Variant report

Variant	rs460977
Chromosome Location	chr5:81073531-81073532
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	chr5:81068024..81069829-chr5:81070706..81073662,2	MCF-7	breast:
2	chr5:81073239..81075996-chr5:81079626..81082317,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs465059	0.85[EUR][1000 genomes]
rs7709153	1.00[CHD][hapmap]
rs7728918	1.00[CHD][hapmap]

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	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv869102	chr5:81052386-81494502	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs460977	RPS23	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81065200-81083800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:81065600-81074200	Weak transcription	HMEC	breast
3	chr5:81065600-81074200	Weak transcription	NHLF	lung
4	chr5:81069000-81075800	Weak transcription	Left Ventricle	heart
5	chr5:81069400-81074200	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:81069600-81074000	Weak transcription	Adipose Nuclei	Adipose
7	chr5:81069800-81074200	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:81070000-81074200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:81070000-81074200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:81070200-81074400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:81070400-81074200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:81070800-81073800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:81070800-81073800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:81070800-81074000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:81070800-81074000	Weak transcription	Osteobl	bone
16	chr5:81070800-81074400	Weak transcription	NHDF-Ad	bronchial
17	chr5:81071000-81074200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:81071000-81074400	Weak transcription	Fetal Kidney	kidney
19	chr5:81071000-81075400	Weak transcription	Spleen	Spleen
20	chr5:81071200-81074200	Weak transcription	Right Atrium	heart
21	chr5:81071200-81075400	Weak transcription	Lung	lung
22	chr5:81071400-81074400	Weak transcription	Fetal Stomach	stomach
23	chr5:81071400-81074600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:81072000-81073600	Enhancers	K562	blood
25	chr5:81072200-81074400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:81072400-81074200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:81072400-81083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:81072600-81074200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:81072600-81074200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:81072600-81074200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:81072600-81074200	Weak transcription	Psoas Muscle	Psoas
32	chr5:81072600-81074200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr5:81072600-81074200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:81072600-81074400	Weak transcription	NHEK	skin
35	chr5:81072600-81075000	Weak transcription	Hela-S3	cervix
36	chr5:81072600-81075200	Weak transcription	Aorta	Aorta
37	chr5:81072800-81074200	Weak transcription	Stomach Mucosa	stomach
38	chr5:81072800-81074400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:81073000-81074200	Weak transcription	Fetal Thymus	thymus
40	chr5:81073000-81074400	Enhancers	Dnd41	blood

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