Variant report

Variant	rs11914089
Chromosome Location	chr22:31035876-31035877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31034760..31036669-chr22:31038109..31039739,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12168004	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13433541	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16988936	0.98[ASN][1000 genomes]
rs2013928	1.00[ASN][1000 genomes]
rs2072195	0.89[ASN][1000 genomes]
rs2267165	0.83[ASN][1000 genomes]
rs2267166	0.84[ASN][1000 genomes]
rs55844758	0.99[ASN][1000 genomes]
rs5994329	0.93[ASN][1000 genomes]
rs5997719	1.00[ASN][1000 genomes]
rs5997728	0.93[ASN][1000 genomes]
rs72558391	0.89[ASN][1000 genomes]
rs73398305	0.84[ASN][1000 genomes]
rs8135379	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8135450	0.98[ASN][1000 genomes]
rs8141515	0.84[ASN][1000 genomes]
rs9306264	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9606761	0.91[ASN][1000 genomes]
rs9606762	0.90[ASN][1000 genomes]
rs9619128	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9621051	0.96[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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31032400-31052400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:31032800-31046600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31033200-31036400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr22:31033200-31039200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr22:31033200-31052000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:31033400-31036400	Weak transcription	Psoas Muscle	Psoas
7	chr22:31033400-31036600	Weak transcription	Fetal Heart	heart
8	chr22:31033400-31058200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr22:31033600-31058000	Weak transcription	Adipose Nuclei	Adipose
10	chr22:31033600-31058000	Weak transcription	Fetal Lung	lung
11	chr22:31033800-31036400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:31033800-31039000	Weak transcription	HSMMtube	muscle
13	chr22:31033800-31039400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:31033800-31039400	Weak transcription	NHLF	lung
15	chr22:31033800-31042600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr22:31033800-31046600	Weak transcription	Fetal Intestine Small	intestine
17	chr22:31033800-31057600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:31034000-31036200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:31034000-31036400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:31034000-31036400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:31034000-31036400	Weak transcription	Brain Anterior Caudate	brain
22	chr22:31034000-31036400	Weak transcription	Right Atrium	heart
23	chr22:31034000-31036400	Weak transcription	Right Ventricle	heart
24	chr22:31034000-31036400	Weak transcription	GM12878-XiMat	blood
25	chr22:31034000-31036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:31034000-31036600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr22:31034000-31036600	Weak transcription	Brain Angular Gyrus	brain
28	chr22:31034000-31036600	Weak transcription	Esophagus	oesophagus
29	chr22:31034000-31036600	Weak transcription	Fetal Stomach	stomach
30	chr22:31034000-31036600	Weak transcription	Gastric	stomach
31	chr22:31034000-31036600	Weak transcription	Left Ventricle	heart
32	chr22:31034000-31036800	Weak transcription	Colonic Mucosa	Colon
33	chr22:31034000-31036800	Weak transcription	Fetal Muscle Leg	muscle
34	chr22:31034000-31036800	Weak transcription	Lung	lung
35	chr22:31034000-31036800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr22:31034000-31039400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr22:31034000-31039400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:31034000-31039400	Weak transcription	Fetal Brain Male	brain
39	chr22:31034000-31039400	Weak transcription	Pancreas	Pancrea
40	chr22:31034000-31039400	Weak transcription	Osteobl	bone
41	chr22:31034000-31039600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr22:31034000-31039800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr22:31034000-31039800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr22:31034000-31042200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr22:31034000-31042400	Weak transcription	Brain Germinal Matrix	brain
46	chr22:31034000-31043000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr22:31034000-31045000	Weak transcription	HUVEC	blood vessel
48	chr22:31034000-31045000	Weak transcription	NHEK	skin
49	chr22:31034000-31045200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr22:31034000-31045400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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