Variant report

Variant	rs1918259
Chromosome Location	chr7:16245357-16245358
allele	A/G
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	EP300	chr7:16241861-16245363	SK-N-SH	brain:	n/a	chr7:16245192-16245202 chr7:16245348-16245357 chr7:16244372-16244386

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16237727..16240035-chr7:16245292..16248267,2	K562	blood:

Variant related genes	Relation type
ISPD-AS1	TF binding region
RPL36AP29	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10264415	0.82[EUR][1000 genomes]
rs10487915	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1527208	0.89[EUR][1000 genomes]
rs1527209	0.87[EUR][1000 genomes]
rs1527219	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1527220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1527221	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528136	0.84[CEU][hapmap]
rs17286418	0.80[EUR][1000 genomes]
rs17287882	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17359183	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17359294	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17458603	0.89[EUR][1000 genomes]
rs17672493	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1918260	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918266	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1918267	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1949952	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1978253	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2214626	0.82[EUR][1000 genomes]
rs35150436	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3857709	0.82[EUR][1000 genomes]
rs4621696	0.83[EUR][1000 genomes]
rs4721485	0.89[EUR][1000 genomes]
rs56024841	0.90[EUR][1000 genomes]
rs56161298	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56279207	0.82[EUR][1000 genomes]
rs61282805	0.85[EUR][1000 genomes]
rs62440374	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62440376	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62440394	0.89[EUR][1000 genomes]
rs62440396	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62440406	0.89[EUR][1000 genomes]
rs62440407	0.82[EUR][1000 genomes]
rs62442360	0.85[EUR][1000 genomes]
rs6956986	0.90[EUR][1000 genomes]
rs6961874	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963052	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6974124	0.90[EUR][1000 genomes]
rs73056339	0.85[EUR][1000 genomes]
rs7778438	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782485	0.82[EUR][1000 genomes]
rs987932	0.92[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv949555	chr7:16078412-16279290	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1035015	chr7:16144928-16273061	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1847175	chr7:16155335-16272661	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv887738	chr7:16211553-16284139	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv887739	chr7:16216494-16284139	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv887740	chr7:16216494-16286261	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv887741	chr7:16216494-16300179	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1030704	chr7:16236162-16271197	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv2757214	chr7:16236162-16334228	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1918259	ANKMY2	cis	parietal	SCAN
rs1918259	SOSTDC1	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16241400-16256400	Weak transcription	Left Ventricle	heart
2	chr7:16242800-16250000	Weak transcription	Gastric	stomach
3	chr7:16244000-16245400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:16244000-16245400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:16244000-16245400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:16244000-16245600	Enhancers	Fetal Lung	lung
7	chr7:16244200-16245400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:16244200-16245400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:16244200-16245600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:16244200-16245600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:16244200-16251000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:16244600-16245400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:16244600-16245400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:16245000-16249800	Weak transcription	K562	blood

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