Variant report

Variant	rs12085727
Chromosome Location	chr1:86108264-86108265
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12072843	1.00[AMR][1000 genomes]
rs12092635	1.00[AMR][1000 genomes]
rs12095823	1.00[AMR][1000 genomes]
rs28622579	1.00[AMR][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86094000-86118600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:86095400-86119000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:86095400-86134800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:86095600-86117000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:86096200-86115600	Weak transcription	NH-A	brain
6	chr1:86102800-86118200	Weak transcription	K562	blood
7	chr1:86103400-86116000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
9	chr1:86103600-86113600	Weak transcription	HSMM	muscle
10	chr1:86103600-86114000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:86103600-86114000	Weak transcription	Fetal Stomach	stomach
12	chr1:86103600-86115000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:86103600-86116400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:86103600-86117800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:86103600-86119000	Weak transcription	Spleen	Spleen
16	chr1:86103600-86119400	Weak transcription	Fetal Heart	heart
17	chr1:86103600-86119800	Weak transcription	NHLF	lung
18	chr1:86103600-86120200	Weak transcription	HMEC	breast
19	chr1:86103600-86141200	Weak transcription	Thymus	Thymus
20	chr1:86103600-86142200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:86103600-86145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:86103600-86145600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:86103600-86157400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:86103600-86172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:86103600-86172600	Weak transcription	Gastric	stomach
26	chr1:86104200-86113800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:86104400-86116000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:86104400-86116000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:86104600-86115000	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:86104600-86117800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:86105000-86113800	Weak transcription	A549	lung
32	chr1:86105000-86118000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:86105200-86113800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:86105200-86113800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:86105200-86113800	Weak transcription	Primary B cells from cord blood	blood
36	chr1:86105200-86113800	Weak transcription	Liver	Liver
37	chr1:86105200-86113800	Weak transcription	Osteobl	bone
38	chr1:86105200-86114400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:86105200-86114600	Weak transcription	Psoas Muscle	Psoas
40	chr1:86105200-86115200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:86105200-86118000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:86105200-86118800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:86105200-86119000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:86105800-86113800	Weak transcription	Fetal Lung	lung
45	chr1:86106000-86141200	Weak transcription	Lung	lung
46	chr1:86107800-86108400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:86107800-86108400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:86107800-86108400	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr1:86107800-86108400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:86108000-86113800	Weak transcription	HepG2	liver

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