Variant report

Variant	rs72750521
Chromosome Location	chr5:16677509-16677510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11747522	1.00[ASN][1000 genomes]
rs4702164	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6554944	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	chr5:16664800-16677600	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr5:16665600-16699200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:16666200-16680600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:16667400-16683600	Weak transcription	Liver	Liver
20	chr5:16667800-16680000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:16667800-16701000	Weak transcription	Right Ventricle	heart
22	chr5:16670200-16678000	Weak transcription	Fetal Heart	heart
23	chr5:16670800-16686000	Strong transcription	Fetal Stomach	stomach
24	chr5:16671000-16691000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr5:16671200-16690200	Strong transcription	HUVEC	blood vessel
26	chr5:16671800-16685400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:16673000-16679400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:16673800-16680400	Weak transcription	Fetal Brain Male	brain
29	chr5:16673800-16713400	Weak transcription	Psoas Muscle	Psoas
30	chr5:16674000-16678000	Weak transcription	Brain Angular Gyrus	brain
31	chr5:16674000-16678200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:16674200-16687000	Strong transcription	Fetal Lung	lung
33	chr5:16674200-16693000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:16675000-16690400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:16675200-16678400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:16675200-16681200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr5:16675400-16678400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:16675400-16678800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:16675400-16678800	Weak transcription	Colonic Mucosa	Colon
40	chr5:16675400-16678800	Weak transcription	Esophagus	oesophagus
41	chr5:16675400-16678800	Weak transcription	Fetal Kidney	kidney
42	chr5:16675400-16678800	Weak transcription	Stomach Mucosa	stomach
43	chr5:16675400-16679800	Weak transcription	Small Intestine	intestine
44	chr5:16675400-16683000	Weak transcription	Aorta	Aorta
45	chr5:16675600-16678200	Weak transcription	NHEK	skin
46	chr5:16675600-16678400	Weak transcription	Brain Anterior Caudate	brain
47	chr5:16675600-16678400	Weak transcription	Gastric	stomach
48	chr5:16675600-16678800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:16675600-16678800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:16675600-16678800	Weak transcription	Spleen	Spleen

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