Variant report

Variant	rs3789023
Chromosome Location	chr11:45922690-45922691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:45922533-45922858	H1-neurons	neurons:	n/a	n/a
2	SIN3A	chr11:45922052-45922724	H1-hESC	embryonic stem cell:	n/a	chr11:45922112-45922121

No.	Distal block	Cell Line	Cell type
1	chr11:45898608..45900937-chr11:45921279..45922958,2	MCF-7	breast:
2	chr11:45921817..45923409-chr11:45925394..45927956,2	K562	blood:
3	chr11:45920062..45922983-chr11:45935210..45941830,10	K562	blood:
4	chr11:45920093..45922965-chr11:46143378..46145105,2	K562	blood:

Variant related genes	Relation type
MAPK8IP1	TF binding region
ENSG00000121680	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10838529	0.94[CHB][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.80[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11038709	0.91[ASN][1000 genomes]
rs2271845	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2280329	0.81[EUR][1000 genomes]
rs4505038	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4755346	0.89[EUR][1000 genomes]
rs55884539	0.83[ASN][1000 genomes]
rs56148819	0.80[ASN][1000 genomes]
rs7114162	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1807609	chr11:45915859-45940195	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3344990	chr11:45920601-45923149	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 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	chr11:45920800-45922800	Enhancers	Liver	Liver
2	chr11:45921000-45923000	Active TSS	Brain Angular Gyrus	brain
3	chr11:45921000-45923000	Active TSS	Brain Substantia Nigra	brain
4	chr11:45921000-45923200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:45921200-45922800	Active TSS	Brain Anterior Caudate	brain
6	chr11:45921200-45922800	Active TSS	Brain Cingulate Gyrus	brain
7	chr11:45921200-45922800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr11:45921200-45922800	Active TSS	HSMMtube	muscle
9	chr11:45921200-45922800	Active TSS	NHLF	lung
10	chr11:45921200-45923000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:45921200-45923200	Active TSS	Brain Hippocampus Middle	brain
12	chr11:45921400-45933000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:45921600-45923000	Enhancers	Spleen	Spleen
14	chr11:45921600-45931400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:45922000-45922800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr11:45922000-45922800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:45922000-45922800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:45922000-45922800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr11:45922000-45922800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr11:45922000-45923000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:45922000-45923000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:45922000-45923000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr11:45922000-45923000	Flanking Active TSS	Pancreas	Pancrea
24	chr11:45922000-45923000	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr11:45922000-45923000	Flanking Active TSS	NH-A	brain
26	chr11:45922000-45923200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:45922000-45923200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:45922000-45923200	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr11:45922200-45922800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr11:45922200-45922800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:45922200-45922800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr11:45922200-45922800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:45922200-45922800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
34	chr11:45922200-45922800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr11:45922200-45922800	Enhancers	Left Ventricle	heart
36	chr11:45922200-45923000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:45922200-45923000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr11:45922200-45923200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:45922200-45923200	Flanking Active TSS	Fetal Brain Female	brain
40	chr11:45922200-45923400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:45922200-45931800	Weak transcription	Primary B cells from cord blood	blood
42	chr11:45922400-45922800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:45922400-45922800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr11:45922400-45922800	Bivalent Enhancer	Stomach Mucosa	stomach
45	chr11:45922400-45923000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:45922400-45923000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:45922400-45923200	Bivalent Enhancer	Placenta	Placenta
48	chr11:45922400-45923200	Enhancers	K562	blood
49	chr11:45922400-45934800	Weak transcription	A549	lung
50	chr11:45922600-45922800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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