Variant report

Variant	rs10073970
Chromosome Location	chr5:178004679-178004680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177995855..177997941-chr5:178001993..178004774,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10064672	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12054910	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs184889	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs262051	0.92[ASN][1000 genomes]
rs4976793	0.83[ASN][1000 genomes]
rs547485	0.90[ASN][1000 genomes]
rs60235494	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs665232	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866360	0.98[ASN][1000 genomes]
rs6893972	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648840	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv462570	chr5:177860454-178010145	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv600423	chr5:177860454-178010145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	esv3404450	chr5:178003046-178007344	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3322525	chr5:178004196-178006694	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178003200-178005000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr5:178003400-178004800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:178003400-178004800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr5:178003400-178004800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr5:178003400-178004800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr5:178003400-178005000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr5:178003400-178005000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr5:178003400-178005000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:178003600-178004800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr5:178003600-178004800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:178003600-178005000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:178003600-178005000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:178004200-178004800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:178004200-178004800	Bivalent Enhancer	Placenta	Placenta
15	chr5:178004200-178005000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr5:178004200-178005600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:178004200-178012400	Weak transcription	Right Atrium	heart
18	chr5:178004400-178004800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
19	chr5:178004400-178005000	Bivalent Enhancer	Fetal Stomach	stomach
20	chr5:178004400-178005000	Enhancers	Right Ventricle	heart
21	chr5:178004400-178005000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr5:178004400-178005400	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr5:178004600-178004800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
24	chr5:178004600-178005000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:178004600-178005000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:178004600-178005000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:178004600-178005000	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr5:178004600-178005200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:178004600-178005400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr5:178004600-178012400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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