Variant report

Variant	rs27623
Chromosome Location	chr5:16810397-16810398
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11745637	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs250348	0.84[CEU][hapmap]
rs250350	0.83[CEU][hapmap]
rs26344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33398	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33399	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs33400	0.81[EUR][1000 genomes]
rs33403	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs33404	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7723239	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[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	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3529928	chr5:16748426-16856563	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3529929	chr5:16748426-16856563	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1030550	chr5:16748966-16872084	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv597309	chr5:16791857-16837862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16795200-16829800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:16797400-16817400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:16799000-16812200	Weak transcription	Fetal Intestine Small	intestine
4	chr5:16802200-16811400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:16804400-16827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:16805600-16811800	Enhancers	Fetal Muscle Leg	muscle
7	chr5:16805800-16811400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:16806000-16811000	Enhancers	Fetal Muscle Trunk	muscle
9	chr5:16807800-16820000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:16807800-16820000	Weak transcription	Esophagus	oesophagus
11	chr5:16808000-16814600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:16808200-16814000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:16808800-16810800	Enhancers	Fetal Brain Male	brain
14	chr5:16809000-16814200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:16809200-16810400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:16809200-16810400	ZNF genes & repeats	Right Atrium	heart
17	chr5:16809200-16810400	Enhancers	HMEC	breast
18	chr5:16809200-16810600	Enhancers	Fetal Brain Female	brain
19	chr5:16809200-16810600	Genic enhancers	Fetal Stomach	stomach
20	chr5:16809200-16810600	Enhancers	Left Ventricle	heart
21	chr5:16809200-16810800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:16809200-16810800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:16809200-16810800	Enhancers	Pancreas	Pancrea
24	chr5:16809200-16810800	Enhancers	NHEK	skin
25	chr5:16809200-16811000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:16809200-16811600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:16809200-16813400	Enhancers	Lung	lung
28	chr5:16809200-16814200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:16809400-16810400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:16809400-16810400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:16809400-16810400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:16809400-16810400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:16809400-16810400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:16809400-16810400	Enhancers	Brain Germinal Matrix	brain
35	chr5:16809400-16810400	Enhancers	Fetal Kidney	kidney
36	chr5:16809400-16810400	Enhancers	Right Ventricle	heart
37	chr5:16809400-16810400	Flanking Active TSS	HSMM	muscle
38	chr5:16809400-16810600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:16809400-16810600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:16809400-16810600	Enhancers	Adipose Nuclei	Adipose
41	chr5:16809400-16810600	Enhancers	Colon Smooth Muscle	Colon
42	chr5:16809400-16810600	Enhancers	Duodenum Mucosa	Duodenum
43	chr5:16809400-16810600	Enhancers	Fetal Heart	heart
44	chr5:16809400-16810600	Enhancers	Placenta	Placenta
45	chr5:16809400-16810600	Enhancers	Gastric	stomach
46	chr5:16809400-16810600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:16809400-16810600	Flanking Active TSS	Osteobl	bone
48	chr5:16809400-16810800	Enhancers	Stomach Mucosa	stomach
49	chr5:16809400-16812000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:16809400-16812600	Genic enhancers	A549	lung

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