Variant report

Variant	rs685294
Chromosome Location	chr11:84735715-84735716
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	POLR2A	chr11:84735349-84735758	SK-N-MC	brain:	n/a	n/a
2	TEAD4	chr11:84735362-84735810	H1-hESC	embryonic stem cell:	n/a	chr11:84735573-84735582
3	MAFK	chr11:84735391-84735719	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
HNRNPCP6	TF binding region

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10792792	0.96[CEU][hapmap]
rs10792794	0.92[CEU][hapmap]
rs10898336	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs10898343	0.96[CEU][hapmap]
rs1227842	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs1227843	0.96[CEU][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1237921	0.94[CEU][hapmap];0.86[CHB][hapmap];0.84[YRI][hapmap]
rs1238728	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs1940122	0.96[CEU][hapmap];0.86[YRI][hapmap]
rs1940123	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs1940133	0.96[CEU][hapmap];0.86[YRI][hapmap]
rs2155410	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2155411	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs2155412	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs2252376	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2253167	0.96[CEU][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap]
rs2444254	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2444255	0.96[CEU][hapmap];0.85[CHB][hapmap];0.81[YRI][hapmap]
rs2453151	0.92[CEU][hapmap]
rs2509053	0.96[CEU][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2509056	0.89[CEU][hapmap]
rs3862779	0.96[CEU][hapmap];0.85[YRI][hapmap]
rs490286	0.89[CEU][hapmap]
rs527389	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs542892	0.96[CEU][hapmap]
rs543740	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs555156	0.92[CEU][hapmap]
rs555259	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs560214	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs560587	0.86[EUR][1000 genomes]
rs567594	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs568641	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs573650	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs574671	0.96[CEU][hapmap];0.87[YRI][hapmap]
rs575189	0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[YRI][hapmap]
rs577950	0.96[CEU][hapmap]
rs578782	0.92[CEU][hapmap]
rs581943	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs582884	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs589093	0.89[CEU][hapmap]
rs592166	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs592622	0.96[CEU][hapmap]
rs593800	0.92[CEU][hapmap]
rs594122	0.88[EUR][1000 genomes]
rs595435	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs596556	0.96[CEU][hapmap]
rs597592	0.95[CEU][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs601375	0.88[CEU][hapmap]
rs605652	0.95[CEU][hapmap]
rs607864	0.92[CEU][hapmap]
rs613265	1.00[CEU][hapmap]
rs613315	0.96[CEU][hapmap];0.88[CHB][hapmap]
rs617231	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs621007	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs625495	0.96[CEU][hapmap];0.86[YRI][hapmap]
rs626531	0.96[CEU][hapmap]
rs626700	0.92[CEU][hapmap]
rs630948	0.96[CEU][hapmap];0.81[YRI][hapmap]
rs631370	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs632351	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs635032	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs641655	0.92[CEU][hapmap]
rs641958	0.88[CEU][hapmap];0.81[YRI][hapmap]
rs643891	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs646324	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[YRI][hapmap]
rs646502	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs648506	0.84[EUR][1000 genomes]
rs649468	0.92[CEU][hapmap]
rs650374	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs651661	0.96[CEU][hapmap];0.93[YRI][hapmap]
rs652830	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs658749	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6592215	0.96[CEU][hapmap]
rs6592216	0.96[CEU][hapmap]
rs6592220	0.83[EUR][1000 genomes]
rs6592221	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs6592222	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs660274	0.92[CEU][hapmap]
rs666735	0.89[CEU][hapmap]
rs670998	0.96[CEU][hapmap]
rs675160	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs675217	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs675255	0.96[CEU][hapmap]
rs679745	0.88[CEU][hapmap]
rs686009	0.92[CEU][hapmap]
rs687695	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[YRI][hapmap]
rs688329	0.92[CEU][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes]
rs689226	0.88[CEU][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes]
rs694142	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7127990	0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1048051	chr11:84419442-84784233	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541109	chr11:84419442-84784233	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv430415	chr11:84661652-84833852	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1055097	chr11:84672444-84810441	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1040393	chr11:84708402-84866594	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv555629	chr11:84720020-84744926	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv527535	chr11:84724795-84895033	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv528491	chr11:84724795-84895033	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84735200-84736000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr11:84735200-84736000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:84735400-84735800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr11:84735400-84736000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:84735600-84735800	Enhancers	Cortex derived primary cultured neurospheres	brain

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