Variant report

Variant	rs761476
Chromosome Location	chr20:11353729-11353730
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	chr20:11351053..11352921-chr20:11353499..11355342,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2207123	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2327409	1.00[EUR][1000 genomes]
rs6033122	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6040536	0.84[AFR][1000 genomes]
rs6040548	0.87[AFR][1000 genomes]
rs6040559	0.86[AFR][1000 genomes]
rs6040564	0.88[AFR][1000 genomes]
rs6040570	0.88[AFR][1000 genomes]
rs6040574	0.92[AFR][1000 genomes]
rs6040580	1.00[EUR][1000 genomes]
rs6040590	1.00[EUR][1000 genomes]
rs6040595	1.00[EUR][1000 genomes]
rs6040599	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6040602	1.00[EUR][1000 genomes]
rs6040606	1.00[EUR][1000 genomes]
rs6040607	1.00[EUR][1000 genomes]
rs6074286	0.83[AFR][1000 genomes]
rs60870129	1.00[EUR][1000 genomes]
rs6108924	0.88[AFR][1000 genomes]
rs6108930	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7273061	0.85[AFR][1000 genomes]
rs7345151	1.00[EUR][1000 genomes]
rs988375	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11335000-11355400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:11345400-11360000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:11346600-11358600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr20:11346800-11360000	Weak transcription	Psoas Muscle	Psoas
5	chr20:11347800-11356000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr20:11348000-11354400	Weak transcription	HMEC	breast
7	chr20:11350000-11353800	Weak transcription	Right Atrium	heart
8	chr20:11350400-11353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:11350400-11353800	Weak transcription	Esophagus	oesophagus
10	chr20:11350400-11356600	Weak transcription	Fetal Kidney	kidney
11	chr20:11350400-11360200	Weak transcription	Pancreas	Pancrea
12	chr20:11351200-11358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:11352000-11355200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr20:11352000-11358800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr20:11352800-11358600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:11353000-11354600	Enhancers	Fetal Muscle Leg	muscle
17	chr20:11353200-11353800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr20:11353200-11354400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr20:11353200-11354600	Enhancers	Brain Germinal Matrix	brain
20	chr20:11353200-11354800	Enhancers	Fetal Brain Male	brain
21	chr20:11353400-11353800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr20:11353400-11354000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr20:11353400-11354000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr20:11353400-11354400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr20:11353400-11354400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr20:11353400-11354400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr20:11353400-11354600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr20:11353400-11354600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr20:11353400-11354600	Enhancers	HSMMtube	muscle
30	chr20:11353600-11353800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr20:11353600-11354000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr20:11353600-11354200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr20:11353600-11354200	Enhancers	Fetal Brain Female	brain
34	chr20:11353600-11354400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr20:11353600-11354400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr20:11353600-11354600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr20:11353600-11354600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr20:11353600-11354600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr20:11353600-11354600	Enhancers	Brain Angular Gyrus	brain
40	chr20:11353600-11354600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr20:11353600-11354600	Enhancers	Brain Substantia Nigra	brain
42	chr20:11353600-11354600	Enhancers	Ovary	ovary
43	chr20:11353600-11354600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr20:11353600-11354800	Enhancers	Brain Hippocampus Middle	brain
45	chr20:11353600-11359400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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