Variant report

Variant	rs73470506
Chromosome Location	chr11:57008246-57008247
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	RAD21	chr11:57008143-57008766	SK-N-SH_RA	brain:	n/a	chr11:57008507-57008519 chr11:57008509-57008519
2	GATA3	chr11:57008056-57008831	SH-SY5Y	brain:	n/a	chr11:57008457-57008466
3	EP300	chr11:57008129-57008689	SK-N-SH_RA	brain:	n/a	chr11:57008593-57008607
4	GATA3	chr11:57008120-57008815	SK-N-SH	brain:	n/a	chr11:57008457-57008466
5	POLR2A	chr11:57008236-57008687	SK-N-SH	brain:	n/a	n/a
6	TCF7L2	chr11:57008228-57008465	Hela-S3	cervix:	n/a	n/a
7	REST	chr11:57008065-57008721	SK-N-SH	brain:	n/a	n/a
8	EP300	chr11:57007219-57009560	SK-N-SH	brain:	n/a	chr11:57009230-57009240 chr11:57008593-57008607 chr11:57007390-57007397
9	MXI1	chr11:57007471-57009654	SK-N-SH	brain:	n/a	n/a
10	TCF7L2	chr11:57008166-57008376	PANC-1	pancreas:	n/a	n/a
11	GATA3	chr11:57008112-57008883	SK-N-SH	brain:	n/a	chr11:57008457-57008466
12	TCF12	chr11:57008040-57008905	SK-N-SH	brain:	n/a	chr11:57008485-57008492
13	TCF12	chr11:57008057-57008742	SK-N-SH	brain:	n/a	chr11:57008485-57008492
14	EP300	chr11:57008078-57008732	SK-N-SH_RA	brain:	n/a	chr11:57008593-57008607
15	CTCF	chr11:57008100-57008250	BE2_C	brain:	n/a	n/a
16	GATA2	chr11:57008029-57008992	SH-SY5Y	brain:	n/a	chr11:57008928-57008936 chr11:57008457-57008466
17	EP300	chr11:57008140-57008666	SK-N-SH	brain:	n/a	chr11:57008593-57008607
18	RAD21	chr11:57008149-57008703	SK-N-SH_RA	brain:	n/a	chr11:57008507-57008519 chr11:57008509-57008519
19	REST	chr11:57008165-57008367	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
APLNR	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10896598	0.92[AMR][1000 genomes]
rs11228973	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11606862	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155232	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2155233	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs518272	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs668408	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3373066	chr11:57007276-57011574	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57004200-57009200	Weak transcription	Gastric	stomach
2	chr11:57005000-57009200	Weak transcription	Fetal Lung	lung
3	chr11:57005200-57009000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:57005200-57009200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:57005200-57009200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:57005200-57009200	Weak transcription	Adipose Nuclei	Adipose
7	chr11:57005200-57009200	Weak transcription	Left Ventricle	heart
8	chr11:57005200-57009200	Weak transcription	Lung	lung
9	chr11:57005200-57009800	Enhancers	K562	blood
10	chr11:57005200-57016400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:57005400-57008400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:57005400-57008400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:57005400-57010000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:57005600-57009200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:57006000-57008400	Weak transcription	Spleen	Spleen
16	chr11:57006800-57009200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:57006800-57009600	Enhancers	Liver	Liver
18	chr11:57006800-57010400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:57007000-57008800	Enhancers	Stomach Smooth Muscle	stomach
20	chr11:57007000-57009400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:57007000-57010000	Enhancers	A549	lung
22	chr11:57007200-57011400	Enhancers	Fetal Muscle Leg	muscle
23	chr11:57007400-57009000	Weak transcription	Brain Anterior Caudate	brain
24	chr11:57007400-57010400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:57007400-57010400	Enhancers	HSMMtube	muscle
26	chr11:57007600-57008600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:57007600-57010000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:57007600-57010000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:57007600-57010800	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:57007600-57011200	Enhancers	Placenta	Placenta
31	chr11:57007800-57008800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:57007800-57009000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr11:57007800-57009600	Weak transcription	HSMM	muscle
34	chr11:57007800-57010200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:57008000-57008400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr11:57008200-57008600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr11:57008200-57010000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:57008200-57010200	Enhancers	Right Atrium	heart
39	chr11:57008200-57010400	Enhancers	Fetal Stomach	stomach
40	chr11:57008200-57010600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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