chr1:161228400-161229600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
11	chr1:161228400-161229600	Bivalent Enhancer	Placenta	Placenta
12	chr1:161228400-161229600	Active TSS	Rectal Smooth Muscle	rectum
13	chr1:161228600-161229400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
14	chr1:161228600-161229400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
15	chr1:161228600-161230200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:161228800-161229400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr1:161228800-161229400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr1:161228800-161229400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:161229000-161229400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:161229000-161229400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:161229000-161229400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr1:161229000-161229400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr1:161229000-161229400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
24	chr1:161229200-161229400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr1:161229200-161229400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr1:161229200-161229400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:161229200-161229400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:161229200-161229400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:161229200-161229400	Active TSS	Ovary	ovary
30	chr1:161229200-161229600	Enhancers	Esophagus	oesophagus
31	chr1:161229200-161229600	Bivalent/Poised TSS	Fetal Stomach	stomach
32	chr1:161229200-161229600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
33	chr1:161229200-161229800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
34	chr1:161229200-161229800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:161229200-161230200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:161229200-161230800	Weak transcription	Liver	Liver
37	chr1:161229200-161231200	Weak transcription	Lung	lung

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