Variant report

Variant	rs344717
Chromosome Location	chr5:16180673-16180674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:16177252-16182613	SK-N-SH	brain:	n/a	n/a
2	MAX	chr5:16180271-16180820	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr5:16180078-16180910	H1-hESC	embryonic stem cell:	n/a	chr5:16180114-16180124

Variant related genes	Relation type
MARCH11	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs182942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237065	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582666	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342545	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342546	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342547	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs342548	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342550	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342557	1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342559	1.00[CHB][hapmap]

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	nsv830217	chr5:16004704-16225229	Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3359354	chr5:16178477-16181525	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3498640	chr5:16178577-16181350	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3498642	chr5:16178577-16181350	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16178600-16181000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
2	chr5:16179200-16180800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr5:16179200-16180800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr5:16179400-16180800	Active TSS	Right Ventricle	heart
5	chr5:16180000-16180800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr5:16180000-16180800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:16180000-16180800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:16180000-16181200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr5:16180200-16180800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr5:16180200-16180800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:16180200-16180800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr5:16180200-16180800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:16180200-16180800	Flanking Active TSS	Pancreas	Pancrea
14	chr5:16180200-16181000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:16180200-16181000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr5:16180200-16181400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:16180400-16180800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:16180400-16180800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:16180400-16181000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr5:16180400-16181200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr5:16180600-16180800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
22	chr5:16180600-16180800	Bivalent Enhancer	Brain Substantia Nigra	brain
23	chr5:16180600-16181000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:16180600-16181000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr5:16180600-16181000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr5:16180600-16181000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
27	chr5:16180600-16181000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
28	chr5:16180600-16181000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
29	chr5:16180600-16181600	Flanking Active TSS	Fetal Heart	heart

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