Variant report

Variant	rs11744848
Chromosome Location	chr5:57137499-57137500
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	chr5:57098434..57101230-chr5:57136169..57138546,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10461438	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10461639	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10487616	0.88[ASN][1000 genomes]
rs10940577	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs11740778	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12516650	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13156567	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13169816	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13175128	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13181681	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1972768	0.84[EUR][1000 genomes]
rs2898071	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34194290	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34269594	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34275130	0.83[ASN][1000 genomes]
rs34511346	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34645667	0.83[ASN][1000 genomes]
rs34962616	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35497805	0.83[ASN][1000 genomes]
rs35602156	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35694981	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4323195	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs56029970	0.83[ASN][1000 genomes]
rs66639127	0.83[ASN][1000 genomes]
rs68023515	0.83[ASN][1000 genomes]
rs72751331	0.89[AMR][1000 genomes];0.89[ASN][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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57130200-57139200	Enhancers	HMEC	breast
2	chr5:57130600-57137800	Enhancers	HSMM	muscle
3	chr5:57131200-57137800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:57131400-57140000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:57131400-57141000	Weak transcription	Left Ventricle	heart
6	chr5:57132000-57137800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:57132600-57137600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:57132800-57139000	Enhancers	NHDF-Ad	bronchial
9	chr5:57133000-57137800	Enhancers	HSMMtube	muscle
10	chr5:57133800-57137600	Weak transcription	Fetal Heart	heart
11	chr5:57135000-57137800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:57135600-57137800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:57136400-57138800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:57136800-57137600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr5:57136800-57137800	Enhancers	NH-A	brain
16	chr5:57136800-57137800	Enhancers	Osteobl	bone
17	chr5:57136800-57138000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:57136800-57138000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr5:57136800-57138200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:57136800-57138200	Enhancers	Placenta	Placenta
21	chr5:57136800-57138400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:57136800-57138800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:57136800-57138800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:57136800-57138800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:57136800-57141200	Enhancers	Fetal Muscle Leg	muscle
26	chr5:57137000-57137600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:57137000-57137600	Enhancers	Brain Germinal Matrix	brain
28	chr5:57137000-57138400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:57137000-57138400	Enhancers	Adipose Nuclei	Adipose
30	chr5:57137000-57138800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:57137000-57139000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:57137000-57139000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:57137000-57139000	Enhancers	NHLF	lung
34	chr5:57137200-57137600	Enhancers	Brain Angular Gyrus	brain
35	chr5:57137200-57137600	Enhancers	Brain Hippocampus Middle	brain
36	chr5:57137200-57137600	Enhancers	Fetal Brain Male	brain
37	chr5:57137200-57138000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:57137200-57138000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr5:57137200-57138200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:57137200-57138200	Enhancers	Fetal Lung	lung
41	chr5:57137200-57138200	Flanking Active TSS	A549	lung
42	chr5:57137200-57138400	Enhancers	Rectal Smooth Muscle	rectum
43	chr5:57137200-57138800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:57137200-57138800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:57137200-57138800	Enhancers	Fetal Kidney	kidney
46	chr5:57137200-57139000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:57137200-57139000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:57137400-57137600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr5:57137400-57137800	Enhancers	Fetal Stomach	stomach
50	chr5:57137400-57138000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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