Variant report

Variant	rs6450442
Chromosome Location	chr5:57137773-57137774
allele	A/C
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: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10057880	1.00[YRI][hapmap]
rs10072292	1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1347071	0.89[JPT][hapmap];1.00[YRI][hapmap]
rs1821210	1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1861059	0.89[JPT][hapmap];1.00[YRI][hapmap]
rs2408854	0.95[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2568537	0.89[JPT][hapmap];1.00[YRI][hapmap]
rs4235475	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4235476	0.95[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4285175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4317282	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4380607	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4403130	0.95[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4421067	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4458541	0.95[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4513644	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4699913	1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4700231	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4700233	1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6450444	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6896848	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs702699	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs702701	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7701200	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7724301	0.81[CEU][hapmap]
rs854035	0.87[AMR][1000 genomes]
rs854036	0.85[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs854038	0.82[AMR][1000 genomes]
rs854039	0.81[AMR][1000 genomes]
rs854042	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs854045	0.81[AMR][1000 genomes]
rs854046	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs854048	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs854049	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs854050	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs854052	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs854053	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs868049	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs897264	0.97[AMR][1000 genomes];0.95[EUR][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:69 , 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	chr5:57132800-57139000	Enhancers	NHDF-Ad	bronchial
8	chr5:57133000-57137800	Enhancers	HSMMtube	muscle
9	chr5:57135000-57137800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:57135600-57137800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:57136400-57138800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:57136800-57137800	Enhancers	NH-A	brain
13	chr5:57136800-57137800	Enhancers	Osteobl	bone
14	chr5:57136800-57138000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:57136800-57138000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr5:57136800-57138200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:57136800-57138200	Enhancers	Placenta	Placenta
18	chr5:57136800-57138400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:57136800-57138800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:57136800-57138800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:57136800-57138800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:57136800-57141200	Enhancers	Fetal Muscle Leg	muscle
23	chr5:57137000-57138400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:57137000-57138400	Enhancers	Adipose Nuclei	Adipose
25	chr5:57137000-57138800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:57137000-57139000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:57137000-57139000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:57137000-57139000	Enhancers	NHLF	lung
29	chr5:57137200-57138000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:57137200-57138000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr5:57137200-57138200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:57137200-57138200	Enhancers	Fetal Lung	lung
33	chr5:57137200-57138200	Flanking Active TSS	A549	lung
34	chr5:57137200-57138400	Enhancers	Rectal Smooth Muscle	rectum
35	chr5:57137200-57138800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:57137200-57138800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:57137200-57138800	Enhancers	Fetal Kidney	kidney
38	chr5:57137200-57139000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:57137200-57139000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:57137400-57137800	Enhancers	Fetal Stomach	stomach
41	chr5:57137400-57138000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr5:57137400-57138000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:57137400-57138000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:57137400-57138000	Enhancers	Brain Cingulate Gyrus	brain
45	chr5:57137400-57138000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr5:57137400-57138000	Enhancers	Fetal Brain Female	brain
47	chr5:57137400-57138000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr5:57137400-57138200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr5:57137400-57138200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:57137400-57138200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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