Variant report

Variant	rs2817729
Chromosome Location	chr6:24909729-24909730
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	chr6:24905708..24907568-chr6:24908173..24910431,2	K562	blood:
2	chr6:24909068..24910634-chr6:24911078..24913760,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111913	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2493331	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2817722	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2817727	0.84[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	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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24900200-24909800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:24905000-24910800	Weak transcription	Aorta	Aorta
3	chr6:24907600-24910000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:24907600-24910000	Enhancers	Fetal Thymus	thymus
5	chr6:24907800-24909800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:24907800-24910000	Enhancers	Fetal Stomach	stomach
7	chr6:24907800-24910400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:24907800-24911200	Flanking Active TSS	GM12878-XiMat	blood
9	chr6:24908000-24910000	Enhancers	Thymus	Thymus
10	chr6:24908000-24910400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:24908000-24910800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr6:24908000-24911200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr6:24908000-24912200	Active TSS	HSMMtube	muscle
14	chr6:24908200-24909800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:24908200-24910800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr6:24908200-24911200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr6:24908200-24912600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:24908400-24910000	Enhancers	Primary hematopoietic stem cells	blood
19	chr6:24908400-24910400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:24908400-24911000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr6:24908600-24910400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:24908600-24911000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:24908600-24913200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
24	chr6:24908600-24913600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
25	chr6:24908800-24909800	Flanking Active TSS	Osteobl	bone
26	chr6:24908800-24910000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr6:24908800-24910000	Enhancers	NHLF	lung
28	chr6:24908800-24910200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:24908800-24910200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:24908800-24910600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
31	chr6:24908800-24910600	Enhancers	Spleen	Spleen
32	chr6:24908800-24911000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:24908800-24911200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:24908800-24911600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr6:24909000-24909800	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr6:24909000-24910000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:24909000-24910400	Flanking Active TSS	NHDF-Ad	bronchial
38	chr6:24909000-24910600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
39	chr6:24909000-24911800	Active TSS	Brain Angular Gyrus	brain
40	chr6:24909000-24913400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
41	chr6:24909200-24909800	Flanking Active TSS	HSMM	muscle
42	chr6:24909200-24910800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:24909200-24910800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr6:24909200-24910800	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr6:24909200-24911800	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr6:24909200-24912200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:24909400-24909800	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr6:24909400-24909800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr6:24909400-24909800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr6:24909400-24909800	Enhancers	Left Ventricle	heart

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