Variant report

Variant	rs12522231
Chromosome Location	chr5:167727073-167727074
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	chr5:167726541..167728252-chr5:167728625..167731366,2	MCF-7	breast:
2	chr5:167726332..167731754-chr5:167740281..167744760,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10051069	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10475874	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12108717	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12514628	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12517127	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519918	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17051843	0.83[EUR][1000 genomes]
rs17632741	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72822615	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72838318	0.93[ASN][1000 genomes]
rs72838320	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72838323	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72838333	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72838335	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718390	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7721532	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][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	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv5119	chr5:167724987-167766076	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167722800-167729200	Weak transcription	Esophagus	oesophagus
2	chr5:167723000-167727200	Weak transcription	HSMMtube	muscle
3	chr5:167723000-167728800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:167723000-167728800	Weak transcription	Adipose Nuclei	Adipose
5	chr5:167723000-167728800	Weak transcription	NHDF-Ad	bronchial
6	chr5:167723000-167729200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:167723000-167730400	Weak transcription	Lung	lung
8	chr5:167723200-167727400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:167723400-167728800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:167723400-167728800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:167723400-167728800	Weak transcription	Fetal Heart	heart
12	chr5:167723400-167728800	Weak transcription	Osteobl	bone
13	chr5:167723600-167728600	Weak transcription	Fetal Intestine Large	intestine
14	chr5:167724000-167727200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:167724000-167728000	Weak transcription	Fetal Intestine Small	intestine
16	chr5:167724000-167728800	Weak transcription	HepG2	liver
17	chr5:167724200-167729000	Weak transcription	Fetal Kidney	kidney
18	chr5:167724200-167731600	Weak transcription	Liver	Liver
19	chr5:167724200-167733200	Weak transcription	Placenta	Placenta
20	chr5:167725200-167729800	Enhancers	Pancreas	Pancrea
21	chr5:167726000-167727200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:167726000-167727400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:167726000-167727600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:167726000-167728000	Enhancers	Brain Cingulate Gyrus	brain
25	chr5:167726000-167729400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:167726000-167729400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:167726000-167730600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:167726000-167730800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:167726200-167727600	Enhancers	Fetal Brain Female	brain
30	chr5:167726200-167728000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:167726200-167728200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr5:167726200-167729200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:167726200-167729400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:167726200-167729600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:167726200-167729600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:167726200-167729600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:167726200-167729600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:167726200-167730600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:167726400-167728000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:167726400-167728200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:167726400-167728800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:167726400-167729800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:167726600-167727200	Enhancers	Gastric	stomach
44	chr5:167726600-167728200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr5:167726600-167728200	Enhancers	HSMM	muscle
46	chr5:167726600-167728200	Enhancers	NH-A	brain
47	chr5:167726800-167727400	Enhancers	NHEK	skin
48	chr5:167726800-167727600	Enhancers	Hela-S3	cervix
49	chr5:167726800-167728000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:167726800-167728000	Enhancers	Brain Germinal Matrix	brain

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