Variant report

Variant	rs2064524
Chromosome Location	chr6:24919115-24919116
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	chr6:24910942..24913335-chr6:24918029..24919566,2	K562	blood:

Variant related genes	Relation type
ENSG00000111913	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2207399	0.89[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2493331	0.86[ASN][1000 genomes]
rs2747674	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2747675	0.90[CHB][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs2747676	0.90[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2747677	0.92[CEU][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2817725	0.84[JPT][hapmap]
rs2817731	0.90[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2817733	0.90[ASN][1000 genomes]
rs932494	0.89[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24912400-24919200	Weak transcription	Left Ventricle	heart
2	chr6:24912400-24919600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:24912400-24926600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:24912600-24919400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:24913400-24922200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:24913600-24927400	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr6:24914200-24919200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:24914600-24920000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr6:24915800-24919200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:24916000-24919400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:24916000-24922000	Genic enhancers	Primary monocytes fromperipheralblood	blood
12	chr6:24917000-24919200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr6:24917600-24919200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
14	chr6:24917600-24921400	Enhancers	Brain Germinal Matrix	brain
15	chr6:24917600-24922000	Enhancers	Fetal Muscle Leg	muscle
16	chr6:24917800-24921200	Enhancers	Psoas Muscle	Psoas
17	chr6:24918200-24919200	Enhancers	Thymus	Thymus
18	chr6:24918200-24920200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:24918200-24920600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:24918200-24920600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:24918200-24920600	Enhancers	Fetal Stomach	stomach
22	chr6:24918200-24921200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:24918200-24921200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:24918200-24921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:24918200-24921600	Enhancers	Primary hematopoietic stem cells	blood
26	chr6:24918200-24921800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr6:24918200-24922600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:24918400-24919200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:24918400-24920200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:24918400-24921000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:24918600-24919200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:24918600-24919200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:24918600-24920000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:24918600-24920600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:24918600-24920800	Enhancers	HSMM	muscle
36	chr6:24918600-24921200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr6:24918600-24921200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:24918600-24921200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr6:24918600-24921400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr6:24918600-24921800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:24918800-24919400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
42	chr6:24918800-24919400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:24918800-24919400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr6:24918800-24919600	Flanking Active TSS	HSMMtube	muscle
45	chr6:24918800-24919800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:24918800-24919800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:24918800-24919800	Flanking Active TSS	Fetal Thymus	thymus
48	chr6:24918800-24920000	Enhancers	Adipose Nuclei	Adipose
49	chr6:24918800-24920000	Enhancers	Rectal Smooth Muscle	rectum
50	chr6:24918800-24920200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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