Variant report

Variant	rs7561361
Chromosome Location	chr2:77212976-77212977
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	FOS	chr2:77212834-77213081	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr2:77212513-77213078	HUVEC	blood vessel:	n/a	n/a
3	FOS	chr2:77212832-77213032	MCF10A-Er-Src	breast:	n/a	n/a
4	TCF7L2	chr2:77212453-77213182	HCT-116	colon:	n/a	n/a
5	FOS	chr2:77212599-77213137	HUVEC	blood vessel:	n/a	n/a
6	GATA2	chr2:77212440-77213255	HUVEC	blood vessel:	n/a	chr2:77212821-77212835
7	POLR2A	chr2:77212130-77214016	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr2:77212120-77213315	PFSK-1	brain:	n/a	n/a
9	TAF1	chr2:77212361-77213270	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000234653	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10183619	0.93[EUR][1000 genomes]
rs10183642	0.93[EUR][1000 genomes]
rs10186912	0.93[EUR][1000 genomes]
rs10187466	0.81[EUR][1000 genomes]
rs10190179	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10190198	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10190443	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10192262	0.83[EUR][1000 genomes]
rs10196630	0.93[EUR][1000 genomes]
rs10196749	0.91[EUR][1000 genomes]
rs10196758	0.92[EUR][1000 genomes]
rs10196801	0.93[EUR][1000 genomes]
rs10196895	0.93[EUR][1000 genomes]
rs10196939	0.93[EUR][1000 genomes]
rs10201530	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11126576	0.84[EUR][1000 genomes]
rs11896560	0.84[EUR][1000 genomes]
rs11896587	0.84[EUR][1000 genomes]
rs12621674	0.94[EUR][1000 genomes]
rs12987907	0.90[EUR][1000 genomes]
rs12992834	0.91[EUR][1000 genomes]
rs13013784	0.91[EUR][1000 genomes]
rs13427438	0.93[EUR][1000 genomes]
rs13427514	0.93[EUR][1000 genomes]
rs1345136	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1348831	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1374388	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1374389	0.92[EUR][1000 genomes]
rs1374390	0.92[EUR][1000 genomes]
rs1446693	0.87[EUR][1000 genomes]
rs1446695	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1446697	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1446698	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1446701	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1446702	0.91[EUR][1000 genomes]
rs1446703	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1446704	0.91[EUR][1000 genomes]
rs1446705	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1446707	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1446710	0.93[EUR][1000 genomes]
rs1446712	0.93[EUR][1000 genomes]
rs1470504	0.92[EUR][1000 genomes]
rs1470505	0.93[EUR][1000 genomes]
rs1470506	0.93[EUR][1000 genomes]
rs1470507	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1470508	0.93[EUR][1000 genomes]
rs1584235	0.92[EUR][1000 genomes]
rs1584236	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1584237	0.93[EUR][1000 genomes]
rs17013592	0.92[EUR][1000 genomes]
rs17013595	0.92[EUR][1000 genomes]
rs1838880	0.91[EUR][1000 genomes]
rs1838881	0.91[EUR][1000 genomes]
rs2028913	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2121409	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2121410	0.93[EUR][1000 genomes]
rs2121411	0.93[EUR][1000 genomes]
rs2197603	0.94[EUR][1000 genomes]
rs2860937	0.93[EUR][1000 genomes]
rs2860938	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2901812	0.91[EUR][1000 genomes]
rs34372910	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34632326	0.92[EUR][1000 genomes]
rs35038238	0.91[EUR][1000 genomes]
rs35659577	0.91[EUR][1000 genomes]
rs4143794	0.93[EUR][1000 genomes]
rs4143796	0.93[EUR][1000 genomes]
rs4853283	0.83[EUR][1000 genomes]
rs4853286	0.93[EUR][1000 genomes]
rs4853287	0.92[EUR][1000 genomes]
rs4853288	0.92[EUR][1000 genomes]
rs4853289	0.92[EUR][1000 genomes]
rs4853291	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56314043	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6547104	0.84[EUR][1000 genomes]
rs6547110	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6547114	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6547115	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6547116	0.87[EUR][1000 genomes]
rs6547117	0.88[EUR][1000 genomes]
rs6547118	0.88[EUR][1000 genomes]
rs6718391	0.93[EUR][1000 genomes]
rs6718440	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6732462	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6739222	0.94[EUR][1000 genomes]
rs6743454	0.93[EUR][1000 genomes]
rs727000	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7563917	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7569624	0.86[EUR][1000 genomes]
rs7591186	0.91[EUR][1000 genomes]
rs7597923	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7601256	0.80[EUR][1000 genomes]
rs7604936	0.91[EUR][1000 genomes]
rs7605187	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs765572	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9309508	0.84[EUR][1000 genomes]
rs9309509	0.83[EUR][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	esv2752990	chr2:77038541-77217310	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv834266	chr2:77120236-77287504	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77210600-77214200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:77210600-77214200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:77211000-77214200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:77211600-77213000	Enhancers	Fetal Lung	lung
5	chr2:77211600-77213800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:77211600-77214000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:77211600-77214000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:77211600-77214000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:77211600-77214000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:77211800-77213200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:77212000-77213000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:77212600-77214000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:77212800-77213000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr2:77212800-77213000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:77212800-77213000	Active TSS	HUVEC	blood vessel
16	chr2:77212800-77213400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:77212800-77214000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:77212800-77214400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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