Variant report

Variant	rs73346597
Chromosome Location	chr5:178014922-178014923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10903228	0.92[ASN][1000 genomes]
rs11249555	0.92[ASN][1000 genomes]
rs11952857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954313	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11954316	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11954364	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs174438	0.93[ASN][1000 genomes]
rs262039	0.86[ASN][1000 genomes]
rs262040	0.86[ASN][1000 genomes]
rs262054	1.00[ASN][1000 genomes]
rs262057	1.00[ASN][1000 genomes]
rs262070	0.93[ASN][1000 genomes]
rs3925516	0.92[ASN][1000 genomes]
rs4473788	0.92[ASN][1000 genomes]
rs4639246	0.92[ASN][1000 genomes]
rs6866974	0.92[ASN][1000 genomes]
rs6871372	0.92[ASN][1000 genomes]
rs6889322	0.92[ASN][1000 genomes]
rs7716274	1.00[ASN][1000 genomes]
rs7718720	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv883214	chr5:177876309-178047217	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv883216	chr5:178002325-178025087	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178012800-178015000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:178012800-178015000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:178012800-178015000	Enhancers	Fetal Stomach	stomach
4	chr5:178012800-178015000	Weak transcription	Lung	lung
5	chr5:178012800-178016600	Weak transcription	Right Atrium	heart
6	chr5:178012800-178016800	Weak transcription	Gastric	stomach
7	chr5:178013200-178015600	Bivalent Enhancer	Fetal Lung	lung
8	chr5:178013200-178016000	Weak transcription	Pancreas	Pancrea
9	chr5:178013800-178015600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:178014200-178015000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr5:178014200-178016600	Bivalent Enhancer	Fetal Heart	heart
12	chr5:178014400-178015000	Enhancers	Brain Angular Gyrus	brain
13	chr5:178014400-178015400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:178014400-178015800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:178014600-178015800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr5:178014600-178015800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr5:178014600-178018000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr5:178014800-178015000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:178014800-178015000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:178014800-178015000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr5:178014800-178015000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:178014800-178015000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
23	chr5:178014800-178015000	Bivalent Enhancer	Left Ventricle	heart
24	chr5:178014800-178015000	Enhancers	Right Ventricle	heart
25	chr5:178014800-178015200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:178014800-178015600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr5:178014800-178015600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr5:178014800-178015800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr5:178014800-178015800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr5:178014800-178015800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:178014800-178015800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:178014800-178016000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
33	chr5:178014800-178016200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr5:178014800-178016600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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