Variant report

Variant	rs73590044
Chromosome Location	chr11:120480117-120480118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120471375..120475436-chr11:120476870..120481241,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10502238	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17124061	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17124064	1.00[EUR][1000 genomes]
rs1815896	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2000871	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4936530	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4936531	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57461612	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120475000-120481400	Enhancers	Fetal Lung	lung
2	chr11:120476400-120482600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:120477600-120480200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:120478200-120481600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:120478200-120482000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr11:120478400-120480600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:120478400-120481400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:120478400-120482400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:120478600-120480200	Enhancers	Ovary	ovary
10	chr11:120478600-120481600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:120478800-120481200	Weak transcription	GM12878-XiMat	blood
12	chr11:120478800-120484400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:120479000-120480200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:120479000-120480200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:120479000-120480200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:120479000-120481200	Enhancers	Fetal Brain Female	brain
17	chr11:120479000-120481600	Enhancers	Brain Hippocampus Middle	brain
18	chr11:120479200-120480200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:120479200-120480200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:120479200-120480200	Enhancers	Fetal Muscle Trunk	muscle
21	chr11:120479200-120483600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr11:120479400-120480200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:120479400-120480200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:120479400-120480200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:120479400-120480200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:120479400-120480200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:120479400-120480200	Enhancers	Colon Smooth Muscle	Colon
28	chr11:120479400-120480200	Enhancers	Fetal Muscle Leg	muscle
29	chr11:120479400-120480200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:120479400-120481600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr11:120479400-120481600	Enhancers	Fetal Stomach	stomach
32	chr11:120479400-120482200	Enhancers	Fetal Brain Male	brain
33	chr11:120479600-120480800	Weak transcription	Pancreas	Pancrea
34	chr11:120479800-120482200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:120479800-120484000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:120479800-120484800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:120480000-120480200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:120480000-120480200	Enhancers	Duodenum Mucosa	Duodenum
39	chr11:120480000-120480200	Enhancers	Right Atrium	heart
40	chr11:120480000-120480400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:120480000-120480400	Enhancers	Fetal Kidney	kidney
42	chr11:120480000-120481600	Weak transcription	Adipose Nuclei	Adipose
43	chr11:120480000-120482200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:120480000-120483400	Weak transcription	Fetal Intestine Large	intestine
45	chr11:120480000-120483400	Weak transcription	Fetal Intestine Small	intestine

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