Variant report

Variant	rs1427863
Chromosome Location	chr5:108365161-108365162
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:108365078..108368693-chr5:108374939..108378491,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11958509	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17161586	0.81[YRI][hapmap]
rs2043287	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];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs4421154	0.84[AMR][1000 genomes]
rs7706103	0.92[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs892009	0.84[CHB][hapmap];0.93[JPT][hapmap];0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs9326757	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[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	nsv882691	chr5:108229760-108366473	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv4952	chr5:108324146-108369353	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108350800-108390400	Weak transcription	HSMMtube	muscle
2	chr5:108352400-108381400	Weak transcription	Fetal Lung	lung
3	chr5:108356000-108399000	Weak transcription	HSMM	muscle
4	chr5:108356400-108389200	Weak transcription	Primary B cells from cord blood	blood
5	chr5:108358000-108366400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:108358400-108366600	Weak transcription	Esophagus	oesophagus
7	chr5:108360200-108374000	Weak transcription	HUVEC	blood vessel
8	chr5:108360400-108366000	Weak transcription	Fetal Heart	heart
9	chr5:108360400-108366200	Weak transcription	Left Ventricle	heart
10	chr5:108360400-108366600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:108360400-108367400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:108360400-108369000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:108360400-108371400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:108360400-108373400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:108360400-108381200	Weak transcription	Adipose Nuclei	Adipose
16	chr5:108360400-108389000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:108360400-108389400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:108360400-108389600	Weak transcription	Brain Angular Gyrus	brain
19	chr5:108360400-108389800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:108360400-108389800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:108360400-108400400	Weak transcription	NHEK	skin
22	chr5:108360400-108404800	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:108360400-108425200	Weak transcription	Aorta	Aorta
24	chr5:108360600-108365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:108360600-108366200	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:108360600-108382400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:108360600-108385000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:108363200-108367000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:108363400-108365200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:108363400-108366000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:108364000-108365600	Enhancers	HepG2	liver
32	chr5:108364600-108366000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:108364600-108374000	Weak transcription	A549	lung
34	chr5:108364800-108368800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:108364800-108368800	Weak transcription	NHDF-Ad	bronchial
36	chr5:108364800-108370000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:108364800-108370800	Weak transcription	Osteobl	bone
38	chr5:108364800-108371000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr5:108365000-108365600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:108365000-108366600	Enhancers	GM12878-XiMat	blood

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