Variant report

Variant	rs60248809
Chromosome Location	chr6:109640690-109640691
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:109631513..109637347-chr6:109638223..109642715,6	K562	blood:
2	chr6:109633494..109635331-chr6:109638661..109641514,2	MCF-7	breast:
3	chr6:109640571..109644823-chr6:109646386..109650384,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000218632	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1006081	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11153169	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759230	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759269	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191774	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4945829	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4946954	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946955	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4946956	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4946957	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4946959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946960	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4946962	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57749539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903519	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9374083	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9386798	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9400274	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv5435	chr6:109633035-109669127	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60248809	CD164	cis	Muscle Skeletal	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109629600-109654000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:109634200-109641200	Enhancers	Fetal Muscle Leg	muscle
3	chr6:109634400-109644000	Weak transcription	Spleen	Spleen
4	chr6:109635200-109641200	Enhancers	Brain Hippocampus Middle	brain
5	chr6:109635600-109646600	Weak transcription	HSMMtube	muscle
6	chr6:109636200-109641800	Enhancers	Fetal Intestine Large	intestine
7	chr6:109636200-109642000	Enhancers	Fetal Intestine Small	intestine
8	chr6:109636400-109641200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr6:109637400-109649800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:109637800-109640800	Enhancers	Fetal Thymus	thymus
11	chr6:109638000-109640800	Enhancers	Brain Substantia Nigra	brain
12	chr6:109638200-109644000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:109638400-109641800	Enhancers	Stomach Mucosa	stomach
14	chr6:109638400-109645400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:109638800-109640800	Enhancers	Fetal Muscle Trunk	muscle
16	chr6:109638800-109641000	Enhancers	Thymus	Thymus
17	chr6:109639000-109640800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:109639200-109640800	Enhancers	Primary hematopoietic stem cells	blood
19	chr6:109639600-109641400	Enhancers	Fetal Heart	heart
20	chr6:109639800-109640800	Enhancers	Right Ventricle	heart
21	chr6:109640000-109640800	Enhancers	Brain Anterior Caudate	brain
22	chr6:109640200-109640800	Enhancers	Brain Cingulate Gyrus	brain
23	chr6:109640200-109640800	Enhancers	Colonic Mucosa	Colon
24	chr6:109640200-109640800	Enhancers	HepG2	liver
25	chr6:109640200-109641000	Enhancers	Small Intestine	intestine
26	chr6:109640200-109641600	Enhancers	Duodenum Mucosa	Duodenum
27	chr6:109640200-109644000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr6:109640200-109644000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:109640400-109640800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr6:109640400-109643000	Weak transcription	Primary B cells from cord blood	blood
31	chr6:109640400-109643600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr6:109640600-109641000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr6:109640600-109642800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr6:109640600-109644000	Weak transcription	Left Ventricle	heart
35	chr6:109640600-109644000	Weak transcription	K562	blood
36	chr6:109640600-109644200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:109640600-109646400	Weak transcription	Brain Angular Gyrus	brain
38	chr6:109640600-109648800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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