Variant report

Variant	rs58510356
Chromosome Location	chr6:118977954-118977955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr6:118977953-118978321	GM12878	blood:	n/a	n/a
2	RUNX3	chr6:118977926-118978359	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:118977517..118980348-chr6:118986192..118988530,2	K562	blood:
2	chr6:118973033..118976583-chr6:118976702..118979971,3	MCF-7	breast:
3	chr6:118972754..118975084-chr6:118976794..118980244,4	K562	blood:
4	chr6:118977602..118979632-chr6:119069204..119070765,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MCM9-2	chr6:118977926-118978284	NONHSAT114697

No data

Variant related genes	Relation type
CEP85L	TF binding region
ENSG00000111860	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs17080221	1.00[AMR][1000 genomes]
rs55761377	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55968023	1.00[AMR][1000 genomes]
rs56007878	1.00[AMR][1000 genomes]
rs56057396	1.00[AMR][1000 genomes]
rs56242764	1.00[AMR][1000 genomes]
rs56259947	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57161631	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57622287	1.00[AMR][1000 genomes]
rs58070035	1.00[AMR][1000 genomes]
rs59685154	1.00[AMR][1000 genomes]
rs59715007	1.00[AMR][1000 genomes]
rs60606021	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60630459	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766505	1.00[AMR][1000 genomes]
rs73766506	1.00[AMR][1000 genomes]
rs73766507	1.00[AMR][1000 genomes]
rs73766508	1.00[AMR][1000 genomes]
rs73766509	1.00[AMR][1000 genomes]
rs73766511	1.00[AMR][1000 genomes]
rs73766513	1.00[AMR][1000 genomes]
rs73766536	1.00[AMR][1000 genomes]
rs73766541	1.00[AMR][1000 genomes]
rs73766547	1.00[AMR][1000 genomes]
rs73766558	1.00[AMR][1000 genomes]
rs73766561	1.00[AMR][1000 genomes]
rs73766562	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766563	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766564	1.00[AMR][1000 genomes]
rs73766571	1.00[AMR][1000 genomes]
rs73766572	1.00[AMR][1000 genomes]
rs73766575	1.00[AMR][1000 genomes]
rs73766576	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766579	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766582	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766587	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766588	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766589	1.00[AMR][1000 genomes]
rs73766591	1.00[AMR][1000 genomes]
rs73766593	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766602	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768507	0.87[AFR][1000 genomes]
rs73768508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768523	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768526	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768532	1.00[AMR][1000 genomes]
rs73768534	1.00[AMR][1000 genomes]
rs73768543	1.00[AMR][1000 genomes]
rs73768544	1.00[AMR][1000 genomes]
rs73768545	1.00[AMR][1000 genomes]
rs73768546	1.00[AMR][1000 genomes]
rs73768547	1.00[AMR][1000 genomes]
rs73768548	1.00[AMR][1000 genomes]
rs73768687	1.00[AMR][1000 genomes]
rs73768688	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
18	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118973400-118980800	Weak transcription	HSMM	muscle
2	chr6:118973400-118988800	Weak transcription	NH-A	brain
3	chr6:118973600-118978000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:118973600-118978400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:118973600-118978600	Weak transcription	Psoas Muscle	Psoas
6	chr6:118973600-118979000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr6:118973600-118980600	Weak transcription	NHLF	lung
8	chr6:118973600-118980800	Weak transcription	Pancreas	Pancrea
9	chr6:118973600-118981200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr6:118973600-118981400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:118973600-118983000	Weak transcription	Primary B cells from cord blood	blood
12	chr6:118973600-118983400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:118973600-118989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:118973800-118978000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:118974800-118979000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr6:118975600-118979000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:118975800-118978000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr6:118975800-118979000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:118975800-118979400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:118976000-118978000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr6:118976200-118979000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr6:118976200-118979400	Enhancers	Primary T cells from cord blood	blood
23	chr6:118976400-118978000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:118976400-118978000	Enhancers	Thymus	Thymus
25	chr6:118976400-118979000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr6:118976800-118978600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr6:118977200-118978200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:118977200-118979000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:118977400-118978000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr6:118977600-118978000	Enhancers	Dnd41	blood
31	chr6:118977600-118978200	Enhancers	Primary hematopoietic stem cells	blood
32	chr6:118977600-118978600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr6:118977600-118978600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:118977800-118978200	Flanking Active TSS	Fetal Thymus	thymus

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