Variant report

Variant	rs735751
Chromosome Location	chr6:163776851-163776852
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	chr6:163757896..163760585-chr6:163774528..163776997,2	MCF-7	breast:
2	chr6:163772638..163774453-chr6:163775997..163777514,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13194411	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2143070	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4709712	0.80[AMR][1000 genomes]
rs6901488	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6905064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6920269	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9346957	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9347742	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9347743	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9355427	0.90[GIH][hapmap]
rs9365560	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9365561	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[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	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1022610	chr6:163591786-163814041	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv11561	chr6:163776750-163777745	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs735751	SNORA20	cis	cerebellum	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163772200-163778000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:163772200-163778600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:163772400-163778800	Enhancers	Placenta	Placenta
4	chr6:163773400-163777600	Enhancers	Fetal Muscle Leg	muscle
5	chr6:163773600-163778000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr6:163775000-163777600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:163775000-163777600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:163775000-163778000	Enhancers	Hela-S3	cervix
9	chr6:163775000-163778400	Enhancers	Fetal Heart	heart
10	chr6:163775200-163777200	Enhancers	Fetal Lung	lung
11	chr6:163775200-163777400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:163775200-163777400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:163775200-163777400	Enhancers	Spleen	Spleen
14	chr6:163775200-163777400	Enhancers	HSMMtube	muscle
15	chr6:163775200-163777800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:163775200-163778000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:163775200-163778000	Enhancers	NHEK	skin
18	chr6:163775200-163778200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:163775200-163778400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:163775200-163778400	Enhancers	Lung	lung
21	chr6:163775400-163777200	Enhancers	Fetal Stomach	stomach
22	chr6:163775400-163777400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:163775400-163777400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:163775400-163777400	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr6:163775600-163777000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr6:163775800-163777000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:163775800-163777200	Enhancers	Primary hematopoietic stem cells	blood
28	chr6:163775800-163777200	Flanking Active TSS	Osteobl	bone
29	chr6:163775800-163777400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:163775800-163777400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr6:163775800-163777400	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr6:163775800-163777400	Enhancers	GM12878-XiMat	blood
33	chr6:163775800-163777400	Flanking Active TSS	HUVEC	blood vessel
34	chr6:163775800-163777600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr6:163775800-163777600	Enhancers	Primary B cells from peripheral blood	blood
36	chr6:163775800-163778000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr6:163775800-163778000	Enhancers	Left Ventricle	heart
38	chr6:163775800-163778400	Enhancers	Right Atrium	heart
39	chr6:163776000-163777000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr6:163776000-163777000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr6:163776000-163777000	Flanking Active TSS	HSMM	muscle
42	chr6:163776000-163777200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr6:163776000-163777200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:163776000-163777200	Enhancers	Fetal Thymus	thymus
45	chr6:163776000-163777600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr6:163776000-163777600	Enhancers	Fetal Muscle Trunk	muscle
47	chr6:163776000-163778000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:163776000-163778000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr6:163776000-163778000	Enhancers	Colonic Mucosa	Colon
50	chr6:163776200-163777000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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