Variant report

Variant	rs2043287
Chromosome Location	chr5:108381927-108381928
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	chr5:108082931..108085410-chr5:108380605..108382317,2	K562	blood:

Variant related genes	Relation type
ENSG00000151422	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10040665	0.88[JPT][hapmap]
rs10061582	0.82[ASN][1000 genomes]
rs10069467	0.87[JPT][hapmap]
rs10076453	0.88[JPT][hapmap]
rs10477438	0.87[JPT][hapmap]
rs1159990	0.82[JPT][hapmap]
rs11958509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1427863	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2416195	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[ASN][1000 genomes]
rs3797838	0.92[YRI][hapmap]
rs4957797	0.82[JPT][hapmap]
rs6861439	0.80[ASN][1000 genomes]
rs7706103	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7726922	0.82[ASN][1000 genomes]
rs892009	1.00[ASW][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9326757	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830443	chr5:108326491-108496723	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108350800-108390400	Weak transcription	HSMMtube	muscle
2	chr5:108356000-108399000	Weak transcription	HSMM	muscle
3	chr5:108356400-108389200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:108360400-108389000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:108360400-108389400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:108360400-108389600	Weak transcription	Brain Angular Gyrus	brain
7	chr5:108360400-108389800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:108360400-108389800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:108360400-108400400	Weak transcription	NHEK	skin
10	chr5:108360400-108404800	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:108360400-108425200	Weak transcription	Aorta	Aorta
12	chr5:108360600-108382400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:108360600-108385000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:108365600-108389400	Weak transcription	HepG2	liver
15	chr5:108366600-108387200	Weak transcription	GM12878-XiMat	blood
16	chr5:108367000-108387000	Weak transcription	Left Ventricle	heart
17	chr5:108368800-108387400	Weak transcription	Pancreas	Pancrea
18	chr5:108371200-108387400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:108371600-108387600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:108372600-108389800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:108372800-108385200	Weak transcription	NHDF-Ad	bronchial
22	chr5:108373000-108385000	Weak transcription	Lung	lung
23	chr5:108373600-108387000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:108374000-108388600	Weak transcription	Fetal Kidney	kidney
25	chr5:108374000-108388800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:108374800-108390000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:108376000-108390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:108376400-108389000	Weak transcription	Primary T cells from cord blood	blood
29	chr5:108376400-108392600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:108377000-108399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:108377400-108389000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:108380000-108387000	Weak transcription	Fetal Muscle Leg	muscle
33	chr5:108380000-108389200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:108380000-108391200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:108380400-108389000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:108381000-108382000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:108381000-108383600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr5:108381000-108388400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:108381000-108389400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr5:108381400-108382000	Enhancers	Fetal Lung	lung
41	chr5:108381400-108387200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:108381400-108387400	Weak transcription	Right Ventricle	heart
43	chr5:108381400-108387400	Weak transcription	Dnd41	blood
44	chr5:108381400-108387600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:108381400-108389800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:108381600-108382800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:108381600-108384800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:108381600-108384800	Weak transcription	NHLF	lung
49	chr5:108381600-108385000	Weak transcription	Osteobl	bone
50	chr5:108381600-108387200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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