Variant report

Variant	rs26750
Chromosome Location	chr5:16677816-16677817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10060275	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060411	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11738070	0.95[ASN][1000 genomes]
rs1560087	0.95[ASN][1000 genomes]
rs1560088	0.94[ASN][1000 genomes]
rs2288432	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288433	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288434	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288435	0.98[ASN][1000 genomes]
rs2288436	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288437	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2303703	0.97[ASN][1000 genomes]
rs2401987	0.97[ASN][1000 genomes]
rs26745	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs26746	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs26748	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26749	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26757	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26758	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs27350	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs27501	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27553	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs27880	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28056	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28057	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs399833	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4702166	0.83[ASN][1000 genomes]
rs6881621	0.95[ASN][1000 genomes]
rs6889243	0.97[ASN][1000 genomes]
rs7735007	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv522062	chr5:16670618-16679966	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv516145	chr5:16673685-16679966	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16661600-16689400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:16661800-16700000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:16663000-16712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:16663600-16695400	Strong transcription	Fetal Intestine Small	intestine
5	chr5:16663800-16690800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:16663800-16694400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:16663800-16698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:16663800-16702400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:16664000-16701000	Strong transcription	Fetal Intestine Large	intestine
11	chr5:16664000-16702000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:16664000-16702200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:16664000-16702400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:16664200-16702200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:16664600-16690600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr5:16665600-16699200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:16666200-16680600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:16667400-16683600	Weak transcription	Liver	Liver
19	chr5:16667800-16680000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:16667800-16701000	Weak transcription	Right Ventricle	heart
21	chr5:16670200-16678000	Weak transcription	Fetal Heart	heart
22	chr5:16670800-16686000	Strong transcription	Fetal Stomach	stomach
23	chr5:16671000-16691000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr5:16671200-16690200	Strong transcription	HUVEC	blood vessel
25	chr5:16671800-16685400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:16673000-16679400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:16673800-16680400	Weak transcription	Fetal Brain Male	brain
28	chr5:16673800-16713400	Weak transcription	Psoas Muscle	Psoas
29	chr5:16674000-16678000	Weak transcription	Brain Angular Gyrus	brain
30	chr5:16674000-16678200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:16674200-16687000	Strong transcription	Fetal Lung	lung
32	chr5:16674200-16693000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:16675000-16690400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:16675200-16678400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:16675200-16681200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:16675400-16678400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:16675400-16678800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr5:16675400-16678800	Weak transcription	Colonic Mucosa	Colon
39	chr5:16675400-16678800	Weak transcription	Esophagus	oesophagus
40	chr5:16675400-16678800	Weak transcription	Fetal Kidney	kidney
41	chr5:16675400-16678800	Weak transcription	Stomach Mucosa	stomach
42	chr5:16675400-16679800	Weak transcription	Small Intestine	intestine
43	chr5:16675400-16683000	Weak transcription	Aorta	Aorta
44	chr5:16675600-16678200	Weak transcription	NHEK	skin
45	chr5:16675600-16678400	Weak transcription	Brain Anterior Caudate	brain
46	chr5:16675600-16678400	Weak transcription	Gastric	stomach
47	chr5:16675600-16678800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:16675600-16678800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:16675600-16678800	Weak transcription	Spleen	Spleen
50	chr5:16675800-16678400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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