Variant report

Variant	rs56216330
Chromosome Location	chr6:35489573-35489574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35487540..35490871-chr6:35654917..35657662,3	MCF-7	breast:
2	chr6:35478821..35481224-chr6:35489312..35491661,2	K562	blood:
3	chr6:35489138..35492526-chr6:35702598..35706407,3	K562	blood:
4	chr6:35463713..35467638-chr6:35488845..35491546,5	K562	blood:
5	chr6:35464547..35467801-chr6:35485995..35490662,5	MCF-7	breast:
6	chr6:35487089..35488630-chr6:35488865..35490692,2	K562	blood:
7	chr6:35440922..35443535-chr6:35489068..35490645,2	K562	blood:

Variant related genes	Relation type
ENSG00000096060	Chromatin interaction
ENSG00000157343	Chromatin interaction
ENSG00000112041	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000232909	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11961458	0.93[EUR][1000 genomes]
rs11961482	0.93[EUR][1000 genomes]
rs11962885	0.93[EUR][1000 genomes]
rs11963387	1.00[EUR][1000 genomes]
rs11963864	1.00[EUR][1000 genomes]
rs11965291	1.00[EUR][1000 genomes]
rs11966198	0.93[EUR][1000 genomes]
rs11966436	0.93[EUR][1000 genomes]
rs12110366	1.00[EUR][1000 genomes]
rs13340463	0.93[EUR][1000 genomes]
rs1475774	0.93[EUR][1000 genomes]
rs16878591	1.00[EUR][1000 genomes]
rs16878806	1.00[EUR][1000 genomes]
rs16879318	0.93[EUR][1000 genomes]
rs16879378	0.93[EUR][1000 genomes]
rs2092427	0.93[EUR][1000 genomes]
rs28675670	1.00[EUR][1000 genomes]
rs34866878	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41270080	1.00[EUR][1000 genomes]
rs45586932	1.00[EUR][1000 genomes]
rs4713908	0.93[EUR][1000 genomes]
rs55832955	0.93[EUR][1000 genomes]
rs56002954	1.00[EUR][1000 genomes]
rs57634040	1.00[EUR][1000 genomes]
rs58873316	1.00[EUR][1000 genomes]
rs59320339	1.00[EUR][1000 genomes]
rs59595954	1.00[EUR][1000 genomes]
rs60279048	0.93[EUR][1000 genomes]
rs60352056	0.93[EUR][1000 genomes]
rs60645405	0.93[EUR][1000 genomes]
rs61024208	1.00[EUR][1000 genomes]
rs61188051	1.00[EUR][1000 genomes]
rs61734569	1.00[EUR][1000 genomes]
rs6909690	0.93[EUR][1000 genomes]
rs6910435	0.87[EUR][1000 genomes]
rs6917735	0.93[EUR][1000 genomes]
rs6917895	0.93[EUR][1000 genomes]
rs6917988	0.93[EUR][1000 genomes]
rs6925456	1.00[EUR][1000 genomes]
rs6932821	0.93[EUR][1000 genomes]
rs6932968	0.93[EUR][1000 genomes]
rs6933159	0.93[EUR][1000 genomes]
rs6941244	0.82[EUR][1000 genomes]
rs73746465	1.00[EUR][1000 genomes]
rs73746467	1.00[EUR][1000 genomes]
rs73746471	1.00[EUR][1000 genomes]
rs73746473	1.00[EUR][1000 genomes]
rs73746475	0.93[EUR][1000 genomes]
rs73746476	0.93[EUR][1000 genomes]
rs73746477	0.93[EUR][1000 genomes]
rs73746478	1.00[EUR][1000 genomes]
rs73746480	0.93[EUR][1000 genomes]
rs73746481	1.00[EUR][1000 genomes]
rs73746483	0.93[EUR][1000 genomes]
rs73746484	0.93[EUR][1000 genomes]
rs73746485	0.93[EUR][1000 genomes]
rs73746488	1.00[EUR][1000 genomes]
rs73746490	1.00[EUR][1000 genomes]
rs73746491	1.00[EUR][1000 genomes]
rs73746494	1.00[EUR][1000 genomes]
rs73746495	0.86[EUR][1000 genomes]
rs73746498	1.00[EUR][1000 genomes]
rs73746499	1.00[EUR][1000 genomes]
rs73748203	1.00[EUR][1000 genomes]
rs73748204	0.93[EUR][1000 genomes]
rs73748205	0.93[EUR][1000 genomes]
rs73748206	1.00[EUR][1000 genomes]
rs73748209	1.00[EUR][1000 genomes]
rs73748211	1.00[EUR][1000 genomes]
rs73748220	0.93[EUR][1000 genomes]
rs73748221	0.93[EUR][1000 genomes]
rs7743425	1.00[EUR][1000 genomes]
rs7747121	1.00[EUR][1000 genomes]
rs7752084	0.93[EUR][1000 genomes]
rs7755718	1.00[ASN][1000 genomes]
rs7771722	1.00[EUR][1000 genomes]
rs9767565	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
2	nsv462909	chr6:35457396-35502202	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
3	nsv602912	chr6:35457396-35502202	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv2761067	chr6:35471246-35573245	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1022435	chr6:35476562-35556141	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1034786	chr6:35476562-35564799	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1031987	chr6:35476562-35579375	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1028302	chr6:35480914-35542591	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv538197	chr6:35480914-35542591	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1024680	chr6:35480914-35555596	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv538198	chr6:35480914-35555596	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv1032973	chr6:35481880-35564799	Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35480200-35490800	Weak transcription	Right Atrium	heart
2	chr6:35480600-35490600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:35480800-35490200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:35484600-35490400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:35487400-35489600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:35487600-35490400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:35487600-35490400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:35487600-35490600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:35487800-35489600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:35487800-35490200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:35487800-35490200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:35487800-35490400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:35487800-35490400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:35488000-35490000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:35488000-35490200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:35488000-35490200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:35488000-35490400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:35488000-35490400	Weak transcription	HMEC	breast
19	chr6:35488600-35490000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:35488800-35490000	Bivalent Enhancer	HepG2	liver
21	chr6:35489000-35490200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr6:35489000-35490800	Enhancers	Fetal Muscle Trunk	muscle
23	chr6:35489200-35490000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:35489200-35490400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:35489200-35490600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:35489400-35490400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:35489400-35490400	Enhancers	Primary T cells fromperipheralblood	blood

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