Variant report

Variant	rs11704960
Chromosome Location	chr22:29389202-29389203
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10483152	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12484882	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13055470	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17518058	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34293193	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5762925	0.88[EUR][1000 genomes]
rs7290686	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291953	0.98[ASN][1000 genomes]
rs997567	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
2	chr22:29373400-29390800	Weak transcription	Hela-S3	cervix
3	chr22:29373600-29400200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr22:29374400-29395200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:29374600-29395600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:29374600-29400000	Weak transcription	Right Ventricle	heart
7	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr22:29375600-29390800	Weak transcription	NHDF-Ad	bronchial
9	chr22:29375800-29395400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:29379600-29400800	Weak transcription	Fetal Brain Female	brain
11	chr22:29380800-29400800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr22:29381000-29393000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:29381000-29395600	Weak transcription	Esophagus	oesophagus
14	chr22:29381200-29400400	Weak transcription	Lung	lung
15	chr22:29381400-29389400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr22:29381600-29395400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr22:29381800-29390600	Weak transcription	Colonic Mucosa	Colon
18	chr22:29382000-29400200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr22:29382400-29393200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:29383000-29390000	Strong transcription	Fetal Intestine Small	intestine
21	chr22:29383200-29390000	Strong transcription	Fetal Stomach	stomach
22	chr22:29383400-29400200	Weak transcription	Right Atrium	heart
23	chr22:29383600-29400400	Weak transcription	Aorta	Aorta
24	chr22:29383800-29395400	Weak transcription	NHEK	skin
25	chr22:29383800-29399800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:29383800-29400000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr22:29384600-29395600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr22:29385000-29395200	Weak transcription	Left Ventricle	heart
29	chr22:29385000-29395600	Weak transcription	A549	lung
30	chr22:29385600-29389800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr22:29385600-29394600	Weak transcription	Fetal Kidney	kidney
32	chr22:29385600-29395400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr22:29385600-29400800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:29385600-29401000	Weak transcription	Colon Smooth Muscle	Colon
35	chr22:29385800-29391000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr22:29385800-29397800	Weak transcription	Fetal Lung	lung
37	chr22:29386000-29395600	Weak transcription	Osteobl	bone
38	chr22:29386200-29392200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr22:29386200-29395400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr22:29386200-29395600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr22:29386200-29400000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr22:29386400-29395400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr22:29386400-29395800	Weak transcription	HMEC	breast
44	chr22:29386600-29390200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:29386600-29395400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:29386800-29389600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr22:29386800-29390200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr22:29386800-29395600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr22:29387000-29395400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr22:29387400-29389400	Strong transcription	Liver	Liver

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