Variant report

Variant	rs9379995
Chromosome Location	chr6:27590771-27590772
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	chr6:27588632..27593657-chr6:27594318..27600598,11	K562	blood:
2	chr6:27585304..27588262-chr6:27590023..27594531,5	K562	blood:

Variant related genes	Relation type
ENSG00000238648	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1028311	0.92[EUR][1000 genomes]
rs10484400	0.83[ASN][1000 genomes]
rs10946943	0.84[ASN][1000 genomes]
rs12055685	0.84[ASN][1000 genomes]
rs12173985	0.87[ASN][1000 genomes]
rs12174087	0.88[ASN][1000 genomes]
rs12663707	0.83[ASN][1000 genomes]
rs12664599	0.82[ASN][1000 genomes]
rs1555021	0.87[ASN][1000 genomes]
rs16867886	0.87[ASN][1000 genomes]
rs16867916	0.84[ASN][1000 genomes]
rs16867921	0.83[ASN][1000 genomes]
rs1973889	0.90[ASN][1000 genomes]
rs2142704	0.92[EUR][1000 genomes]
rs2143082	0.88[EUR][1000 genomes]
rs4236044	0.90[EUR][1000 genomes]
rs4711157	0.92[EUR][1000 genomes]
rs4713114	0.92[EUR][1000 genomes]
rs56408767	0.89[ASN][1000 genomes]
rs59893892	0.83[ASN][1000 genomes]
rs6456798	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6906653	0.84[ASN][1000 genomes]
rs6908024	0.92[EUR][1000 genomes]
rs6911283	0.92[EUR][1000 genomes]
rs6920044	0.84[ASN][1000 genomes]
rs6934295	0.92[EUR][1000 genomes]
rs73385147	0.84[ASN][1000 genomes]
rs73385152	0.86[ASN][1000 genomes]
rs73385154	0.86[ASN][1000 genomes]
rs73739763	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7753236	0.83[ASN][1000 genomes]
rs7763685	0.92[EUR][1000 genomes]
rs878241	0.84[ASN][1000 genomes]
rs9348771	0.87[ASN][1000 genomes]
rs9357043	0.87[ASN][1000 genomes]
rs9357044	0.84[ASN][1000 genomes]
rs9368517	0.88[ASN][1000 genomes]
rs9368521	0.86[ASN][1000 genomes]
rs9368524	0.87[ASN][1000 genomes]
rs9368525	0.86[ASN][1000 genomes]
rs9368526	0.83[ASN][1000 genomes]
rs9379994	0.87[ASN][1000 genomes]
rs9380000	0.89[ASN][1000 genomes]
rs9380001	0.88[ASN][1000 genomes]
rs9380005	0.80[ASN][1000 genomes]
rs9393826	0.89[EUR][1000 genomes]
rs9393832	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9393835	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9393836	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9393838	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9393839	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9393842	0.86[ASN][1000 genomes]
rs9461389	0.81[EUR][1000 genomes]
rs9461392	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9468157	0.90[EUR][1000 genomes]
rs9468158	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1030256	chr6:27477726-27605842	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1025862	chr6:27480227-27605321	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1017347	chr6:27483816-27605842	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1025572	chr6:27487852-27604454	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv538167	chr6:27487852-27604454	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv1018107	chr6:27503525-27596736	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv538168	chr6:27503525-27596736	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27586200-27592200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:27586800-27591200	Weak transcription	K562	blood
3	chr6:27587800-27592200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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