Variant report

Variant	rs12205717
Chromosome Location	chr6:24990085-24990086
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24720596..24722709-chr6:24989331..24991417,2	K562	blood:
2	chr6:24858123..24860977-chr6:24989589..24991591,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112308	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10946739	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11758900	0.82[ASN][1000 genomes]
rs12192232	0.91[EUR][1000 genomes]
rs12194111	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1410687	0.85[EUR][1000 genomes]
rs2149452	0.83[EUR][1000 genomes]
rs2209932	0.83[EUR][1000 genomes]
rs2894032	0.84[EUR][1000 genomes]
rs4712870	0.90[EUR][1000 genomes]
rs4712871	0.91[EUR][1000 genomes]
rs4712872	0.91[EUR][1000 genomes]
rs4712876	0.90[EUR][1000 genomes]
rs62401116	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6900169	0.80[EUR][1000 genomes]
rs6935286	0.91[EUR][1000 genomes]
rs7740315	0.89[EUR][1000 genomes]
rs7753740	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7768143	0.91[EUR][1000 genomes]
rs9295639	0.82[EUR][1000 genomes]
rs9295640	0.90[EUR][1000 genomes]
rs9295641	0.90[EUR][1000 genomes]
rs9358816	0.82[EUR][1000 genomes]
rs9366591	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1019504	chr6:24869174-24994758	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv883482	chr6:24926730-25035920	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	nsv1030634	chr6:24938277-25040161	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv830610	chr6:24951741-25124239	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24980200-24990400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr6:24981200-24991800	Weak transcription	Thymus	Thymus
3	chr6:24981800-24990600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:24981800-24992000	Weak transcription	Gastric	stomach
5	chr6:24982200-24991800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:24982400-24991800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:24984200-24995200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:24986000-24996600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:24986400-24992000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:24986400-24992800	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:24986400-24995200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:24986400-24995400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:24986600-24990400	Weak transcription	Fetal Heart	heart
14	chr6:24986600-24991000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:24986600-24992000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:24986600-24996600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:24987200-24990400	Weak transcription	Primary T cells from cord blood	blood
18	chr6:24987400-24990600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:24987600-25000200	Weak transcription	Lung	lung
20	chr6:24987800-24990800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:24988000-24991200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:24988200-24990200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr6:24988200-24990600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:24988200-24991800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:24988400-24992000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:24988800-24990600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:24989000-24990400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr6:24989000-24990400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:24989000-24990600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:24989000-24990800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:24989000-24992000	Weak transcription	Dnd41	blood
32	chr6:24989200-24990400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:24989200-24990400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr6:24989200-24990400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:24989200-24990400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr6:24989200-24990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:24989200-24991200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:24989400-24990400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr6:24989800-24990200	Weak transcription	Stomach Mucosa	stomach
40	chr6:24989800-24991800	Enhancers	Primary B cells from cord blood	blood
41	chr6:24990000-24991800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr6:24990000-24992800	Enhancers	Primary T cells fromperipheralblood	blood

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