Variant report

Variant	rs1072967
Chromosome Location	chr22:28694210-28694211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11912165	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12163372	0.81[EUR][1000 genomes]
rs16986346	0.84[EUR][1000 genomes]
rs2064360	0.90[CHB][hapmap]
rs28720063	0.88[ASN][1000 genomes]
rs5752718	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs5762478	0.90[CHB][hapmap]
rs5762492	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs5762495	0.80[ASN][1000 genomes]
rs5762498	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs5762506	0.88[ASN][1000 genomes]
rs5762508	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs5762540	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5762632	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs5997354	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60891699	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9613574	1.00[YRI][hapmap]

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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28679400-28695800	Weak transcription	Aorta	Aorta
2	chr22:28680200-28696000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr22:28680200-28696000	Weak transcription	NHDF-Ad	bronchial
4	chr22:28680200-28702000	Weak transcription	Osteobl	bone
5	chr22:28681600-28695200	Weak transcription	Fetal Lung	lung
6	chr22:28683400-28698200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr22:28685000-28704400	Weak transcription	Fetal Intestine Small	intestine
8	chr22:28686400-28695400	Weak transcription	Fetal Muscle Leg	muscle
9	chr22:28688600-28695400	Weak transcription	Ovary	ovary
10	chr22:28688800-28695000	Weak transcription	Fetal Brain Female	brain
11	chr22:28690000-28702200	Weak transcription	Fetal Intestine Large	intestine
12	chr22:28690600-28695800	Strong transcription	Dnd41	blood
13	chr22:28692000-28695400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:28692000-28695400	Weak transcription	Adipose Nuclei	Adipose
15	chr22:28692200-28698000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr22:28693000-28696800	Enhancers	Brain Hippocampus Middle	brain
17	chr22:28693200-28694800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:28693200-28705600	Weak transcription	HepG2	liver
19	chr22:28693600-28694400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:28693600-28694600	Enhancers	Right Atrium	heart
21	chr22:28693600-28694600	Enhancers	Right Ventricle	heart
22	chr22:28693800-28694400	Weak transcription	Left Ventricle	heart
23	chr22:28693800-28695400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:28693800-28695400	Weak transcription	Fetal Heart	heart
25	chr22:28693800-28702200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:28693800-28704000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:28693800-28709200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr22:28693800-28710400	Weak transcription	Fetal Stomach	stomach
29	chr22:28693800-28716000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr22:28694000-28694600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:28694000-28705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr22:28694200-28694400	Enhancers	Brain Cingulate Gyrus	brain
33	chr22:28694200-28694600	Enhancers	Brain Angular Gyrus	brain
34	chr22:28694200-28694600	Enhancers	Brain Anterior Caudate	brain
35	chr22:28694200-28694600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr22:28694200-28694600	Enhancers	Small Intestine	intestine
37	chr22:28694200-28696000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr22:28694200-28696000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:28694200-28696000	Weak transcription	Liver	Liver
40	chr22:28694200-28696200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:28694200-28697000	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links