Variant report

Variant	rs13184427
Chromosome Location	chr5:80531001-80531002
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	chr5:80530046..80533018-chr5:80537820..80540645,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248794	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10036376	1.00[JPT][hapmap]
rs10514215	1.00[JPT][hapmap]
rs13159978	0.88[AMR][1000 genomes]
rs13160378	0.92[ASN][1000 genomes]
rs13187211	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16878563	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16878572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17294956	1.00[JPT][hapmap]
rs2270825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2406555	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34198027	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34378267	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34755999	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35244045	0.92[ASN][1000 genomes]
rs35646117	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35813740	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35864788	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6859306	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs6872504	0.88[AMR][1000 genomes]
rs6899067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs750728	1.00[JPT][hapmap]
rs7725743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs976741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80526600-80531200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:80527000-80546200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:80528000-80564400	Weak transcription	Hela-S3	cervix
4	chr5:80528200-80531800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr5:80528400-80531600	Enhancers	Spleen	Spleen
6	chr5:80528600-80531400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr5:80528600-80531600	Enhancers	Fetal Thymus	thymus
8	chr5:80528600-80532000	Enhancers	Lung	lung
9	chr5:80528800-80531400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:80528800-80531400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr5:80529400-80531400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:80529400-80531600	Weak transcription	Gastric	stomach
13	chr5:80529400-80531800	Weak transcription	Fetal Brain Female	brain
14	chr5:80529400-80532400	Weak transcription	Placenta	Placenta
15	chr5:80529400-80532400	Active TSS	Right Ventricle	heart
16	chr5:80529400-80535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:80529400-80540800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:80529400-80541000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:80529400-80543400	Weak transcription	NHLF	lung
20	chr5:80529400-80544200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:80529400-80549400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:80529600-80531200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr5:80529600-80531200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:80529600-80531200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:80529600-80531200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:80529600-80531200	Weak transcription	Fetal Lung	lung
27	chr5:80529600-80531200	Enhancers	HepG2	liver
28	chr5:80529600-80531200	Weak transcription	K562	blood
29	chr5:80529600-80531400	Weak transcription	Stomach Mucosa	stomach
30	chr5:80529600-80532000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:80529600-80532200	Enhancers	Adipose Nuclei	Adipose
32	chr5:80529600-80532400	Enhancers	Brain Anterior Caudate	brain
33	chr5:80529600-80535000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:80529600-80541000	Weak transcription	Fetal Intestine Large	intestine
35	chr5:80529600-80542800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:80529600-80545800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:80529800-80531200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:80529800-80531200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:80529800-80531200	Enhancers	Aorta	Aorta
40	chr5:80529800-80531800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr5:80529800-80531800	Enhancers	HSMMtube	muscle
42	chr5:80529800-80532200	Enhancers	Ovary	ovary
43	chr5:80529800-80532400	Enhancers	Brain Angular Gyrus	brain
44	chr5:80529800-80533000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
45	chr5:80530000-80531200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:80530000-80531200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr5:80530000-80531400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr5:80530000-80531600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:80530000-80531600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:80530000-80531800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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