Variant report

Variant	rs9379989
Chromosome Location	chr6:27550712-27550713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27549818..27556949-chr6:27557615..27563432,7	K562	blood:
2	chr6:27524984..27526507-chr6:27548832..27551332,2	K562	blood:
3	chr6:27549715..27554180-chr6:27555593..27563261,8	K562	blood:
4	chr6:27549250..27552001-chr6:27776504..27778830,2	K562	blood:
5	chr6:27114045..27116031-chr6:27550657..27552819,2	K562	blood:

Variant related genes	Relation type
ENSG00000184825	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000197903	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1010261	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap]
rs12174918	0.88[AMR][1000 genomes]
rs13201294	0.90[ASN][1000 genomes]
rs16867962	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs2394001	0.88[AMR][1000 genomes]
rs4711158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711161	0.91[AMR][1000 genomes]
rs4713116	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4713117	1.00[AMR][1000 genomes]
rs4713122	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs4713124	0.88[AMR][1000 genomes]
rs56911191	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58727692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59015666	0.88[AMR][1000 genomes]
rs9357041	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9368515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9368516	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9379987	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9379988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9379991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9379993	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9379997	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9380009	0.88[AMR][1000 genomes]
rs9380013	0.88[AMR][1000 genomes]
rs9380014	0.84[AMR][1000 genomes]
rs9380015	0.88[AMR][1000 genomes]
rs9393825	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9393829	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs9393845	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9393854	1.00[CEU][hapmap]
rs9393855	0.84[AMR][1000 genomes]
rs9468183	0.89[CHB][hapmap]

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	nsv883509	chr6:27492906-27586181	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27544000-27551200	Weak transcription	Hela-S3	cervix
2	chr6:27546800-27551200	Weak transcription	K562	blood
3	chr6:27550200-27551400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:27550400-27550800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:27550400-27551200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:27550400-27551400	Active TSS	A549	lung
7	chr6:27550400-27551600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:27550400-27551800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:27550400-27551800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:27550400-27552000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr6:27550400-27552000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:27550400-27552200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr6:27550400-27552200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:27550400-27552200	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:27550400-27552400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr6:27550600-27550800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:27550600-27551200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:27550600-27551200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr6:27550600-27551200	Enhancers	HepG2	liver
20	chr6:27550600-27551400	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr6:27550600-27551400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:27550600-27551400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:27550600-27551600	Active TSS	NHEK	skin
24	chr6:27550600-27551800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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