Variant report

Variant	rs11720158
Chromosome Location	chr3:119240130-119240131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11706028	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11706042	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11707612	0.94[ASN][1000 genomes]
rs11709468	0.92[ASN][1000 genomes]
rs11714738	0.99[ASN][1000 genomes]
rs11714843	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11719448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720423	0.94[ASN][1000 genomes]
rs1599795	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1599796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17203104	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17203188	0.99[ASN][1000 genomes]
rs1938	0.87[ASN][1000 genomes]
rs1961132	0.99[ASN][1000 genomes]
rs2049500	0.91[ASN][1000 genomes]
rs2276713	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280670	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2293371	0.96[ASN][1000 genomes]
rs34090996	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3732418	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3755579	0.96[ASN][1000 genomes]
rs4447803	0.99[ASN][1000 genomes]
rs4461452	0.93[ASN][1000 genomes]
rs4687851	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4687854	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4687863	0.91[ASN][1000 genomes]
rs4688002	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4688009	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4688011	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4688013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57506457	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59024323	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60938951	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62263399	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62263404	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62263406	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62263444	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62264483	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62264487	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438534	0.91[ASN][1000 genomes]
rs6788474	0.91[ASN][1000 genomes]
rs7610335	0.93[ASN][1000 genomes]
rs9289131	0.99[ASN][1000 genomes]
rs9832341	0.98[ASN][1000 genomes]
rs9850413	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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119220000-119243600	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:119220200-119246800	Weak transcription	Stomach Mucosa	stomach
3	chr3:119220800-119243800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:119221000-119244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:119221200-119243600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr3:119221200-119244400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:119221400-119245400	Strong transcription	Placenta	Placenta
8	chr3:119221600-119244600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:119222000-119245400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr3:119224000-119245200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:119226000-119245200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:119226000-119245200	Strong transcription	Liver	Liver
13	chr3:119226600-119245200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:119227400-119245400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:119228000-119243600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:119228000-119250000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:119229200-119240200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:119229200-119244600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:119230600-119245400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr3:119230800-119244400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr3:119231200-119244000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:119231600-119240600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:119231600-119243400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:119231800-119240200	Strong transcription	Primary T cells from cord blood	blood
25	chr3:119231800-119240200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:119231800-119240200	Strong transcription	Fetal Brain Male	brain
27	chr3:119231800-119240600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:119231800-119240800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:119231800-119243200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:119231800-119243400	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr3:119231800-119244000	Strong transcription	Adipose Nuclei	Adipose
32	chr3:119231800-119244800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:119231800-119245400	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:119231800-119257200	Strong transcription	GM12878-XiMat	blood
35	chr3:119232000-119240200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr3:119232000-119243200	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr3:119232000-119244200	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr3:119232000-119244200	Strong transcription	Brain Substantia Nigra	brain
39	chr3:119232000-119245200	Strong transcription	A549	lung
40	chr3:119232200-119243200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr3:119233000-119245200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr3:119233200-119243600	Strong transcription	Brain Anterior Caudate	brain
43	chr3:119233200-119244600	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr3:119233400-119240400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:119234200-119241200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr3:119234400-119244600	Strong transcription	Fetal Intestine Large	intestine
47	chr3:119234600-119244400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr3:119235000-119240400	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr3:119235800-119240600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:119235800-119242600	Strong transcription	Fetal Kidney	kidney

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