Variant report

Variant	rs7022553
Chromosome Location	chr9:94814219-94814220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10820926	0.92[EUR][1000 genomes]
rs10820927	0.92[EUR][1000 genomes]
rs10820929	0.92[EUR][1000 genomes]
rs10820935	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10820938	0.83[ASN][1000 genomes]
rs10992173	0.84[EUR][1000 genomes]
rs10992176	0.84[EUR][1000 genomes]
rs10992177	0.84[EUR][1000 genomes]
rs10992178	0.88[EUR][1000 genomes]
rs10992179	0.92[EUR][1000 genomes]
rs10992180	0.92[EUR][1000 genomes]
rs10992183	0.92[EUR][1000 genomes]
rs10992190	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10992212	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10992215	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10992216	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992220	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10992221	0.81[ASN][1000 genomes]
rs10992222	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10992230	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992231	0.80[ASN][1000 genomes]
rs10992233	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10992235	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10992236	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11533009	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12235309	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12235310	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12235495	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12236121	0.92[EUR][1000 genomes]
rs12237221	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12237598	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12238682	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12337180	0.83[ASN][1000 genomes]
rs12683519	0.81[EUR][1000 genomes]
rs16908003	0.84[EUR][1000 genomes]
rs16908021	0.84[EUR][1000 genomes]
rs16908135	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16908137	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892267	0.84[EUR][1000 genomes]
rs1892269	0.84[EUR][1000 genomes]
rs2096388	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3858090	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4641129	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5000044	0.80[EUR][1000 genomes]
rs58909848	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59114373	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59183854	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59232045	0.80[EUR][1000 genomes]
rs59856128	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7033030	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7847966	0.83[ASN][1000 genomes]
rs7849220	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7852067	0.83[ASN][1000 genomes]
rs7858659	0.84[ASN][1000 genomes]
rs7862826	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7872515	0.83[ASN][1000 genomes]
rs7872765	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv982320	chr9:94799706-94821700	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94803400-94821200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:94804600-94817600	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:94805000-94823200	Strong transcription	Duodenum Mucosa	Duodenum
4	chr9:94805400-94821600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:94805600-94818000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:94805600-94822600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr9:94805600-94823400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:94805800-94821200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:94805800-94822800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:94806000-94814800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr9:94806000-94823200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr9:94806400-94817800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:94806800-94822000	Weak transcription	Stomach Mucosa	stomach
14	chr9:94806800-94822400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:94806800-94822800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr9:94807000-94816800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:94807200-94822000	Weak transcription	Psoas Muscle	Psoas
18	chr9:94807200-94822600	Strong transcription	Primary T cells from cord blood	blood
19	chr9:94807200-94823000	Strong transcription	Primary B cells from cord blood	blood
20	chr9:94807200-94823200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr9:94807400-94814400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:94807400-94815600	Weak transcription	Fetal Heart	heart
23	chr9:94807400-94816600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr9:94807400-94822800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:94807600-94815400	Weak transcription	Brain Germinal Matrix	brain
26	chr9:94807600-94816600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr9:94807600-94824600	Weak transcription	Fetal Brain Male	brain
28	chr9:94808800-94815600	Weak transcription	NHLF	lung
29	chr9:94809000-94817200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:94809400-94817200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:94809600-94815200	Weak transcription	Brain Anterior Caudate	brain
32	chr9:94809600-94815400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr9:94809600-94815400	Weak transcription	Brain Hippocampus Middle	brain
34	chr9:94809600-94815800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr9:94809600-94816000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:94809600-94816000	Weak transcription	Brain Angular Gyrus	brain
37	chr9:94809600-94816600	Weak transcription	Colon Smooth Muscle	Colon
38	chr9:94809600-94816800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:94809600-94817200	Weak transcription	Fetal Kidney	kidney
40	chr9:94809600-94818800	Weak transcription	HMEC	breast
41	chr9:94809600-94820600	Weak transcription	Pancreas	Pancrea
42	chr9:94809600-94823600	Weak transcription	Colonic Mucosa	Colon
43	chr9:94809800-94815600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr9:94810000-94818800	Weak transcription	NHDF-Ad	bronchial
45	chr9:94810000-94820600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr9:94810200-94815400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:94810800-94860200	Weak transcription	Right Ventricle	heart
48	chr9:94811200-94822600	Strong transcription	Primary hematopoietic stem cells	blood
49	chr9:94811600-94814800	Strong transcription	A549	lung
50	chr9:94811600-94815400	Weak transcription	Brain Inferior Temporal Lobe	brain

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