Variant report

Variant	rs17249153
Chromosome Location	chr14:67969810-67969811
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	chr14:67946762..67947287-chr14:67969455..67970025,2	MCF-7	breast:
2	chr14:67968272..67970276-chr14:67989655..67991450,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12589622	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12589836	0.85[CEU][hapmap];1.00[LWK][hapmap];1.00[AFR][1000 genomes]
rs12590588	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17184762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17191694	1.00[LWK][hapmap]
rs17249049	1.00[LWK][hapmap]
rs17249111	0.85[CEU][hapmap];1.00[LWK][hapmap];1.00[AFR][1000 genomes]
rs2273597	1.00[AMR][1000 genomes];0.93[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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv826970	chr14:67966521-67971459	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
2	chr14:67956000-67978000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:67956200-67981000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:67959400-67979800	Weak transcription	Fetal Brain Male	brain
5	chr14:67961400-67972600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:67961400-67979400	Weak transcription	Primary B cells from cord blood	blood
7	chr14:67961400-67979400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:67961600-67976800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:67961600-67979400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:67961800-67976400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:67962800-67979200	Weak transcription	Pancreas	Pancrea
12	chr14:67964000-67970000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:67964200-67980800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:67965000-67979400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:67965000-67980200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:67965200-67980200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr14:67965400-67980800	Weak transcription	Primary T cells from cord blood	blood
18	chr14:67968200-67973000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:67968200-67973000	Weak transcription	NHEK	skin
20	chr14:67968400-67970000	Weak transcription	Placenta	Placenta
21	chr14:67968800-67980400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr14:67969400-67970400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr14:67969600-67970200	Enhancers	Fetal Intestine Small	intestine
24	chr14:67969600-67970200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr14:67969800-67970200	Enhancers	Liver	Liver
26	chr14:67969800-67970200	Enhancers	Duodenum Mucosa	Duodenum
27	chr14:67969800-67970200	Enhancers	Hela-S3	cervix

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