Variant report

Variant	rs7119619
Chromosome Location	chr11:120581105-120581106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11217978	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11217979	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11217980	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11217981	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11217983	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11217984	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11217987	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11217988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217989	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12270261	0.81[CEU][hapmap]
rs12270409	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12272864	0.82[CEU][hapmap]
rs12274300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276408	0.80[CHB][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12276440	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12278795	0.81[CEU][hapmap]
rs12280296	0.81[CEU][hapmap]
rs12281464	0.91[CEU][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12281614	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12291927	0.82[CEU][hapmap]
rs12293393	0.81[CEU][hapmap]
rs12294858	0.85[CEU][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12295113	0.81[CEU][hapmap]
rs12295200	0.82[CEU][hapmap]
rs17124211	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2846109	0.82[CEU][hapmap]
rs2852225	0.82[CEU][hapmap]
rs2852227	0.81[CEU][hapmap];0.80[ASN][1000 genomes]
rs28781001	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4567478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61901379	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61901380	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61902685	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61902688	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7102869	0.82[CEU][hapmap]
rs7103021	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7103228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7103418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7120727	0.80[ASN][1000 genomes]
rs7944756	0.91[CEU][hapmap]
rs7946325	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9630199	0.90[CEU][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9630200	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][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	nsv1054407	chr11:120535570-120630114	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3693392	chr11:120549745-120628012	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120570000-120581600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:120578600-120581600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:120579000-120581200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:120579000-120583000	Enhancers	Fetal Intestine Large	intestine
5	chr11:120579200-120585200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:120579800-120581200	Weak transcription	Left Ventricle	heart
7	chr11:120579800-120581400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:120580000-120585800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:120580200-120583800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:120580400-120581200	Enhancers	Adipose Nuclei	Adipose
11	chr11:120580400-120583000	Enhancers	Brain Hippocampus Middle	brain
12	chr11:120580400-120583000	Enhancers	Fetal Lung	lung
13	chr11:120580400-120583800	Enhancers	NHDF-Ad	bronchial
14	chr11:120580600-120581800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:120580600-120582200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:120580600-120582200	Enhancers	Brain Angular Gyrus	brain
17	chr11:120580600-120582200	Enhancers	Brain Anterior Caudate	brain
18	chr11:120580600-120582200	Enhancers	Brain Cingulate Gyrus	brain
19	chr11:120580600-120582200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr11:120580600-120582600	Enhancers	NH-A	brain
21	chr11:120580600-120583000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:120580600-120583000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:120580600-120583000	Enhancers	Osteobl	bone
24	chr11:120580600-120583200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:120580600-120583600	Enhancers	NHLF	lung
26	chr11:120580800-120581800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:120580800-120581800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:120580800-120581800	Enhancers	Rectal Smooth Muscle	rectum
29	chr11:120580800-120581800	Flanking Active TSS	HepG2	liver
30	chr11:120580800-120582000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:120580800-120582000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr11:120580800-120582000	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr11:120580800-120582000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr11:120580800-120582200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr11:120580800-120582200	Enhancers	Colon Smooth Muscle	Colon
36	chr11:120580800-120582200	Enhancers	HSMM	muscle
37	chr11:120580800-120582600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:120580800-120582600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:120580800-120582600	Enhancers	Fetal Stomach	stomach
40	chr11:120580800-120582800	Enhancers	Brain Substantia Nigra	brain
41	chr11:120580800-120583000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr11:120580800-120583000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:120580800-120583000	Enhancers	Placenta	Placenta
44	chr11:120581000-120581600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:120581000-120581600	Enhancers	HSMMtube	muscle
46	chr11:120581000-120581600	Enhancers	NHEK	skin
47	chr11:120581000-120581800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:120581000-120581800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr11:120581000-120581800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr11:120581000-120581800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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