Variant report

Variant	rs12057559
Chromosome Location	chr1:86119295-86119296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85950441..85953344-chr1:86117969..86119988,2	MCF-7	breast:
2	chr1:86117515..86119531-chr1:86121414..86124189,2	K562	blood:
3	chr1:86114750..86117708-chr1:86118928..86121953,3	MCF-7	breast:
4	chr1:86048276..86051402-chr1:86117655..86121071,4	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10791	0.98[ASN][1000 genomes]
rs10873712	0.95[ASN][1000 genomes]
rs12096345	0.80[EUR][1000 genomes]
rs17128257	0.88[EUR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86095400-86134800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
3	chr1:86103600-86119400	Weak transcription	Fetal Heart	heart
4	chr1:86103600-86119800	Weak transcription	NHLF	lung
5	chr1:86103600-86120200	Weak transcription	HMEC	breast
6	chr1:86103600-86141200	Weak transcription	Thymus	Thymus
7	chr1:86103600-86142200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:86103600-86145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:86103600-86145600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:86103600-86157400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:86103600-86172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:86103600-86172600	Weak transcription	Gastric	stomach
13	chr1:86106000-86141200	Weak transcription	Lung	lung
14	chr1:86114000-86141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:86114000-86143600	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:86114200-86120200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:86114400-86119600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:86114400-86142200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:86114400-86163200	Weak transcription	Esophagus	oesophagus
20	chr1:86115000-86119800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:86115200-86123400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr1:86115200-86124800	Weak transcription	Brain Substantia Nigra	brain
23	chr1:86115200-86146800	Weak transcription	Psoas Muscle	Psoas
24	chr1:86115200-86167600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:86115400-86119400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:86115400-86141000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:86115600-86119600	Strong transcription	NH-A	brain
28	chr1:86115600-86120000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:86116000-86119400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:86116000-86123400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:86116400-86120200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:86116400-86127000	Weak transcription	Fetal Kidney	kidney
33	chr1:86116400-86143600	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:86116400-86146200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:86116600-86119800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:86116600-86119800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:86116600-86119800	Weak transcription	A549	lung
38	chr1:86116600-86120200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:86116600-86121800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:86116600-86122200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:86116600-86123600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:86116600-86129200	Weak transcription	Aorta	Aorta
43	chr1:86116600-86142200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:86116600-86145400	Weak transcription	Fetal Stomach	stomach
45	chr1:86116800-86119800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:86116800-86124600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:86117000-86165800	Weak transcription	Fetal Brain Female	brain
48	chr1:86117200-86119400	Strong transcription	NHDF-Ad	bronchial
49	chr1:86117200-86119800	Strong transcription	HSMM	muscle
50	chr1:86117200-86120600	Strong transcription	Primary hematopoietic stem cells	blood

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