Variant report

Variant	rs17474216
Chromosome Location	chr5:114949680-114949681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114934822..114937028-chr5:114947345..114950953,3	MCF-7	breast:
2	chr5:114934667..114936866-chr5:114947563..114949959,2	K562	blood:
3	chr5:114880368..114882503-chr5:114947593..114950215,2	K562	blood:
4	chr5:114947137..114949952-chr5:114960620..114963136,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243414	Chromatin interaction
ENSG00000145780	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000251201	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11740361	0.86[EUR][1000 genomes]
rs1427860	0.86[EUR][1000 genomes]
rs17137978	0.86[EUR][1000 genomes]
rs17393505	0.82[EUR][1000 genomes]
rs17393664	0.80[EUR][1000 genomes]
rs17395548	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17395582	0.89[CEU][hapmap];1.00[EUR][1000 genomes]
rs17472256	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs17472710	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs17473484	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17473708	0.98[EUR][1000 genomes]
rs17473792	0.89[CEU][hapmap];1.00[EUR][1000 genomes]
rs2194114	0.98[EUR][1000 genomes]
rs3776801	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs3776802	0.86[EUR][1000 genomes]
rs7712026	0.88[CEU][hapmap];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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114937800-114951600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:114938200-114957200	Weak transcription	Small Intestine	intestine
3	chr5:114938200-114958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:114938200-114960200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:114938400-114951400	Weak transcription	HepG2	liver
6	chr5:114938600-114949800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:114938600-114950000	Weak transcription	Fetal Intestine Large	intestine
8	chr5:114938600-114950000	Weak transcription	HSMMtube	muscle
9	chr5:114938600-114950200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:114938600-114951600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:114938600-114951800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:114938600-114951800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:114938600-114951800	Weak transcription	Esophagus	oesophagus
14	chr5:114938600-114958000	Weak transcription	Ovary	ovary
15	chr5:114938600-114960000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:114938800-114950000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:114938800-114950200	Weak transcription	Primary T cells from cord blood	blood
18	chr5:114938800-114951600	Weak transcription	K562	blood
19	chr5:114938800-114951800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:114938800-114951800	Weak transcription	Thymus	Thymus
21	chr5:114938800-114951800	Weak transcription	NHLF	lung
22	chr5:114938800-114952000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:114938800-114953800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:114938800-114954000	Weak transcription	Fetal Brain Female	brain
25	chr5:114938800-114954200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:114938800-114954200	Weak transcription	Colonic Mucosa	Colon
27	chr5:114938800-114957400	Weak transcription	Aorta	Aorta
28	chr5:114938800-114958600	Weak transcription	Right Ventricle	heart
29	chr5:114938800-114960000	Weak transcription	Lung	lung
30	chr5:114939000-114950000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:114939000-114950200	Weak transcription	Brain Germinal Matrix	brain
32	chr5:114939000-114955200	Weak transcription	Fetal Heart	heart
33	chr5:114939000-114957200	Weak transcription	Fetal Brain Male	brain
34	chr5:114939000-114957200	Weak transcription	Fetal Intestine Small	intestine
35	chr5:114939000-114957200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:114939000-114957400	Weak transcription	Pancreas	Pancrea
37	chr5:114939000-114958000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:114939000-114958000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:114939000-114958200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:114939000-114958800	Weak transcription	Fetal Stomach	stomach
41	chr5:114939000-114959200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:114939000-114960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:114939200-114949800	Weak transcription	Osteobl	bone
44	chr5:114939200-114950200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:114939200-114951800	Weak transcription	NHEK	skin
46	chr5:114939200-114952600	Weak transcription	Stomach Mucosa	stomach
47	chr5:114939200-114954000	Weak transcription	Brain Anterior Caudate	brain
48	chr5:114939200-114954200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr5:114939200-114954600	Weak transcription	Brain Substantia Nigra	brain
50	chr5:114939200-114957200	Weak transcription	Brain Angular Gyrus	brain

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