Variant report

Variant	rs17296541
Chromosome Location	chr5:14612343-14612344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14611853..14613930-chr5:14664860..14666930,2	K562	blood:
2	chr5:14511374..14513824-chr5:14610575..14613467,2	MCF-7	breast:
3	chr5:14603877..14606748-chr5:14611103..14612639,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10052744	1.00[CHD][hapmap]
rs10072696	0.92[EUR][1000 genomes]
rs10080009	1.00[CHD][hapmap]
rs13355896	0.82[EUR][1000 genomes]
rs153921	1.00[CHD][hapmap]
rs153926	1.00[CHD][hapmap]
rs17250963	1.00[CHD][hapmap]
rs17296475	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17362465	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17364066	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs17571949	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs187483	1.00[CHD][hapmap]
rs2435064	0.95[EUR][1000 genomes]
rs3045	1.00[CHD][hapmap]
rs3845281	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58401870	0.82[EUR][1000 genomes]
rs60087848	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6892588	1.00[CHD][hapmap]
rs697565	1.00[CHD][hapmap]
rs73046720	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73046727	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73046737	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73046740	0.98[EUR][1000 genomes]
rs73046743	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73046748	0.87[EUR][1000 genomes]
rs89356	1.00[CHD][hapmap];0.84[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17296541	FAM105B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14592000-14618400	Weak transcription	Hela-S3	cervix
2	chr5:14593200-14618400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:14593600-14615200	Weak transcription	Fetal Brain Female	brain
4	chr5:14594400-14621800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:14595200-14613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:14595400-14616200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:14598200-14618200	Weak transcription	Thymus	Thymus
8	chr5:14598400-14619400	Weak transcription	Small Intestine	intestine
9	chr5:14598800-14616600	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:14598800-14617000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:14598800-14618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:14599000-14616800	Weak transcription	Brain Angular Gyrus	brain
13	chr5:14600000-14618000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:14600400-14615400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:14601200-14618200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:14601400-14617000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr5:14601600-14612600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr5:14602000-14621800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:14602800-14615400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:14603600-14616600	Weak transcription	Liver	Liver
21	chr5:14604800-14618000	Weak transcription	Brain Germinal Matrix	brain
22	chr5:14605400-14618000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:14605600-14617400	Strong transcription	Primary T cells from cord blood	blood
24	chr5:14605600-14620000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:14606400-14617400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:14606800-14617400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:14607600-14618200	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:14607800-14618400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:14608000-14617800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr5:14608200-14618000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:14608400-14614800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:14608600-14613200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:14608600-14615200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr5:14608800-14613200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:14608800-14614600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:14608800-14616800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr5:14608800-14617800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:14608800-14623000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr5:14609000-14619800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:14609200-14622800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr5:14609400-14614800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:14610600-14612600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
43	chr5:14610600-14613400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr5:14610600-14614600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:14610600-14615600	Weak transcription	HepG2	liver
46	chr5:14610600-14621000	Weak transcription	Gastric	stomach
47	chr5:14610800-14613400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:14610800-14614800	Weak transcription	Fetal Thymus	thymus
49	chr5:14610800-14616800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:14610800-14620400	Weak transcription	Fetal Stomach	stomach

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