Variant report

Variant	rs26185
Chromosome Location	chr5:14468448-14468449
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17428704	0.95[AFR][1000 genomes]
rs249809	0.96[EUR][1000 genomes]
rs26186	1.00[CEU][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[EUR][1000 genomes]
rs26213	0.96[EUR][1000 genomes]
rs55812347	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62345051	0.95[AFR][1000 genomes]
rs62345053	0.95[AFR][1000 genomes]

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	nsv461981	chr5:14426611-14509903	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv597240	chr5:14426611-14509903	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14446800-14511400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14450800-14509000	Strong transcription	Primary B cells from peripheral blood	blood
3	chr5:14452800-14473200	Weak transcription	Fetal Heart	heart
4	chr5:14455000-14468800	Strong transcription	Lung	lung
5	chr5:14457600-14469200	Strong transcription	GM12878-XiMat	blood
6	chr5:14457800-14469200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:14458200-14509200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:14458400-14490000	Strong transcription	Adipose Nuclei	Adipose
9	chr5:14458600-14490400	Strong transcription	Fetal Stomach	stomach
10	chr5:14458800-14509000	Strong transcription	Liver	Liver
11	chr5:14458800-14510600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:14459200-14469000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:14459200-14469200	Strong transcription	Left Ventricle	heart
14	chr5:14459400-14508800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:14459400-14509000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:14459600-14469200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:14460400-14468600	Strong transcription	Fetal Lung	lung
18	chr5:14460400-14468800	Strong transcription	HepG2	liver
19	chr5:14460400-14470400	Strong transcription	Aorta	Aorta
20	chr5:14460600-14490600	Strong transcription	Stomach Smooth Muscle	stomach
21	chr5:14460800-14469600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:14460800-14476000	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:14461000-14468800	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr5:14461600-14472400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:14461800-14469600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:14462400-14471400	Weak transcription	Primary T cells from cord blood	blood
27	chr5:14463200-14481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:14464200-14469600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr5:14464200-14474200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:14464200-14475800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:14464400-14471000	Strong transcription	NHEK	skin
32	chr5:14464400-14474800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:14464400-14475000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:14464400-14487800	Strong transcription	Fetal Intestine Large	intestine
35	chr5:14464600-14469000	Strong transcription	Colon Smooth Muscle	Colon
36	chr5:14464800-14469200	Strong transcription	NHDF-Ad	bronchial
37	chr5:14464800-14475600	Strong transcription	Osteobl	bone
38	chr5:14464800-14487400	Strong transcription	Primary B cells from cord blood	blood
39	chr5:14464800-14511400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:14465200-14469000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:14465200-14474200	Weak transcription	Small Intestine	intestine
42	chr5:14465200-14474400	Strong transcription	HMEC	breast
43	chr5:14465200-14475800	Strong transcription	NHLF	lung
44	chr5:14465200-14487600	Strong transcription	A549	lung
45	chr5:14465200-14488800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:14465200-14494400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:14465400-14469200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:14465400-14475400	Strong transcription	HUVEC	blood vessel
49	chr5:14465400-14477000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:14465400-14483800	Strong transcription	Rectal Mucosa Donor 29	rectum

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