Variant report

Variant	rs6917168
Chromosome Location	chr6:71960117-71960118
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	chr6:71955241..71957809-chr6:71959379..71962225,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10080462	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10755549	0.93[ASN][1000 genomes]
rs10755550	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12198257	0.84[ASN][1000 genomes]
rs12206837	0.84[ASN][1000 genomes]
rs4410694	0.84[EUR][1000 genomes]
rs4513748	0.91[ASN][1000 genomes]
rs4583944	0.93[ASN][1000 genomes]
rs4628055	0.92[EUR][1000 genomes]
rs6917156	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7758727	0.93[ASN][1000 genomes]
rs9294889	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9294891	0.88[ASN][1000 genomes]
rs9342825	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9446358	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9446360	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9455384	0.96[ASN][1000 genomes]
rs9455385	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9455390	0.93[ASN][1000 genomes]
rs9455391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9455392	0.91[ASN][1000 genomes]
rs9455393	0.93[ASN][1000 genomes]
rs9455394	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9455395	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9455396	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9455397	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9455398	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9455400	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763953	chr6:71954956-71968035	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6917168	OGFRL1	cis	cerebellum	SCAN
rs6917168	KCNQ5	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71954600-71961000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:71955600-71972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:71956400-71960200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:71957400-71962400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:71957800-71961200	Enhancers	NHDF-Ad	bronchial
6	chr6:71957800-71965000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr6:71958000-71960200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:71958000-71960200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:71958000-71960200	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:71958000-71960400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:71958000-71960400	Enhancers	NHEK	skin
12	chr6:71958000-71960800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:71958000-71960800	Enhancers	HMEC	breast
14	chr6:71958000-71960800	Enhancers	NH-A	brain
15	chr6:71958000-71961000	Enhancers	Hela-S3	cervix
16	chr6:71958000-71961000	Enhancers	HSMM	muscle
17	chr6:71958000-71961400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:71958000-71961400	Enhancers	Placenta	Placenta
19	chr6:71958000-71965000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:71958200-71961000	Enhancers	Adipose Nuclei	Adipose
21	chr6:71958200-71961200	Enhancers	NHLF	lung
22	chr6:71958200-71963000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr6:71958400-71961000	Weak transcription	Right Ventricle	heart
24	chr6:71958400-71962200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:71958400-71963400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:71958600-71961000	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:71958600-71961800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:71958600-71962000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:71958600-71962400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:71958600-71963400	Enhancers	Primary hematopoietic stem cells	blood
31	chr6:71958800-71961000	Weak transcription	Left Ventricle	heart
32	chr6:71958800-71962600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:71959000-71962600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:71959000-71964000	Weak transcription	Fetal Kidney	kidney
35	chr6:71959200-71960400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr6:71959200-71960800	Weak transcription	Spleen	Spleen
37	chr6:71959400-71964000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:71959400-71964200	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:71959400-71964400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:71959600-71960200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:71959600-71960200	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr6:71959600-71960400	Enhancers	HSMMtube	muscle
43	chr6:71959600-71960600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:71959600-71960600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr6:71959600-71960800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr6:71959600-71960800	Enhancers	Small Intestine	intestine
47	chr6:71959800-71960200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:71959800-71960200	Active TSS	Right Atrium	heart
49	chr6:71959800-71960200	Flanking Active TSS	Osteobl	bone
50	chr6:71959800-71960600	Flanking Active TSS	A549	lung

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