Variant report

Variant	rs12527303
Chromosome Location	chr6:35487734-35487735
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	chr6:35487089..35488630-chr6:35488865..35490692,2	K562	blood:
3	chr6:35464547..35467801-chr6:35485995..35490662,5	MCF-7	breast:
4	chr6:35462380..35467433-chr6:35484911..35489402,9	MCF-7	breast:
5	chr6:35477055..35480023-chr6:35485694..35489430,3	K562	blood:

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

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10498734	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11545925	0.89[EUR][1000 genomes]
rs12526404	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12527329	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12527893	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12528458	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529688	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12665445	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1334894	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16877540	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1807142	0.89[EUR][1000 genomes]
rs1883637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1977654	0.89[EUR][1000 genomes]
rs1977655	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103680	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294807	0.89[EUR][1000 genomes]
rs55791123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55922240	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56060039	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56062505	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56313753	1.00[AFR][1000 genomes]
rs56318292	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs56353810	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6906096	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894778	1.00[ASN][1000 genomes]
rs72894781	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894784	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72896709	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72899748	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72899772	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72899794	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72899796	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72911380	0.85[EUR][1000 genomes]
rs72911394	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72911397	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72913405	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72913412	0.85[EUR][1000 genomes]
rs72913417	0.89[EUR][1000 genomes]
rs72913423	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72913427	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72921231	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs747411	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs755658	0.87[EUR][1000 genomes]
rs7754668	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7756437	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7765792	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7768598	0.91[EUR][1000 genomes]
rs9688674	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9689799	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][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:26 , 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	chr6:35482400-35489000	Enhancers	Placenta	Placenta
5	chr6:35484600-35490400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:35484800-35489200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:35487200-35487800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:35487200-35487800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:35487200-35487800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:35487200-35488000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr6:35487200-35488000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:35487200-35488000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:35487200-35488000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:35487200-35488000	Enhancers	HepG2	liver
15	chr6:35487200-35488000	Enhancers	HMEC	breast
16	chr6:35487200-35488600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:35487400-35487800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr6:35487400-35487800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:35487400-35488000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:35487400-35488000	Enhancers	NHEK	skin
21	chr6:35487400-35489600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:35487600-35487800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr6:35487600-35488000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:35487600-35490400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:35487600-35490400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:35487600-35490600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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