Variant report

Variant	rs152615
Chromosome Location	chr5:14592979-14592980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14591324..14593515-chr5:14599178..14601875,2	MCF-7	breast:
2	chr5:14589229..14592694-chr5:14592750..14596191,3	MCF-7	breast:
3	chr5:14585331..14587252-chr5:14592477..14594441,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145569	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs152614	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs152716	1.00[AMR][1000 genomes]
rs152718	0.83[AMR][1000 genomes]
rs152756	1.00[AMR][1000 genomes]
rs152757	0.83[AMR][1000 genomes]
rs152759	0.83[AMR][1000 genomes]
rs152761	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs152763	0.83[AMR][1000 genomes]
rs152785	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs16903496	1.00[MEX][hapmap]
rs250434	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250863	0.83[AMR][1000 genomes]
rs7711870	1.00[MEX][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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14583200-14594400	Weak transcription	Adipose Nuclei	Adipose
2	chr5:14583400-14593600	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr5:14585400-14593000	Weak transcription	Fetal Brain Female	brain
4	chr5:14585800-14605000	Weak transcription	Fetal Intestine Small	intestine
5	chr5:14586000-14602600	Weak transcription	Fetal Intestine Large	intestine
6	chr5:14587000-14593000	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr5:14587000-14594800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:14587800-14594600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:14588600-14593800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:14588800-14595000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr5:14588800-14595200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr5:14589000-14594600	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:14589200-14593000	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:14589400-14593200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:14589400-14594400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:14589600-14596800	Weak transcription	Esophagus	oesophagus
17	chr5:14590000-14593600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr5:14590200-14594400	Enhancers	Primary T cells from cord blood	blood
19	chr5:14590400-14593600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr5:14590400-14593800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:14590400-14594800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:14590400-14595000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:14590400-14597800	Enhancers	Duodenum Mucosa	Duodenum
24	chr5:14590600-14594600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr5:14590600-14594600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:14590800-14595200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr5:14590800-14595600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr5:14591000-14593000	Weak transcription	Spleen	Spleen
29	chr5:14591200-14593200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:14591200-14594400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:14591400-14593200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:14591400-14593200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:14591400-14593400	Enhancers	Fetal Stomach	stomach
34	chr5:14591400-14593600	Weak transcription	Primary B cells from cord blood	blood
35	chr5:14591400-14593600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr5:14591400-14593600	Weak transcription	Small Intestine	intestine
37	chr5:14591400-14594200	Enhancers	NHLF	lung
38	chr5:14591600-14593200	Genic enhancers	Primary monocytes fromperipheralblood	blood
39	chr5:14591600-14593400	Enhancers	Colonic Mucosa	Colon
40	chr5:14591800-14593800	Weak transcription	Lung	lung
41	chr5:14591800-14610000	Weak transcription	Gastric	stomach
42	chr5:14592000-14593200	Weak transcription	GM12878-XiMat	blood
43	chr5:14592000-14593800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr5:14592000-14594600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:14592000-14594600	Weak transcription	Pancreas	Pancrea
46	chr5:14592000-14618400	Weak transcription	Hela-S3	cervix
47	chr5:14592600-14594400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:14592600-14595200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:14592800-14593200	Enhancers	Stomach Mucosa	stomach
50	chr5:14592800-14593400	Enhancers	Placenta	Placenta

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