Variant report

Variant	rs17135541
Chromosome Location	chr5:112614903-112614904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10519341	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17135473	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17135525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17135586	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17135601	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17135607	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17135615	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17376277	0.87[EUR][1000 genomes]
rs1822487	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1822494	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2222145	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2900070	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3843500	0.91[EUR][1000 genomes]
rs41459745	1.00[EUR][1000 genomes]
rs589147	0.82[EUR][1000 genomes]
rs59073951	0.87[EUR][1000 genomes]
rs6871668	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7719254	0.82[EUR][1000 genomes]
rs882755	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112586600-112623600	Weak transcription	Pancreas	Pancrea
2	chr5:112587600-112617000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:112600200-112618000	Weak transcription	Fetal Kidney	kidney
4	chr5:112602200-112616600	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:112603000-112616800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:112607600-112616200	Weak transcription	Esophagus	oesophagus
7	chr5:112608000-112628200	Weak transcription	HMEC	breast
8	chr5:112610000-112628200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:112610800-112616400	Weak transcription	Spleen	Spleen
10	chr5:112610800-112623200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:112611000-112616600	Weak transcription	Psoas Muscle	Psoas
12	chr5:112611000-112618000	Weak transcription	Fetal Stomach	stomach
13	chr5:112611000-112628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:112611200-112618000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:112611400-112616400	Weak transcription	Adipose Nuclei	Adipose
16	chr5:112611400-112616400	Weak transcription	HUVEC	blood vessel
17	chr5:112612000-112616400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:112612000-112616600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:112612000-112618000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:112612000-112623800	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:112612000-112625200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:112612200-112616400	Weak transcription	Liver	Liver
23	chr5:112612200-112616800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:112612200-112616800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:112612200-112617000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:112612200-112625200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:112612400-112615200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:112612400-112615400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:112612400-112616400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:112612400-112617000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:112612400-112617000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:112612400-112618400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:112612600-112616400	Weak transcription	Brain Substantia Nigra	brain
34	chr5:112612600-112617200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:112613400-112618000	Enhancers	Ovary	ovary
36	chr5:112613600-112615000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:112613600-112617200	Enhancers	Left Ventricle	heart
38	chr5:112613800-112615000	Enhancers	Fetal Heart	heart
39	chr5:112613800-112615200	Enhancers	Right Atrium	heart
40	chr5:112614200-112615000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:112614200-112615000	Enhancers	NH-A	brain
42	chr5:112614200-112615400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:112614200-112617000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:112614200-112625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:112614400-112615200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:112614400-112615400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:112614400-112616400	Weak transcription	Lung	lung
48	chr5:112614400-112616600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:112614400-112617000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr5:112614400-112617400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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