Variant report

Variant	rs10039525
Chromosome Location	chr5:127453720-127453721
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	chr5:127447046..127449842-chr5:127451576..127454099,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10061367	0.82[AFR][1000 genomes]
rs10063647	0.83[AMR][1000 genomes]
rs10067555	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1105315	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2001524	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs251217	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3816006	0.82[AFR][1000 genomes]
rs4835943	0.82[AFR][1000 genomes]
rs6887276	0.83[AMR][1000 genomes]
rs7718286	0.82[AFR][1000 genomes]
rs790152	0.81[ASN][1000 genomes]
rs790153	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs790156	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs806100	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs809841	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[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	esv3422179	chr5:127450653-127456051	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10039525	CTC-228N24.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127421600-127466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:127423600-127494000	Weak transcription	K562	blood
3	chr5:127432400-127454600	Weak transcription	Fetal Kidney	kidney
4	chr5:127441200-127536800	Weak transcription	Colonic Mucosa	Colon
5	chr5:127441400-127457400	Weak transcription	Stomach Mucosa	stomach
6	chr5:127442400-127525000	Weak transcription	Right Ventricle	heart
7	chr5:127443000-127457200	Weak transcription	Pancreas	Pancrea
8	chr5:127443000-127467000	Weak transcription	Esophagus	oesophagus
9	chr5:127443800-127459800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:127444400-127457600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:127445200-127456600	Weak transcription	Spleen	Spleen
12	chr5:127445200-127466800	Weak transcription	Gastric	stomach
13	chr5:127445200-127480200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:127445400-127491800	Weak transcription	Psoas Muscle	Psoas
15	chr5:127447000-127525000	Weak transcription	Fetal Brain Male	brain
16	chr5:127447600-127454800	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr5:127447600-127455000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:127447600-127455000	Strong transcription	Fetal Intestine Large	intestine
19	chr5:127447800-127455000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr5:127447800-127466600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:127448400-127454000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:127448400-127458600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:127448600-127454600	Strong transcription	A549	lung
24	chr5:127448800-127454000	Strong transcription	Primary B cells from cord blood	blood
25	chr5:127448800-127455000	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:127449000-127455000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:127449000-127455000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr5:127449000-127457400	Weak transcription	Placenta	Placenta
29	chr5:127449200-127454000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:127449200-127454000	Weak transcription	Brain Germinal Matrix	brain
31	chr5:127449200-127454800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr5:127449400-127454800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:127449600-127453800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:127449600-127454000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:127449800-127454000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:127450000-127454600	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr5:127450200-127454200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:127450600-127455000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:127451000-127466800	Weak transcription	Thymus	Thymus
40	chr5:127451200-127453800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr5:127451200-127454000	ZNF genes & repeats	GM12878-XiMat	blood
42	chr5:127451200-127465800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:127451200-127465800	Weak transcription	Fetal Intestine Small	intestine
44	chr5:127451400-127454000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:127451400-127490600	Weak transcription	Aorta	Aorta
46	chr5:127451600-127488200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:127451800-127453800	Weak transcription	Brain Anterior Caudate	brain
48	chr5:127451800-127454000	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:127451800-127454400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:127451800-127454600	Weak transcription	HSMM	muscle

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