Variant report

Variant	rs7341056
Chromosome Location	chr5:166732986-166732987
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	NANOG	chr5:166732837-166733129	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr5:166732950-166733241	H1-hESC	embryonic stem cell:	n/a	n/a
3	GATA3	chr5:166732720-166733049	SH-SY5Y	brain:	n/a	n/a
4	CEBPB	chr5:166732947-166733196	H1-hESC	embryonic stem cell:	n/a	n/a
5	HDAC2	chr5:166732704-166733217	H1-hESC	embryonic stem cell:	n/a	n/a
6	NANOG	chr5:166732843-166733122	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000254297	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10043619	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10462891	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10475839	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11739327	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13355217	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4075224	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4349736	0.81[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56857681	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58150693	0.81[EUR][1000 genomes]
rs59094139	0.99[EUR][1000 genomes]
rs61241624	0.99[EUR][1000 genomes]
rs6865179	0.81[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7730469	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7731005	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869374	chr5:166488702-166817411	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv883100	chr5:166718807-166808602	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:166729000-166733000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:166729600-166733200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:166729600-166733400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:166730400-166734200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:166730600-166734200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr5:166730800-166733200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:166730800-166735200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:166730800-166735200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:166731000-166733000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr5:166731200-166733000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr5:166731200-166733600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:166731200-166735400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:166731600-166733200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:166731800-166733200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:166732200-166733600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:166732400-166734800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:166732600-166733400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr5:166732600-166733400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr5:166732600-166733400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr5:166732800-166733000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:166732800-166733200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr5:166732800-166733200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:166732800-166733200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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