Variant report

Variant	rs10057719
Chromosome Location	chr5:108388349-108388350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr5:108388211-108388425	HepG2	liver:	n/a	chr5:108388310-108388325 chr5:108388332-108388343 chr5:108388332-108388343 chr5:108388333-108388344 chr5:108388331-108388345
2	POLR2A	chr5:108386147-108388467	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:108387393-108388393	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GJA1P1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11951976	1.00[JPT][hapmap]
rs17407366	0.85[JPT][hapmap]
rs2228972	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702981	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709144	1.00[CHB][hapmap]
rs7719329	0.85[JPT][hapmap]

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:67 , 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	chr5:108365600-108389400	Weak transcription	HepG2	liver
13	chr5:108372600-108389800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:108374000-108388600	Weak transcription	Fetal Kidney	kidney
15	chr5:108374000-108388800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:108374800-108390000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:108376000-108390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:108376400-108389000	Weak transcription	Primary T cells from cord blood	blood
19	chr5:108376400-108392600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:108377000-108399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:108377400-108389000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:108380000-108389200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:108380000-108391200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:108380400-108389000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr5:108381000-108388400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:108381000-108389400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr5:108381400-108389800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:108381800-108388600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr5:108382000-108389800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:108382400-108389000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:108383600-108389600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:108386200-108389000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:108386200-108389800	Weak transcription	Osteobl	bone
34	chr5:108386200-108390000	Weak transcription	NHDF-Ad	bronchial
35	chr5:108386200-108390400	Weak transcription	Fetal Intestine Large	intestine
36	chr5:108386400-108390000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:108386600-108389000	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:108387000-108388400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:108387000-108388800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:108387000-108389200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr5:108387200-108388400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:108387200-108388800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:108387400-108389600	Weak transcription	GM12878-XiMat	blood
44	chr5:108387600-108388400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:108387600-108388800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:108387600-108389600	Weak transcription	Fetal Brain Female	brain
47	chr5:108387600-108395200	Weak transcription	Fetal Stomach	stomach
48	chr5:108387800-108388400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:108387800-108394800	Weak transcription	Left Ventricle	heart
50	chr5:108388000-108389600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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