Variant report

Variant	rs72996290
Chromosome Location	chr6:131100035-131100036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131068465..131070607-chr6:131098057..131100480,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10485095	0.96[ASN][1000 genomes]
rs17059420	1.00[EUR][1000 genomes]
rs17059453	1.00[EUR][1000 genomes]
rs17059482	0.93[ASN][1000 genomes]
rs17059490	0.93[ASN][1000 genomes]
rs17059520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17059525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55925405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56275069	0.93[ASN][1000 genomes]
rs56684748	1.00[EUR][1000 genomes]
rs56725541	1.00[EUR][1000 genomes]
rs56771583	1.00[EUR][1000 genomes]
rs72992244	1.00[EUR][1000 genomes]
rs72992266	1.00[EUR][1000 genomes]
rs72992272	1.00[EUR][1000 genomes]
rs72992280	1.00[EUR][1000 genomes]
rs72992285	1.00[EUR][1000 genomes]
rs72992289	1.00[EUR][1000 genomes]
rs72992294	1.00[EUR][1000 genomes]
rs72992295	1.00[EUR][1000 genomes]
rs72992299	1.00[EUR][1000 genomes]
rs72994307	1.00[EUR][1000 genomes]
rs72994310	1.00[EUR][1000 genomes]
rs72994322	1.00[EUR][1000 genomes]
rs72994328	1.00[EUR][1000 genomes]
rs72996238	0.96[ASN][1000 genomes]
rs72996241	0.99[ASN][1000 genomes]
rs72996247	0.97[ASN][1000 genomes]
rs72996254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72996263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72996267	0.96[ASN][1000 genomes]
rs72996271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72996293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv604664	chr6:131004998-131115817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025019	chr6:131074711-131116070	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv604665	chr6:131077027-131115817	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv604666	chr6:131078180-131122295	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131097800-131100200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr6:131098200-131100200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr6:131098200-131100400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:131099200-131100800	Enhancers	Dnd41	blood
5	chr6:131099600-131101600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:131099800-131100200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:131099800-131100200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr6:131099800-131100200	Flanking Active TSS	NHDF-Ad	bronchial
9	chr6:131099800-131100600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:131099800-131100600	Weak transcription	Fetal Thymus	thymus
11	chr6:131099800-131100600	Enhancers	NH-A	brain
12	chr6:131099800-131100800	Enhancers	Primary hematopoietic stem cells	blood
13	chr6:131099800-131100800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:131099800-131100800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:131099800-131100800	Flanking Active TSS	Osteobl	bone
16	chr6:131099800-131101000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:131099800-131101000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:131099800-131101200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:131099800-131101600	Enhancers	Colon Smooth Muscle	Colon
20	chr6:131099800-131103200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr6:131099800-131103600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:131099800-131103800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr6:131100000-131100200	Flanking Active TSS	HSMM	muscle
24	chr6:131100000-131100400	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr6:131100000-131100400	Enhancers	HSMMtube	muscle
26	chr6:131100000-131100600	Active TSS	Adipose Nuclei	Adipose
27	chr6:131100000-131100600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr6:131100000-131101200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr6:131100000-131101400	Enhancers	Rectal Smooth Muscle	rectum
30	chr6:131100000-131101600	Enhancers	Fetal Stomach	stomach
31	chr6:131100000-131101600	Enhancers	NHLF	lung
32	chr6:131100000-131103600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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