Variant report

Variant	rs7707546
Chromosome Location	chr5:112485448-112485449
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	chr5:112485402..112488072-chr5:112495550..112498480,2	K562	blood:
2	chr5:112482887..112485655-chr5:112487737..112490349,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10068491	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10463646	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13168126	0.85[ASN][1000 genomes]
rs13190040	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1562016	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1947026	0.85[EUR][1000 genomes]
rs2044238	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2044239	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2165930	0.81[AMR][1000 genomes]
rs2165931	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2416303	0.83[EUR][1000 genomes]
rs2416305	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2416306	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705794	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705797	0.81[AMR][1000 genomes]
rs7720549	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7720866	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs935159	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
3	chr5:112477400-112486600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:112477400-112486600	Weak transcription	Right Atrium	heart
5	chr5:112477400-112489200	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
7	chr5:112478000-112485600	Weak transcription	Pancreas	Pancrea
8	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:112479200-112490000	Weak transcription	Aorta	Aorta
10	chr5:112479400-112489600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:112479800-112485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:112480400-112487200	Weak transcription	Right Ventricle	heart
13	chr5:112481400-112496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:112481800-112486400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:112481800-112487800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:112482600-112491400	Weak transcription	Adipose Nuclei	Adipose
17	chr5:112483000-112496800	Weak transcription	HMEC	breast
18	chr5:112483200-112495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:112483400-112488800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:112483400-112489200	Weak transcription	NHLF	lung
21	chr5:112483400-112490000	Weak transcription	Left Ventricle	heart
22	chr5:112483400-112491800	Weak transcription	NHEK	skin
23	chr5:112483400-112494600	Weak transcription	Psoas Muscle	Psoas
24	chr5:112483600-112485600	Weak transcription	Osteobl	bone
25	chr5:112483600-112486400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:112483600-112486600	Weak transcription	Gastric	stomach
27	chr5:112483600-112488800	Weak transcription	NHDF-Ad	bronchial
28	chr5:112483600-112489200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:112483800-112485600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:112484000-112487000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:112484200-112491800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:112484200-112495600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:112484400-112485800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:112484400-112485800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:112484400-112485800	Weak transcription	Fetal Heart	heart
36	chr5:112485200-112487000	Strong transcription	Liver	Liver
37	chr5:112485200-112488200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:112485400-112485600	Genic enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:112485400-112485600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:112485400-112485800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:112485400-112485800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:112485400-112485800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:112485400-112486000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:112485400-112486000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:112485400-112486000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:112485400-112486800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:112485400-112487200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr5:112485400-112490400	Enhancers	Ovary	ovary

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