Variant report

Variant	rs11123109
Chromosome Location	chr2:112806183-112806184
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: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	chr2:112645003..112645750-chr2:112805810..112806621,2	MCF-7	breast:
2	chr2:112640171..112645410-chr2:112802081..112806839,5	MCF-7	breast:
3	chr2:112645054..112646137-chr2:112805997..112807291,12	MCF-7	breast:
4	chr2:112658215..112658830-chr2:112806155..112807049,3	K562	blood:
5	chr2:112655209..112656068-chr2:112805939..112806705,3	K562	blood:
6	chr2:112657825..112659209-chr2:112806011..112807065,8	MCF-7	breast:
7	chr2:112644990..112645989-chr2:112805418..112807010,11	K562	blood:
8	chr2:112655190..112656611-chr2:112805884..112807102,14	MCF-7	breast:
9	chr2:112655301..112655903-chr2:112806007..112806643,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153208	Chromatin interaction
ENSG00000153107	Chromatin interaction
ENSG00000236307	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10194496	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4632347	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66990408	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6748256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv1793068	chr2:112784234-112816694	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112803200-112811200	Weak transcription	Fetal Stomach	stomach
2	chr2:112804400-112811000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:112804600-112811200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:112805000-112806200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:112805000-112806200	Enhancers	Fetal Intestine Small	intestine
6	chr2:112805200-112806200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:112805200-112806400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:112805200-112806400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:112805200-112806400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:112805200-112806400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:112805200-112806400	Enhancers	Fetal Intestine Large	intestine
12	chr2:112805200-112806400	Flanking Active TSS	HepG2	liver
13	chr2:112805200-112806400	Enhancers	K562	blood
14	chr2:112805400-112806200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:112805400-112806400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr2:112805400-112806400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:112805400-112806400	Enhancers	Brain Anterior Caudate	brain
18	chr2:112805400-112806400	Weak transcription	Pancreas	Pancrea
19	chr2:112805400-112806600	Enhancers	Duodenum Mucosa	Duodenum
20	chr2:112805600-112806400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:112805600-112806400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:112805600-112811200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:112805600-112811200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:112805600-112811400	Weak transcription	Right Ventricle	heart
25	chr2:112805600-112811600	Weak transcription	Aorta	Aorta
26	chr2:112805600-112811600	Weak transcription	Gastric	stomach
27	chr2:112805800-112806200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:112805800-112806200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:112805800-112806400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:112805800-112806400	Enhancers	Fetal Heart	heart
31	chr2:112805800-112807200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:112805800-112811000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:112806000-112806200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:112806000-112806400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:112806000-112811400	Weak transcription	Right Atrium	heart

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