Variant report

Variant	rs12706196
Chromosome Location	chr7:118272705-118272706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:118266967..118268957-chr7:118270334..118272916,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10235550	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10953871	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1120921	0.83[EUR][1000 genomes]
rs1120922	0.83[EUR][1000 genomes]
rs11509197	0.86[EUR][1000 genomes]
rs11560382	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11761992	0.81[EUR][1000 genomes]
rs11762065	0.82[EUR][1000 genomes]
rs11767676	0.81[EUR][1000 genomes]
rs11771057	0.86[EUR][1000 genomes]
rs13225141	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13241168	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1355314	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1397325	0.83[EUR][1000 genomes]
rs1510502	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1510504	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1606005	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1721228	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1880152	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1916710	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1916716	0.82[EUR][1000 genomes]
rs1996945	0.81[EUR][1000 genomes]
rs2030649	0.86[EUR][1000 genomes]
rs2049368	0.86[EUR][1000 genomes]
rs2063370	0.86[EUR][1000 genomes]
rs2175297	0.86[EUR][1000 genomes]
rs2175298	0.87[EUR][1000 genomes]
rs2175299	0.86[EUR][1000 genomes]
rs2214150	0.83[EUR][1000 genomes]
rs2248782	0.83[EUR][1000 genomes]
rs2521214	0.83[EUR][1000 genomes]
rs2521215	0.83[EUR][1000 genomes]
rs2521216	0.83[EUR][1000 genomes]
rs2521217	0.83[EUR][1000 genomes]
rs2665760	0.83[EUR][1000 genomes]
rs2665763	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2665764	0.83[EUR][1000 genomes]
rs2665765	0.83[EUR][1000 genomes]
rs2665766	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2665769	0.83[EUR][1000 genomes]
rs2665770	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2689753	0.83[EUR][1000 genomes]
rs2689754	0.83[EUR][1000 genomes]
rs2689755	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2689756	0.82[EUR][1000 genomes]
rs2689757	0.83[EUR][1000 genomes]
rs2689758	0.83[EUR][1000 genomes]
rs304513	0.82[EUR][1000 genomes]
rs304514	0.82[EUR][1000 genomes]
rs304521	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs304522	0.83[EUR][1000 genomes]
rs304524	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs304525	0.82[EUR][1000 genomes]
rs304534	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs304535	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4730879	0.86[EUR][1000 genomes]
rs55698509	0.86[EUR][1000 genomes]
rs56141723	0.86[EUR][1000 genomes]
rs57668449	0.86[EUR][1000 genomes]
rs58071836	0.86[EUR][1000 genomes]
rs58152297	0.86[EUR][1000 genomes]
rs62470082	0.86[EUR][1000 genomes]
rs62470083	0.86[EUR][1000 genomes]
rs62470084	0.85[EUR][1000 genomes]
rs62470086	0.86[EUR][1000 genomes]
rs62470087	0.87[EUR][1000 genomes]
rs6466671	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6949669	0.86[EUR][1000 genomes]
rs6951273	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6967347	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6972496	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs778876	0.86[EUR][1000 genomes]
rs7796854	0.81[EUR][1000 genomes]
rs7800988	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs960884	0.86[EUR][1000 genomes]
rs960886	0.86[EUR][1000 genomes]
rs9641606	0.86[EUR][1000 genomes]
rs9641607	0.85[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	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv889093	chr7:117977091-118709754	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3370633	chr7:118269216-118274214	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118270400-118280400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:118271800-118280600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:118272400-118273200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:118272400-118273400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr7:118272400-118275400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:118272600-118273000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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