Variant report

Variant	rs73515281
Chromosome Location	chr6:119042200-119042201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119033951..119036534-chr6:119040434..119042277,2	K562	blood:
2	chr6:119029491..119033540-chr6:119042019..119045590,4	K562	blood:
3	chr6:119040106..119042403-chr6:119044771..119046416,2	K562	blood:
4	chr6:119026038..119027684-chr6:119041311..119043750,2	K562	blood:
5	chr6:119029491..119032697-chr6:119041414..119044233,4	K562	blood:
6	chr6:119041235..119044070-chr6:119050308..119053179,2	K562	blood:

Variant related genes	Relation type
ENSG00000111860	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17080419	1.00[AMR][1000 genomes]
rs17080446	1.00[AMR][1000 genomes]
rs17080465	1.00[AMR][1000 genomes]
rs17080466	1.00[AMR][1000 genomes]
rs17080469	1.00[AMR][1000 genomes]
rs17080474	1.00[AMR][1000 genomes]
rs17080525	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57378443	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59858756	1.00[AMR][1000 genomes]
rs60456335	1.00[AMR][1000 genomes]
rs61344747	1.00[AMR][1000 genomes]
rs61408707	1.00[AMR][1000 genomes]
rs73515223	1.00[AMR][1000 genomes]
rs73515253	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73515256	1.00[AMR][1000 genomes]
rs73515264	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73515274	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528766	1.00[AMR][1000 genomes]
rs73528768	1.00[AMR][1000 genomes]
rs73528773	1.00[AMR][1000 genomes]
rs73528783	1.00[AMR][1000 genomes]
rs73528784	1.00[AMR][1000 genomes]
rs73528786	1.00[AMR][1000 genomes]
rs73530804	1.00[AMR][1000 genomes]
rs73530824	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119031600-119044400	Weak transcription	Fetal Heart	heart
2	chr6:119031600-119045600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:119039000-119042200	Enhancers	Thymus	Thymus
4	chr6:119039000-119043000	Enhancers	Fetal Thymus	thymus
5	chr6:119039000-119043800	Enhancers	Primary T cells from cord blood	blood
6	chr6:119039000-119043800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr6:119039000-119045000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr6:119039000-119045000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr6:119039000-119046000	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:119039200-119043800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr6:119039400-119043000	Enhancers	Dnd41	blood
12	chr6:119039400-119043200	Enhancers	Primary B cells from cord blood	blood
13	chr6:119039400-119048600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr6:119039600-119042200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:119040800-119043600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:119040800-119043600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:119040800-119043600	Weak transcription	NHLF	lung
18	chr6:119040800-119043800	Weak transcription	NHDF-Ad	bronchial
19	chr6:119040800-119044200	Weak transcription	Psoas Muscle	Psoas
20	chr6:119041000-119044000	Weak transcription	NH-A	brain
21	chr6:119041000-119045600	Weak transcription	Fetal Lung	lung
22	chr6:119041200-119043400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:119041200-119044200	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:119041200-119045600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:119041200-119045600	Weak transcription	K562	blood
26	chr6:119041200-119048200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr6:119041400-119042600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:119041600-119042600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:119041600-119042800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:119041800-119042200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:119041800-119042600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:119042000-119042400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:119042000-119042600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:119042000-119044400	Weak transcription	GM12878-XiMat	blood
35	chr6:119042200-119043000	Enhancers	Spleen	Spleen
36	chr6:119042200-119043600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:119042200-119045600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:119042200-119046800	Weak transcription	Thymus	Thymus

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