Variant report

Variant	rs244423
Chromosome Location	chr16:69610002-69610003
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	chr16:69603757..69608003-chr16:69608189..69613154,5	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1043470	0.85[EUR][1000 genomes]
rs11644997	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1465451	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1549287	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs168637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17298067	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs190282	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1972658	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs244416	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs244419	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs244422	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33060	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs33061	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs33062	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs33063	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs39999	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56125990	0.82[EUR][1000 genomes]
rs62049971	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62049973	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62049974	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62052820	0.90[ASN][1000 genomes]
rs7193778	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72783110	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72783112	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8048032	0.80[EUR][1000 genomes]
rs8062941	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9980	0.85[EUR][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	nsv1852	chr16:69566121-69610962	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs244423	CLEC18A	cis	Whole Blood	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69601400-69613000	Weak transcription	Small Intestine	intestine
2	chr16:69601600-69610600	Weak transcription	Ovary	ovary
3	chr16:69601800-69610600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:69602000-69610600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:69602000-69633000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:69602200-69610400	Weak transcription	Placenta	Placenta
7	chr16:69602200-69610400	Weak transcription	Lung	lung
8	chr16:69602200-69619400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr16:69602200-69622000	Weak transcription	Gastric	stomach
10	chr16:69602200-69627000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr16:69602200-69628600	Weak transcription	Right Atrium	heart
12	chr16:69602200-69631600	Weak transcription	Pancreas	Pancrea
13	chr16:69602200-69643200	Weak transcription	Fetal Muscle Leg	muscle
14	chr16:69602200-69646600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr16:69602200-69653600	Weak transcription	Fetal Thymus	thymus
16	chr16:69602400-69610400	Weak transcription	Psoas Muscle	Psoas
17	chr16:69602600-69610600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr16:69602600-69614200	Weak transcription	Fetal Stomach	stomach
19	chr16:69602600-69628600	Weak transcription	Thymus	Thymus
20	chr16:69602600-69628800	Weak transcription	Right Ventricle	heart
21	chr16:69602600-69629600	Weak transcription	HSMMtube	muscle
22	chr16:69602600-69630200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr16:69602600-69630800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr16:69602800-69610200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:69602800-69611400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr16:69602800-69627800	Weak transcription	Fetal Kidney	kidney
27	chr16:69602800-69629200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:69603000-69610600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:69603000-69613400	Weak transcription	Fetal Heart	heart
30	chr16:69603000-69617400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr16:69603000-69627800	Weak transcription	Brain Substantia Nigra	brain
32	chr16:69603000-69647400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr16:69603200-69610600	Weak transcription	Brain Angular Gyrus	brain
34	chr16:69603200-69612000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr16:69603200-69627800	Weak transcription	Primary B cells from cord blood	blood
36	chr16:69603200-69629600	Weak transcription	NH-A	brain
37	chr16:69603400-69614600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr16:69603400-69617200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr16:69603400-69623600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr16:69603600-69610400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:69603600-69610400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr16:69603600-69611400	Weak transcription	Adipose Nuclei	Adipose
43	chr16:69603600-69619400	Weak transcription	K562	blood
44	chr16:69603600-69625200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:69603600-69627000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:69603600-69629200	Weak transcription	HUVEC	blood vessel
47	chr16:69603600-69660000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr16:69603800-69610400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr16:69603800-69610400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr16:69603800-69611600	Weak transcription	NHEK	skin

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