Variant report

Variant	rs17185509
Chromosome Location	chr14:25454309-25454310
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	chr14:25452953..25454512-chr14:25455893..25457917,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17185453	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17185593	0.92[JPT][hapmap]
rs17257668	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17257752	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1886054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1886055	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs58764839	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59366121	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59957224	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60667968	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60783613	0.87[ASN][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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1041051	chr14:25388230-25480511	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1047792	chr14:25388933-25503799	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25424600-25460600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:25430000-25465800	Weak transcription	Lung	lung
3	chr14:25436600-25454400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:25436600-25455400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:25444200-25454600	Weak transcription	Right Atrium	heart
6	chr14:25445600-25454600	Weak transcription	Brain Anterior Caudate	brain
7	chr14:25451800-25454400	Weak transcription	Left Ventricle	heart
8	chr14:25451800-25454400	Weak transcription	Pancreas	Pancrea
9	chr14:25451800-25454600	Weak transcription	Psoas Muscle	Psoas
10	chr14:25451800-25456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:25451800-25470200	Weak transcription	HSMMtube	muscle
12	chr14:25452000-25454400	Weak transcription	Placenta	Placenta
13	chr14:25452200-25459000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:25452400-25455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:25452400-25455800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:25452600-25456000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:25452800-25454800	Weak transcription	HepG2	liver
18	chr14:25452800-25470000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:25453200-25455000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr14:25453200-25456200	Enhancers	Small Intestine	intestine
21	chr14:25453400-25454400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr14:25453400-25454400	Enhancers	K562	blood
23	chr14:25453400-25456000	Enhancers	Fetal Intestine Small	intestine
24	chr14:25453600-25454400	Strong transcription	HSMM	muscle
25	chr14:25453600-25455000	Enhancers	Rectal Smooth Muscle	rectum
26	chr14:25453600-25455800	Enhancers	Fetal Intestine Large	intestine
27	chr14:25453600-25456400	Enhancers	Duodenum Mucosa	Duodenum
28	chr14:25453800-25454800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:25453800-25455000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr14:25453800-25455000	Enhancers	HUVEC	blood vessel
31	chr14:25454000-25454800	Enhancers	Colonic Mucosa	Colon
32	chr14:25454000-25455200	Enhancers	Stomach Smooth Muscle	stomach
33	chr14:25454000-25455400	Enhancers	Colon Smooth Muscle	Colon
34	chr14:25454000-25455800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr14:25454000-25455800	Enhancers	Brain Substantia Nigra	brain
36	chr14:25454000-25455800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr14:25454000-25456000	Enhancers	Fetal Lung	lung
38	chr14:25454200-25454400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr14:25454200-25454600	ZNF genes & repeats	Fetal Brain Male	brain
40	chr14:25454200-25454800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr14:25454200-25454800	Enhancers	Fetal Kidney	kidney
42	chr14:25454200-25455000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr14:25454200-25455400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr14:25454200-25455800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:25454200-25455800	Enhancers	Adipose Nuclei	Adipose
46	chr14:25454200-25455800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr14:25454200-25455800	Enhancers	Fetal Muscle Leg	muscle
48	chr14:25454200-25455800	Enhancers	Right Ventricle	heart
49	chr14:25454200-25456000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:25454200-25456000	Enhancers	Fetal Heart	heart

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