Variant report

Variant	rs1551242
Chromosome Location	chr11:120084221-120084222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:120084161-120084300	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:120084156-120084321	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
2	chr11:120038992..120040633-chr11:120083752..120086483,2	K562	blood:
3	chr11:120080662..120083182-chr11:120083944..120086303,3	MCF-7	breast:
4	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:
5	chr11:120038506..120040920-chr11:120082703..120085252,3	K562	blood:

No data

Variant related genes	Relation type
OAF	TF binding region
ENSG00000137709	Chromatin interaction
ENSG00000184232	Chromatin interaction
ENSG00000176984	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10790370	0.94[ASN][1000 genomes]
rs11217768	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11217771	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12222405	0.80[ASN][1000 genomes]
rs12223954	0.92[ASN][1000 genomes]
rs1551240	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1551241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56667128	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72645479	0.98[ASN][1000 genomes]
rs731512	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120081000-120084400	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:120081200-120084400	Active TSS	Right Atrium	heart
3	chr11:120081200-120084600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:120082200-120085200	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr11:120082600-120084400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:120082600-120084400	Active TSS	Colon Smooth Muscle	Colon
7	chr11:120082800-120084400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr11:120082800-120084400	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr11:120082800-120086400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:120082800-120087200	Weak transcription	Lung	lung
11	chr11:120082800-120091800	Enhancers	Placenta	Placenta
12	chr11:120082800-120095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:120083000-120086400	Weak transcription	HMEC	breast
14	chr11:120083200-120084400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:120083200-120084400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr11:120083200-120084600	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr11:120083200-120084800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:120083200-120085000	Flanking Active TSS	Liver	Liver
19	chr11:120083200-120085400	Active TSS	Stomach Smooth Muscle	stomach
20	chr11:120083400-120084400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr11:120083400-120084600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:120083400-120084800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr11:120083400-120086200	Weak transcription	K562	blood
24	chr11:120083400-120088400	Weak transcription	Brain Angular Gyrus	brain
25	chr11:120083600-120084400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
26	chr11:120083600-120084400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr11:120083600-120084400	Flanking Active TSS	HepG2	liver
28	chr11:120083600-120084400	Enhancers	HUVEC	blood vessel
29	chr11:120083600-120084600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:120083600-120084600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
31	chr11:120083600-120084800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:120083600-120084800	Enhancers	Small Intestine	intestine
33	chr11:120083600-120089000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:120083600-120089600	Weak transcription	Fetal Heart	heart
35	chr11:120083800-120084400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:120083800-120084400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
37	chr11:120083800-120084400	Enhancers	Fetal Lung	lung
38	chr11:120083800-120084400	Enhancers	Ovary	ovary
39	chr11:120083800-120084400	Enhancers	Osteobl	bone
40	chr11:120083800-120084800	Enhancers	Brain Anterior Caudate	brain
41	chr11:120083800-120085000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:120083800-120086200	Weak transcription	Stomach Mucosa	stomach
43	chr11:120083800-120086200	Weak transcription	HSMM	muscle
44	chr11:120083800-120088400	Weak transcription	Brain Substantia Nigra	brain
45	chr11:120083800-120094000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:120084000-120084400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:120084000-120084400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:120084000-120084400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr11:120084000-120084400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr11:120084000-120084400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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