Variant report

Variant	rs3827339
Chromosome Location	chr22:33113688-33113689
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10854627	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10854628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11089591	0.87[ASN][1000 genomes]
rs11913403	0.89[ASN][1000 genomes]
rs13054529	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs13058500	0.87[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1475978	0.86[JPT][hapmap]
rs1475979	0.86[JPT][hapmap]
rs16991028	0.86[JPT][hapmap]
rs16991084	0.87[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs2899193	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4821089	0.83[CHB][hapmap];0.83[YRI][hapmap]
rs5754222	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs5754226	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs5754227	0.87[CHB][hapmap]
rs7286819	0.90[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7291090	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs7291198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7291871	0.99[ASN][1000 genomes]
rs731933	0.87[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs743741	0.87[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs743742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743744	0.84[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs743745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8136470	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs9619301	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs997120	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33104400-33117000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:33105200-33113800	Weak transcription	NH-A	brain
3	chr22:33109000-33113800	Weak transcription	Spleen	Spleen
4	chr22:33109200-33115600	Weak transcription	Thymus	Thymus
5	chr22:33109400-33113800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr22:33109400-33115800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr22:33110400-33116800	Weak transcription	NHDF-Ad	bronchial
8	chr22:33111000-33118600	Weak transcription	HSMMtube	muscle
9	chr22:33111200-33114600	Enhancers	Fetal Stomach	stomach
10	chr22:33111400-33116800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:33112000-33114600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:33112000-33115000	Enhancers	Placenta	Placenta
13	chr22:33112200-33121400	Enhancers	Fetal Thymus	thymus
14	chr22:33112400-33114000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr22:33112400-33114800	Enhancers	Fetal Muscle Leg	muscle
16	chr22:33113000-33113800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr22:33113000-33114400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr22:33113000-33121600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:33113200-33114000	Enhancers	Right Ventricle	heart
20	chr22:33113200-33114200	Enhancers	Osteobl	bone
21	chr22:33113200-33114400	Enhancers	Colon Smooth Muscle	Colon
22	chr22:33113200-33114400	Enhancers	Fetal Lung	lung
23	chr22:33113200-33114400	Enhancers	Left Ventricle	heart
24	chr22:33113200-33114400	Enhancers	Lung	lung
25	chr22:33113200-33114400	Enhancers	Right Atrium	heart
26	chr22:33113200-33114400	Enhancers	NHLF	lung
27	chr22:33113200-33114600	Enhancers	NHEK	skin
28	chr22:33113200-33115000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:33113400-33113800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr22:33113400-33114200	Enhancers	Esophagus	oesophagus
31	chr22:33113400-33114400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:33113400-33114400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:33113400-33114400	Enhancers	Adipose Nuclei	Adipose
34	chr22:33113400-33114400	Enhancers	Fetal Intestine Small	intestine
35	chr22:33113400-33114400	Enhancers	Fetal Muscle Trunk	muscle
36	chr22:33113400-33114400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr22:33113400-33120400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr22:33113600-33113800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr22:33113600-33113800	Enhancers	Colonic Mucosa	Colon
40	chr22:33113600-33113800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr22:33113600-33114000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:33113600-33114000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr22:33113600-33114400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:33113600-33115000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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