Variant report

Variant	rs251393
Chromosome Location	chr5:127533085-127533086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:29617945..29620582-chr5:127531925..127533690,2	MCF-7	breast:
2	chr5:127531948..127534863-chr5:127535374..127538007,4	MCF-7	breast:
3	chr5:127531533..127534048-chr5:127534783..127536987,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs251216	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs251389	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs251390	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs251391	0.84[EUR][1000 genomes]
rs3101725	0.83[AMR][1000 genomes]
rs790154	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs790155	0.84[AMR][1000 genomes];0.86[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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs251393	CTC-228N24.3	cis	Skin Sun Exposed Lower leg	GTEx
rs251393	CTC-228N24.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127441200-127536800	Weak transcription	Colonic Mucosa	Colon
2	chr5:127457600-127534400	Weak transcription	Pancreas	Pancrea
3	chr5:127468000-127536800	Weak transcription	Fetal Brain Female	brain
4	chr5:127480600-127534400	Weak transcription	Gastric	stomach
5	chr5:127485000-127536800	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:127488600-127533200	Weak transcription	Stomach Mucosa	stomach
7	chr5:127490800-127536600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:127494400-127534800	Weak transcription	Liver	Liver
9	chr5:127494400-127536800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:127494600-127534400	Weak transcription	HUVEC	blood vessel
11	chr5:127499000-127533400	Weak transcription	GM12878-XiMat	blood
12	chr5:127499200-127534600	Weak transcription	Lung	lung
13	chr5:127500400-127536800	Weak transcription	NHEK	skin
14	chr5:127504600-127536800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:127508400-127533200	Weak transcription	A549	lung
16	chr5:127511400-127535000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:127515600-127533200	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:127516400-127536800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:127516600-127534600	Weak transcription	HMEC	breast
20	chr5:127516800-127534400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:127520400-127534800	Weak transcription	HSMM	muscle
22	chr5:127521200-127537200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:127522400-127534400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:127522400-127534600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:127522600-127533200	Weak transcription	Left Ventricle	heart
26	chr5:127522600-127533800	Weak transcription	NH-A	brain
27	chr5:127522600-127536800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr5:127522600-127536800	Weak transcription	Brain Angular Gyrus	brain
29	chr5:127522600-127536800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:127522600-127536800	Weak transcription	Fetal Kidney	kidney
31	chr5:127522800-127536400	Weak transcription	Brain Substantia Nigra	brain
32	chr5:127522800-127536600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:127522800-127536600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:127522800-127536800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:127523000-127536800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:127523000-127536800	Weak transcription	Adipose Nuclei	Adipose
37	chr5:127523000-127536800	Weak transcription	Brain Anterior Caudate	brain
38	chr5:127526200-127536600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:127526200-127536800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:127527000-127536800	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:127527000-127536800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:127529400-127533400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:127529600-127536600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:127530000-127535800	Weak transcription	Primary B cells from cord blood	blood
45	chr5:127530000-127536800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:127530000-127536800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:127530000-127536800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:127530000-127537000	Weak transcription	Aorta	Aorta
49	chr5:127530000-127537200	Weak transcription	HSMMtube	muscle
50	chr5:127531600-127533400	Strong transcription	Rectal Mucosa Donor 29	rectum

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