Variant report

Variant	rs10790379
Chromosome Location	chr11:120221652-120221653
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	chr11:120221307..120224053-chr11:120246585..120248517,2	K562	blood:
2	chr11:120221531..120223871-chr11:120285181..120286772,2	K562	blood:

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

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

rs_ID	r²[population]
rs10892568	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3809059	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4245212	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs496248	0.84[EUR][1000 genomes]
rs503473	0.84[EUR][1000 genomes]
rs538661	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs632137	0.85[ASN][1000 genomes]
rs661139	0.86[ASN][1000 genomes]
rs7116481	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7927027	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[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	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	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120208800-120223400	Weak transcription	Gastric	stomach
2	chr11:120209600-120224600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:120211000-120224400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:120211600-120224400	Weak transcription	A549	lung
5	chr11:120213800-120224600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:120215000-120223400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:120215000-120224400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:120215400-120225600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:120215800-120223400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:120216000-120224200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:120216000-120224800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:120216000-120239000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:120216200-120223600	Weak transcription	Small Intestine	intestine
14	chr11:120216200-120224600	Weak transcription	Spleen	Spleen
15	chr11:120216200-120224600	Weak transcription	NHEK	skin
16	chr11:120216400-120244800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:120217200-120223400	Weak transcription	Right Ventricle	heart
18	chr11:120217200-120224400	Weak transcription	Lung	lung
19	chr11:120217200-120228600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:120217200-120232000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:120217400-120222200	Weak transcription	Pancreas	Pancrea
22	chr11:120217400-120223400	Weak transcription	Ovary	ovary
23	chr11:120217400-120224400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:120217400-120225600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:120217400-120234000	Weak transcription	Aorta	Aorta
26	chr11:120217600-120257000	Weak transcription	HSMM	muscle
27	chr11:120217800-120222400	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:120218000-120228400	Enhancers	Liver	Liver
29	chr11:120218200-120224600	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:120218200-120224800	Weak transcription	NH-A	brain
31	chr11:120218200-120225600	Weak transcription	Psoas Muscle	Psoas
32	chr11:120218200-120229600	Weak transcription	GM12878-XiMat	blood
33	chr11:120218400-120223200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr11:120218400-120223400	Weak transcription	Fetal Intestine Large	intestine
35	chr11:120218600-120223200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:120218600-120223200	Weak transcription	Fetal Intestine Small	intestine
37	chr11:120218600-120223400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:120218600-120224200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:120218600-120224400	Weak transcription	NHDF-Ad	bronchial
40	chr11:120218600-120224800	Weak transcription	Fetal Kidney	kidney
41	chr11:120218600-120231800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:120218600-120232000	Weak transcription	Fetal Stomach	stomach
43	chr11:120218600-120232400	Weak transcription	HUVEC	blood vessel
44	chr11:120218800-120224800	Weak transcription	Osteobl	bone
45	chr11:120218800-120230600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:120219600-120222000	Enhancers	Fetal Heart	heart
47	chr11:120220200-120221800	Enhancers	K562	blood
48	chr11:120220400-120222200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:120220400-120223400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:120220400-120232800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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