Variant report

Variant	rs10069295
Chromosome Location	chr5:124393287-124393288
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	chr5:124385684..124387313-chr5:124391971..124393955,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10036117	1.00[TSI][hapmap]
rs10051837	1.00[ASN][1000 genomes]
rs10061112	0.95[AFR][1000 genomes]
rs10067540	1.00[ASN][1000 genomes]
rs10069495	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070651	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070961	1.00[ASN][1000 genomes]
rs10071979	1.00[ASN][1000 genomes]
rs10072930	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13169162	1.00[ASN][1000 genomes]
rs13359584	1.00[ASN][1000 genomes]
rs28484892	1.00[ASN][1000 genomes]
rs28887500	1.00[ASN][1000 genomes]
rs56111606	1.00[ASN][1000 genomes]
rs57050857	1.00[ASN][1000 genomes]
rs60700802	1.00[ASN][1000 genomes]
rs6860106	1.00[ASN][1000 genomes]
rs6867459	1.00[ASN][1000 genomes]
rs6881063	0.95[AFR][1000 genomes]
rs6883243	1.00[ASN][1000 genomes]
rs6887240	1.00[ASN][1000 genomes]
rs72785245	1.00[ASN][1000 genomes]
rs72785247	1.00[ASN][1000 genomes]
rs72785252	1.00[ASN][1000 genomes]
rs73782570	1.00[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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv4984	chr5:124377028-124401500	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124382800-124394200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:124382800-124394200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:124388400-124396400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:124388400-124396400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:124388600-124395000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:124389600-124396200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:124390600-124396400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:124390800-124395400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:124391200-124396000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:124391600-124396000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:124391600-124396200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:124391600-124398000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:124391800-124396400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:124392000-124395800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:124392200-124393400	Enhancers	Fetal Stomach	stomach
16	chr5:124392200-124394000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr5:124392200-124394200	Enhancers	Brain Hippocampus Middle	brain
18	chr5:124392200-124394600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:124392200-124395600	Enhancers	HMEC	breast
20	chr5:124392200-124395600	Enhancers	Osteobl	bone
21	chr5:124392200-124396000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:124392200-124396400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:124392400-124394000	Enhancers	Fetal Lung	lung
24	chr5:124392400-124394400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:124392400-124394600	Enhancers	Brain Substantia Nigra	brain
26	chr5:124392400-124395000	Enhancers	Fetal Brain Female	brain
27	chr5:124392400-124395200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:124392400-124395200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:124392400-124395400	Enhancers	Brain Germinal Matrix	brain
30	chr5:124392400-124395600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:124392400-124395600	Enhancers	Fetal Kidney	kidney
32	chr5:124392400-124396000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:124392600-124393800	Weak transcription	Colon Smooth Muscle	Colon
34	chr5:124392600-124394200	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:124392600-124394400	Enhancers	Fetal Brain Male	brain
36	chr5:124392600-124394800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:124392600-124395600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:124392800-124393800	Weak transcription	Brain Angular Gyrus	brain
39	chr5:124392800-124393800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:124392800-124393800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:124392800-124394200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr5:124392800-124394600	Enhancers	Adipose Nuclei	Adipose
43	chr5:124393000-124394000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:124393000-124394000	Weak transcription	Right Atrium	heart
45	chr5:124393000-124394200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:124393000-124394200	Enhancers	Brain Anterior Caudate	brain
47	chr5:124393000-124395000	Weak transcription	Left Ventricle	heart
48	chr5:124393000-124396000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:124393200-124393400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr5:124393200-124394200	Weak transcription	NHEK	skin

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