Variant report

Variant	rs12089893
Chromosome Location	chr1:152431659-152431660
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:152413327..152415883-chr1:152427595..152432391,4	MCF-7	breast:
2	chr1:152160401..152162851-chr1:152430959..152432557,2	K562	blood:
3	chr1:152411861..152413555-chr1:152429926..152432618,2	MCF-7	breast:
4	chr1:152370854..152372408-chr1:152430534..152432083,18	MCF-7	breast:
5	chr1:152160345..152163243-chr1:152429950..152431845,23	MCF-7	breast:
6	chr1:152431515..152433296-chr20:52368931..52371205,2	MCF-7	breast:
7	chr1:152160826..152162605-chr1:152429610..152431734,2	MCF-7	breast:
8	chr1:152430033..152432133-chr20:52323430..52325035,2	MCF-7	breast:
9	chr1:152379125..152381578-chr1:152431090..152434005,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183586	Chromatin interaction
ENSG00000237975	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12067899	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv916016	chr1:152337775-152590520	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv872443	chr1:152400055-152459747	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv872444	chr1:152400361-152440753	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv824664	chr1:152409024-152434443	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv463850	chr1:152411090-152434009	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv547858	chr1:152411090-152434009	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv872445	chr1:152411813-152440753	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152430000-152432400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:152430000-152432400	Weak transcription	Brain Substantia Nigra	brain
3	chr1:152430200-152432200	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:152430800-152432400	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:152431000-152432000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:152431000-152432200	Weak transcription	Brain Anterior Caudate	brain
7	chr1:152431000-152432200	Enhancers	GM12878-XiMat	blood
8	chr1:152431200-152432200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:152431200-152432400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:152431200-152432400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:152431200-152432400	Weak transcription	Spleen	Spleen
12	chr1:152431400-152431800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:152431400-152432000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:152431400-152432200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:152431400-152432200	Weak transcription	Liver	Liver
16	chr1:152431400-152432400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:152431400-152432400	Weak transcription	Adipose Nuclei	Adipose
18	chr1:152431400-152432400	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:152431400-152432400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:152431400-152432400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:152431400-152432400	Weak transcription	NHEK	skin
22	chr1:152431600-152432000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:152431600-152432000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:152431600-152432000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:152431600-152432000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:152431600-152432000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:152431600-152432000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:152431600-152432000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:152431600-152432000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:152431600-152432000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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