Variant report

Variant	rs17009530
Chromosome Location	chr10:50395140-50395141
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	chr10:50393958..50396203-chr10:50431601..50433685,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10857445	0.86[EUR][1000 genomes]
rs10857447	0.86[EUR][1000 genomes]
rs12253910	0.86[EUR][1000 genomes]
rs12257188	1.00[EUR][1000 genomes]
rs17009562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17009596	0.86[EUR][1000 genomes]
rs17009606	0.86[EUR][1000 genomes]
rs17451560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2377985	0.86[EUR][1000 genomes]
rs57374856	1.00[EUR][1000 genomes]
rs58131680	0.86[EUR][1000 genomes]
rs6537509	0.86[EUR][1000 genomes]
rs6537510	0.86[EUR][1000 genomes]
rs7075088	1.00[EUR][1000 genomes]
rs73300987	1.00[EUR][1000 genomes]
rs73306720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306725	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7394346	0.86[EUR][1000 genomes]
rs7909019	1.00[EUR][1000 genomes]
rs7911808	0.93[MKK][hapmap];1.00[TSI][hapmap]
rs7912808	0.86[EUR][1000 genomes]
rs7913102	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7922135	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17009530	TCERG1L	trans	lymphoblastoid	seeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50376800-50395200	Enhancers	Primary B cells from peripheral blood	blood
2	chr10:50383400-50395200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:50384400-50396000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr10:50386000-50395200	Weak transcription	Psoas Muscle	Psoas
5	chr10:50386200-50396000	Weak transcription	Placenta	Placenta
6	chr10:50386400-50395200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr10:50386600-50395200	Weak transcription	Lung	lung
8	chr10:50386600-50395200	Weak transcription	Right Ventricle	heart
9	chr10:50386800-50395200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:50391400-50395400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:50391600-50395400	Enhancers	Primary B cells from cord blood	blood
12	chr10:50391600-50399400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr10:50392000-50395200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:50392000-50396000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:50392200-50396000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:50392600-50396000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr10:50392800-50396000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr10:50393200-50395200	Weak transcription	Fetal Lung	lung
19	chr10:50393200-50396200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:50393400-50395200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr10:50393600-50395200	Weak transcription	Pancreas	Pancrea
22	chr10:50393600-50395200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr10:50393600-50395200	Enhancers	Dnd41	blood
24	chr10:50393600-50396000	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:50393600-50396200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr10:50393600-50396200	Weak transcription	Fetal Thymus	thymus
27	chr10:50394000-50395200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr10:50394200-50396800	Flanking Active TSS	K562	blood
29	chr10:50394400-50397000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr10:50394600-50395200	Enhancers	Brain Angular Gyrus	brain
31	chr10:50394600-50395200	Enhancers	Brain Hippocampus Middle	brain
32	chr10:50394600-50396800	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr10:50394600-50398600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr10:50394800-50395200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr10:50394800-50395200	Enhancers	Brain Anterior Caudate	brain
36	chr10:50394800-50395200	Active TSS	Left Ventricle	heart
37	chr10:50394800-50395200	Enhancers	Stomach Smooth Muscle	stomach
38	chr10:50394800-50395400	Enhancers	Right Atrium	heart
39	chr10:50394800-50395400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr10:50394800-50396000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr10:50394800-50396000	Active TSS	GM12878-XiMat	blood
42	chr10:50394800-50396200	Active TSS	Primary T cells fromperipheralblood	blood
43	chr10:50394800-50396200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:50394800-50396200	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr10:50394800-50396200	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr10:50394800-50396600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr10:50394800-50396600	Active TSS	Duodenum Mucosa	Duodenum
48	chr10:50394800-50396800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr10:50394800-50396800	Active TSS	Colonic Mucosa	Colon
50	chr10:50394800-50396800	Active TSS	Colon Smooth Muscle	Colon

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