Variant report

Variant	rs72751932
Chromosome Location	chr1:228887716-228887717
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	chr1:228882022..228883685-chr1:228887134..228889075,2	MCF-7	breast:
2	chr1:228887019..228889059-chr1:228906600..228908997,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12142173	1.00[ASN][1000 genomes]
rs60489173	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662185	1.00[ASN][1000 genomes]
rs72750045	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013051	chr1:228786702-228903706	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv997801	chr1:228786702-228975127	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv870365	chr1:228788356-229267904	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv998255	chr1:228791784-228919202	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv549299	chr1:228793246-229455876	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv468316	chr1:228854703-228919202	Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv549300	chr1:228854703-228919202	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr1:228877200-228889600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:228879200-228889600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:228880400-228889400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:228880600-228889400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:228880600-228889600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:228880600-228889600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:228880600-228890400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:228881000-228889200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:228881000-228889600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:228881200-228889600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:228881600-228889600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:228882800-228889200	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:228882800-228889400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:228882800-228889400	Weak transcription	Brain Substantia Nigra	brain
15	chr1:228882800-228889600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:228883000-228887800	Weak transcription	Spleen	Spleen
17	chr1:228883000-228889400	Weak transcription	Fetal Lung	lung
18	chr1:228883000-228889600	Weak transcription	Adipose Nuclei	Adipose
19	chr1:228883000-228889600	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:228883000-228893600	Weak transcription	Liver	Liver
21	chr1:228883400-228889200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:228886800-228887800	Enhancers	HepG2	liver
23	chr1:228886800-228888400	Enhancers	Placenta	Placenta
24	chr1:228887400-228891000	Weak transcription	Fetal Thymus	thymus
25	chr1:228887600-228887800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:228887600-228887800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:228887600-228888400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:228887600-228889400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr1:228887600-228889800	Enhancers	Primary monocytes fromperipheralblood	blood

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