Variant report

Variant	rs12692436
Chromosome Location	chr2:11445496-11445497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr2:11445475-11445807	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11437773..11439523-chr2:11445218..11447388,2	K562	blood:
2	chr2:11434738..11436289-chr2:11444236..11445981,2	K562	blood:
3	chr2:11444512..11447438-chr2:11450182..11452688,2	K562	blood:
4	chr2:11444757..11447160-chr2:11453898..11455416,2	MCF-7	breast:
5	chr2:11443856..11445730-chr2:11445772..11448144,2	K562	blood:
6	chr2:11435287..11437143-chr2:11445238..11447670,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230154	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10180914	0.93[ASN][1000 genomes]
rs10181567	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10187981	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10204503	0.85[ASN][1000 genomes]
rs10929727	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10929728	0.84[ASN][1000 genomes]
rs1129976	0.83[EUR][1000 genomes]
rs11676201	0.86[EUR][1000 genomes]
rs11683010	0.85[EUR][1000 genomes]
rs12469980	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12476188	0.91[ASN][1000 genomes]
rs12476632	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12618325	0.81[ASN][1000 genomes]
rs12622447	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13016911	0.97[ASN][1000 genomes]
rs13017010	0.83[ASN][1000 genomes]
rs13393192	0.80[ASN][1000 genomes]
rs13397757	0.80[ASN][1000 genomes]
rs13404430	0.80[ASN][1000 genomes]
rs1868585	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2271621	0.81[EUR][1000 genomes]
rs2290156	0.83[EUR][1000 genomes]
rs34554628	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35844125	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4669700	0.83[ASN][1000 genomes]
rs4669702	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4669708	0.99[ASN][1000 genomes]
rs6709947	0.97[ASN][1000 genomes]
rs7598032	0.80[ASN][1000 genomes]
rs7600696	0.80[ASN][1000 genomes]
rs9798189	0.94[AMR][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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11424800-11455200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:11426600-11446000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:11433200-11445600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:11433200-11446200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:11433600-11446800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:11433600-11448000	Weak transcription	Right Ventricle	heart
7	chr2:11439200-11453000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:11440000-11445800	Weak transcription	Liver	Liver
9	chr2:11440200-11446000	Weak transcription	A549	lung
10	chr2:11441000-11445800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:11442200-11446000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:11442800-11447800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:11443200-11446400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:11443400-11446400	Enhancers	Ovary	ovary
15	chr2:11443400-11447200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:11443400-11447200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:11443600-11445600	Weak transcription	Fetal Intestine Small	intestine
18	chr2:11443600-11445600	Weak transcription	Osteobl	bone
19	chr2:11443600-11446000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:11443600-11446600	Weak transcription	Fetal Intestine Large	intestine
21	chr2:11443600-11446800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:11443600-11447000	Enhancers	Adipose Nuclei	Adipose
23	chr2:11443800-11445600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:11443800-11449400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:11444000-11445600	Weak transcription	Brain Angular Gyrus	brain
26	chr2:11444000-11445600	Weak transcription	Fetal Heart	heart
27	chr2:11444000-11447400	Enhancers	Colon Smooth Muscle	Colon
28	chr2:11444000-11449800	Weak transcription	Aorta	Aorta
29	chr2:11444000-11458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:11444200-11447400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:11444400-11445800	Enhancers	Right Atrium	heart
32	chr2:11444400-11446000	Weak transcription	Fetal Lung	lung
33	chr2:11444400-11446400	Enhancers	Small Intestine	intestine
34	chr2:11444600-11446800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:11444600-11447000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:11444600-11447800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:11444800-11446000	Weak transcription	HepG2	liver
38	chr2:11444800-11447600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr2:11444800-11448000	Enhancers	NHDF-Ad	bronchial
40	chr2:11444800-11454600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:11445000-11445600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:11445000-11446000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:11445000-11465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:11445200-11445600	Weak transcription	Psoas Muscle	Psoas
45	chr2:11445200-11445600	Weak transcription	K562	blood
46	chr2:11445200-11445800	Enhancers	Lung	lung
47	chr2:11445200-11450200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:11445400-11447200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:11445400-11447200	Enhancers	HSMM	muscle
50	chr2:11445400-11460200	Weak transcription	Left Ventricle	heart

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