Variant report

Variant	rs10519658
Chromosome Location	chr4:143336138-143336139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143326578..143329374-chr4:143334403..143336752,2	MCF-7	breast:
2	chr4:143334587..143337797-chr4:143392954..143395413,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10519654	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs1489579	0.84[ASW][hapmap];1.00[AMR][1000 genomes]
rs16998546	1.00[AMR][1000 genomes]
rs17016047	0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17016073	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17016097	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28361347	1.00[AMR][1000 genomes]
rs28552507	1.00[AMR][1000 genomes]
rs55734648	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55924247	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58466279	1.00[AMR][1000 genomes]
rs59339281	1.00[AMR][1000 genomes]
rs60408738	1.00[AMR][1000 genomes]
rs61368063	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61643803	1.00[AMR][1000 genomes]
rs6845221	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs72941201	1.00[AMR][1000 genomes]
rs72944962	1.00[AMR][1000 genomes]
rs72944976	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs881611	0.87[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143328600-143336400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr4:143329000-143336200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr4:143329000-143336600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr4:143329000-143338200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:143329000-143350000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:143329800-143337200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:143330000-143337400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:143330000-143338000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:143330200-143344800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:143330400-143337400	Weak transcription	NHDF-Ad	bronchial
11	chr4:143331400-143337800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:143331600-143336400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr4:143332200-143336600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:143333000-143336600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:143333600-143336600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:143333800-143336600	Enhancers	HMEC	breast
17	chr4:143334000-143336400	Enhancers	HSMMtube	muscle
18	chr4:143334200-143336400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:143334200-143337400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:143334400-143336200	Enhancers	NHEK	skin
21	chr4:143334400-143337400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:143334600-143336600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:143334800-143337200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:143334800-143339200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:143335000-143336200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:143335000-143336400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:143335000-143337200	Weak transcription	Primary T cells from cord blood	blood
28	chr4:143335000-143337200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:143335000-143337400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:143335200-143336200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:143335200-143336400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:143335200-143337200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr4:143335200-143337400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:143335200-143337600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:143335600-143336200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr4:143335600-143336200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:143335600-143336400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:143335600-143336400	Enhancers	Brain Germinal Matrix	brain
39	chr4:143335600-143336600	Enhancers	Fetal Brain Male	brain
40	chr4:143335600-143337400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:143335800-143336400	Enhancers	Fetal Brain Female	brain
42	chr4:143335800-143336400	Enhancers	Fetal Muscle Leg	muscle
43	chr4:143335800-143336400	Enhancers	HSMM	muscle
44	chr4:143335800-143337800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:143335800-143338000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:143336000-143337200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr4:143336000-143338400	Weak transcription	Left Ventricle	heart
48	chr4:143336000-143341000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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