Variant report

Variant	rs12081854
Chromosome Location	chr1:85773676-85773677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:85773662..85774295-chr1:86315658..86316288,2	MCF-7	breast:
2	chr1:85773559..85774503-chr1:85968082..85969194,5	MCF-7	breast:
3	chr1:85761882..85764422-chr1:85771708..85774454,2	MCF-7	breast:
4	chr1:85773553..85774634-chr1:86046357..86047568,5	MCF-7	breast:
5	chr1:85574684..85575292-chr1:85773621..85774504,2	K562	blood:
6	chr1:85773624..85774495-chr1:86158324..86158878,2	MCF-7	breast:
7	chr1:85741221..85743061-chr1:85771624..85774021,2	MCF-7	breast:
8	chr1:85740935..85742638-chr1:85771811..85774003,2	MCF-7	breast:
9	chr1:85773549..85774394-chr1:86096198..86096774,2	MCF-7	breast:
10	chr1:85771767..85774847-chr1:86045306..86048244,3	MCF-7	breast:
11	chr1:85773623..85774572-chr1:85864125..85865314,5	MCF-7	breast:
12	chr1:85742649..85744185-chr1:85771821..85774267,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction
ENSG00000223653	Chromatin interaction
ENSG00000142867	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12061215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12757137	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][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	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	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85764400-85774000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:85769400-85773800	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:85769400-85773800	Weak transcription	Fetal Stomach	stomach
4	chr1:85769600-85774200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:85772600-85773800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:85772800-85779800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:85773400-85773800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:85773400-85773800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:85773400-85773800	Enhancers	HepG2	liver
10	chr1:85773400-85774000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:85773400-85774600	Enhancers	Fetal Heart	heart
12	chr1:85773400-85774800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:85773600-85773800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:85773600-85773800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:85773600-85773800	Enhancers	Spleen	Spleen
16	chr1:85773600-85774000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:85773600-85774000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:85773600-85774000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:85773600-85774000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:85773600-85774000	Enhancers	Adipose Nuclei	Adipose
21	chr1:85773600-85774000	Enhancers	Liver	Liver
22	chr1:85773600-85774000	Enhancers	Fetal Muscle Trunk	muscle
23	chr1:85773600-85774000	Enhancers	Right Atrium	heart
24	chr1:85773600-85774000	Enhancers	Osteobl	bone
25	chr1:85773600-85774200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:85773600-85774200	Enhancers	HUVEC	blood vessel
27	chr1:85773600-85774400	Enhancers	Primary B cells from peripheral blood	blood
28	chr1:85773600-85774400	Enhancers	HMEC	breast
29	chr1:85773600-85774600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:85773600-85774600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:85773600-85774600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr1:85773600-85774600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:85773600-85774600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:85773600-85774600	Enhancers	Colon Smooth Muscle	Colon
35	chr1:85773600-85774800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:85773600-85774800	Enhancers	NHDF-Ad	bronchial
37	chr1:85773600-85774800	Enhancers	NHEK	skin
38	chr1:85773600-85775000	Enhancers	HSMM	muscle
39	chr1:85773600-85775000	Enhancers	NH-A	brain
40	chr1:85773600-85775400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:85773600-85775600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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