Variant report

Variant	rs17571949
Chromosome Location	chr5:14591039-14591040
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	chr5:14589229..14592694-chr5:14592750..14596191,3	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10072696	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13355896	0.82[AMR][1000 genomes]
rs17296475	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17296541	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17362465	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2435064	0.98[EUR][1000 genomes]
rs3845281	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60087848	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73046720	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73046727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73046737	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73046740	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73046743	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73046748	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv823012	chr5:14589930-14591675	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv823013	chr5:14589930-14591928	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17571949	FAM105B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14583200-14594400	Weak transcription	Adipose Nuclei	Adipose
2	chr5:14583400-14591600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:14583400-14593600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr5:14585400-14593000	Weak transcription	Fetal Brain Female	brain
5	chr5:14585800-14605000	Weak transcription	Fetal Intestine Small	intestine
6	chr5:14586000-14602600	Weak transcription	Fetal Intestine Large	intestine
7	chr5:14587000-14593000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr5:14587000-14594800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:14587400-14592600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:14587800-14594600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:14588200-14592000	Enhancers	Pancreas	Pancrea
12	chr5:14588600-14593800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:14588800-14595000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr5:14588800-14595200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:14589000-14594600	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:14589200-14591600	Weak transcription	Colonic Mucosa	Colon
17	chr5:14589200-14593000	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:14589400-14593200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr5:14589400-14594400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr5:14589600-14591400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:14589600-14592800	Weak transcription	Placenta	Placenta
22	chr5:14589600-14596800	Weak transcription	Esophagus	oesophagus
23	chr5:14590000-14593600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr5:14590200-14594400	Enhancers	Primary T cells from cord blood	blood
25	chr5:14590400-14591800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:14590400-14592000	Enhancers	GM12878-XiMat	blood
27	chr5:14590400-14593600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr5:14590400-14593800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr5:14590400-14594800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:14590400-14595000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:14590400-14597800	Enhancers	Duodenum Mucosa	Duodenum
32	chr5:14590600-14591400	Enhancers	Primary B cells from peripheral blood	blood
33	chr5:14590600-14592800	Weak transcription	Stomach Mucosa	stomach
34	chr5:14590600-14594600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr5:14590600-14594600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr5:14590800-14591200	Weak transcription	Small Intestine	intestine
37	chr5:14590800-14591400	Weak transcription	Lung	lung
38	chr5:14590800-14591400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr5:14590800-14592000	Enhancers	Hela-S3	cervix
40	chr5:14590800-14595200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr5:14590800-14595600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr5:14591000-14591200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr5:14591000-14591200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr5:14591000-14591400	Enhancers	Primary B cells from cord blood	blood
45	chr5:14591000-14593000	Weak transcription	Spleen	Spleen

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