Variant report

Variant	rs12092786
Chromosome Location	chr1:228318215-228318216
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228296587..228298134-chr1:228317417..228319245,2	MCF-7	breast:
2	chr1:228296837..228298966-chr1:228317403..228319200,2	MCF-7	breast:
3	chr1:228317307..228320244-chr1:228593254..228595071,2	MCF-7	breast:
4	chr1:228317360..228320048-chr1:228643318..228645698,2	K562	blood:
5	chr1:228316995..228318860-chr1:228643471..228645698,2	K562	blood:
6	chr1:228191780..228193444-chr1:228317568..228320348,2	MCF-7	breast:
7	chr1:228317576..228320625-chr1:228326165..228329627,4	MCF-7	breast:
8	chr1:228317547..228320565-chr1:228350763..228355962,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162910	Chromatin interaction
ENSG00000154370	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000143774	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000181873	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11804099	1.00[EUR][1000 genomes]
rs12090413	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093044	1.00[EUR][1000 genomes]
rs12095133	1.00[EUR][1000 genomes]
rs2313121	1.00[EUR][1000 genomes]
rs4396117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140903	1.00[EUR][1000 genomes]
rs74142661	1.00[EUR][1000 genomes]
rs74142677	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
5	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
6	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
8	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
9	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228315000-228318600	Weak transcription	Adipose Nuclei	Adipose
2	chr1:228318000-228318400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:228318000-228318400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:228318000-228318800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:228318000-228319200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:228318200-228318400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:228318200-228318400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:228318200-228318400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:228318200-228318600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:228318200-228318600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:228318200-228318600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:228318200-228318600	Enhancers	Liver	Liver
13	chr1:228318200-228318600	Enhancers	K562	blood
14	chr1:228318200-228318800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:228318200-228318800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr1:228318200-228318800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:228318200-228318800	Active TSS	NHEK	skin
18	chr1:228318200-228319000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr1:228318200-228319000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:228318200-228319000	Active TSS	A549	lung
21	chr1:228318200-228319000	Bivalent Enhancer	Osteobl	bone
22	chr1:228318200-228319200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr1:228318200-228319200	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:228318200-228319400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:228318200-228319800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:228318200-228319800	Enhancers	Fetal Intestine Large	intestine
27	chr1:228318200-228319800	Enhancers	Placenta	Placenta
28	chr1:228318200-228319800	Enhancers	HMEC	breast

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