Variant report

Variant	rs1146040
Chromosome Location	chr7:40757667-40757668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40757616..40759165-chr7:40763686..40766590,2	MCF-7	breast:
2	chr7:40756767..40759602-chr7:40763278..40766284,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10250246	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10486813	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10951638	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203725	0.89[ASN][1000 genomes]
rs1203726	0.89[ASN][1000 genomes]
rs1203727	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1203728	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203730	0.90[ASN][1000 genomes]
rs1203731	0.82[EUR][1000 genomes]
rs1203733	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203734	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235741	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17171762	0.85[ASN][1000 genomes]
rs17171763	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17171764	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1921750	0.90[ASN][1000 genomes]
rs2011636	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35428147	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4050983	0.85[ASN][1000 genomes]
rs57655172	0.88[ASN][1000 genomes]
rs62451217	0.81[ASN][1000 genomes]
rs62451219	0.85[ASN][1000 genomes]
rs6462987	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6959899	0.92[ASN][1000 genomes]
rs6965055	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6978898	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73310278	0.85[ASN][1000 genomes]
rs73310281	0.86[ASN][1000 genomes]
rs7808606	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1019833	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv538824	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv887988	chr7:40685811-40782572	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40753800-40758200	Enhancers	Osteobl	bone
2	chr7:40754000-40757800	Enhancers	HSMM	muscle
3	chr7:40754000-40758200	Enhancers	NHDF-Ad	bronchial
4	chr7:40755400-40757800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:40755400-40758000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:40755400-40758200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:40755800-40758600	Weak transcription	Aorta	Aorta
8	chr7:40755800-40759800	Weak transcription	NH-A	brain
9	chr7:40755800-40760200	Weak transcription	Fetal Heart	heart
10	chr7:40756000-40759600	Weak transcription	Liver	Liver
11	chr7:40756400-40758200	Enhancers	Dnd41	blood
12	chr7:40757000-40758200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:40757000-40758400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:40757000-40760800	Weak transcription	Fetal Lung	lung
15	chr7:40757000-40764000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:40757200-40758800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:40757200-40759600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:40757200-40760600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:40757400-40758400	Weak transcription	Adipose Nuclei	Adipose
20	chr7:40757400-40758600	Weak transcription	HMEC	breast
21	chr7:40757400-40759200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:40757400-40759600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:40757400-40759600	Weak transcription	NHEK	skin
24	chr7:40757400-40759800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:40757400-40759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:40757400-40759800	Weak transcription	HSMMtube	muscle
27	chr7:40757400-40760000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:40757400-40760600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:40757400-40760600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:40757400-40760600	Weak transcription	NHLF	lung
31	chr7:40757400-40760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:40757400-40761200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:40757400-40761800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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