Variant report

Variant	rs1496335
Chromosome Location	chr5:92414774-92414775
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	chr5:92405044..92407618-chr5:92412622..92415093,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10463178	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10463225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10463226	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10514372	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11135563	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12656521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13161302	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13163742	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13181580	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13185751	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13188341	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1353492	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1353493	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1353494	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1496333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1496334	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1566032	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17082892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17082905	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1908713	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34075229	0.83[ASN][1000 genomes]
rs34132263	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34159272	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34165396	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34262922	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34416809	0.86[AMR][1000 genomes]
rs35117985	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35527617	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35975963	0.86[AMR][1000 genomes]
rs3843486	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3843487	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3843488	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4305632	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4309956	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4485910	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4502796	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4869409	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4869410	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62366831	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6875964	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1022712	chr5:92191693-92415111	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1028930	chr5:92194772-92415111	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830399	chr5:92290915-92462490	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92413000-92415200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:92413000-92415800	Enhancers	HSMMtube	muscle
3	chr5:92413200-92415200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:92413200-92415200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:92413400-92414800	Flanking Active TSS	GM12878-XiMat	blood
6	chr5:92413400-92415000	Enhancers	Ovary	ovary
7	chr5:92413800-92415000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:92413800-92415000	Flanking Active TSS	NH-A	brain
9	chr5:92413800-92415200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:92413800-92415200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:92413800-92415200	Enhancers	Fetal Heart	heart
12	chr5:92414000-92415000	Enhancers	Fetal Kidney	kidney
13	chr5:92414000-92415000	Flanking Active TSS	HUVEC	blood vessel
14	chr5:92414000-92415200	Enhancers	Adipose Nuclei	Adipose
15	chr5:92414000-92415200	Enhancers	Right Atrium	heart
16	chr5:92414000-92415200	Enhancers	NHEK	skin
17	chr5:92414200-92414800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:92414200-92414800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:92414200-92414800	Active TSS	A549	lung
20	chr5:92414200-92414800	Flanking Active TSS	Hela-S3	cervix
21	chr5:92414200-92415000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:92414200-92415000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:92414200-92415000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:92414200-92415000	Enhancers	Fetal Muscle Leg	muscle
25	chr5:92414200-92415000	Flanking Active TSS	HepG2	liver
26	chr5:92414200-92415000	Flanking Active TSS	HMEC	breast
27	chr5:92414400-92415000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr5:92414400-92415000	Enhancers	Spleen	Spleen
29	chr5:92414400-92415000	Flanking Active TSS	NHDF-Ad	bronchial
30	chr5:92414400-92415200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:92414400-92415200	Enhancers	Liver	Liver
32	chr5:92414600-92414800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:92414600-92414800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:92414600-92414800	Enhancers	Brain Angular Gyrus	brain
35	chr5:92414600-92414800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr5:92414600-92414800	Enhancers	HSMM	muscle
37	chr5:92414600-92414800	Enhancers	NHLF	lung
38	chr5:92414600-92415000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:92414600-92415000	Enhancers	Brain Anterior Caudate	brain
40	chr5:92414600-92415000	Enhancers	Brain Cingulate Gyrus	brain
41	chr5:92414600-92415000	Enhancers	Brain Hippocampus Middle	brain
42	chr5:92414600-92415000	Enhancers	Brain Substantia Nigra	brain
43	chr5:92414600-92415000	Enhancers	Fetal Lung	lung
44	chr5:92414600-92415000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr5:92414600-92415200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:92414600-92415200	Enhancers	Osteobl	bone

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