Variant report

Variant	rs9348756
Chromosome Location	chr6:27228259-27228260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27217610..27222450-chr6:27225253..27232198,9	MCF-7	breast:
2	chr6:27223122..27224821-chr6:27228134..27229686,2	MCF-7	breast:
3	chr6:27226313..27228552-chr6:27231256..27233186,2	MCF-7	breast:
4	chr6:27226861..27228443-chr6:27230565..27232578,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112812	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1062834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10946906	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1102557	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12153912	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12189835	1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12189964	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12191280	1.00[JPT][hapmap]
rs12192049	1.00[JPT][hapmap]
rs12193820	1.00[JPT][hapmap]
rs12194893	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs12195360	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12196084	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12196889	0.81[EUR][1000 genomes]
rs12198077	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12201774	1.00[JPT][hapmap]
rs12203728	1.00[JPT][hapmap]
rs12204768	1.00[JPT][hapmap]
rs12205628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205921	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs12207614	0.80[EUR][1000 genomes]
rs12209393	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs12209429	1.00[JPT][hapmap]
rs12209456	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs12209800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12210905	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12213361	0.81[EUR][1000 genomes]
rs12214930	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs28410967	0.81[ASN][1000 genomes]
rs3531	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs3800310	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3922717	1.00[JPT][hapmap]
rs4636015	1.00[JPT][hapmap]
rs5030955	1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5030958	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67310631	0.81[EUR][1000 genomes]
rs6902012	1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6917419	1.00[JPT][hapmap]
rs6931711	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6938397	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6940638	1.00[JPT][hapmap]
rs72839451	0.81[ASN][1000 genomes]
rs72843607	1.00[AFR][1000 genomes]
rs72843609	0.81[EUR][1000 genomes]
rs72843611	0.81[EUR][1000 genomes]
rs72843613	0.81[EUR][1000 genomes]
rs72843615	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72843619	0.80[EUR][1000 genomes]
rs72843622	0.83[EUR][1000 genomes]
rs72843629	0.82[EUR][1000 genomes]
rs72843633	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72843640	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72843641	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72843643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7756481	1.00[JPT][hapmap]
rs858984	1.00[JPT][hapmap]
rs858985	1.00[JPT][hapmap]
rs858986	1.00[JPT][hapmap]
rs858989	1.00[JPT][hapmap]
rs858992	1.00[JPT][hapmap]
rs858995	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9348757	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9348758	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9348759	1.00[JPT][hapmap]
rs9357034	0.85[EUR][1000 genomes]
rs9366690	1.00[JPT][hapmap]
rs9368492	0.83[EUR][1000 genomes]
rs9368493	0.85[EUR][1000 genomes]
rs9368494	0.83[EUR][1000 genomes]
rs9368498	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9368499	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9368500	1.00[JPT][hapmap]
rs9379965	0.83[EUR][1000 genomes]
rs9379967	0.83[EUR][1000 genomes]
rs9379970	1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9379975	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs9393796	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9393802	1.00[JPT][hapmap]
rs9393803	1.00[JPT][hapmap];0.91[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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27220600-27231600	Weak transcription	K562	blood
2	chr6:27221000-27228800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:27226200-27228600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:27227600-27229600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:27227800-27228400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:27227800-27229400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr6:27228000-27228600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:27228000-27228800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:27228000-27229200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr6:27228000-27229200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr6:27228000-27229400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:27228000-27229600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:27228000-27229600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:27228000-27229600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:27228000-27229800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:27228000-27229800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:27228000-27229800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:27228000-27229800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr6:27228200-27228400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:27228200-27228400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:27228200-27228400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:27228200-27228400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
23	chr6:27228200-27228400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:27228200-27228400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:27228200-27228400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:27228200-27228400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:27228200-27228400	Bivalent Enhancer	Fetal Lung	lung
28	chr6:27228200-27228400	Bivalent Enhancer	Ovary	ovary
29	chr6:27228200-27228600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:27228200-27228600	Bivalent/Poised TSS	Placenta	Placenta
31	chr6:27228200-27228800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:27228200-27228800	Bivalent Enhancer	Brain Hippocampus Middle	brain
33	chr6:27228200-27229000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:27228200-27229000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:27228200-27229000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:27228200-27229000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:27228200-27229200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr6:27228200-27229400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:27228200-27229400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr6:27228200-27229600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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