Variant report

Variant	rs695609
Chromosome Location	chr22:28834404-28834405
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28828789..28831593-chr22:28834204..28836919,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2013784	0.89[ASN][1000 genomes]
rs2144922	0.89[ASN][1000 genomes]
rs2180459	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2346866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2881496	0.89[ASN][1000 genomes]
rs5752756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5762667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5762681	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5762696	1.00[CHB][hapmap]
rs5762706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6005807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs62237575	0.83[ASN][1000 genomes]
rs695289	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695294	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs695305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs695344	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695346	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695365	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs695442	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695529	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs695555	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695571	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs695580	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs695626	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695627	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695656	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28820800-28837400	Weak transcription	HSMMtube	muscle
2	chr22:28821400-28836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr22:28822200-28837800	Weak transcription	Left Ventricle	heart
4	chr22:28823000-28837000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:28827000-28837000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:28827200-28836200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr22:28827200-28836200	Weak transcription	Brain Germinal Matrix	brain
8	chr22:28827200-28836400	Weak transcription	Brain Anterior Caudate	brain
9	chr22:28827200-28836400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr22:28827200-28837400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr22:28829400-28834800	Weak transcription	Osteobl	bone
12	chr22:28829400-28837600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:28831000-28836400	Weak transcription	Aorta	Aorta
14	chr22:28831800-28836400	Weak transcription	Brain Substantia Nigra	brain
15	chr22:28832000-28836400	Weak transcription	Liver	Liver
16	chr22:28832200-28836400	Weak transcription	Adipose Nuclei	Adipose
17	chr22:28832400-28834600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr22:28832400-28836200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:28832400-28836400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr22:28832400-28836400	Weak transcription	NHLF	lung
21	chr22:28832400-28836600	Weak transcription	Fetal Heart	heart
22	chr22:28832400-28837000	Weak transcription	Small Intestine	intestine
23	chr22:28832600-28836000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:28832600-28836000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:28832600-28836200	Weak transcription	NHDF-Ad	bronchial
26	chr22:28832600-28836800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:28832800-28835400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:28832800-28837800	Weak transcription	HMEC	breast
29	chr22:28833400-28835800	Flanking Active TSS	Dnd41	blood
30	chr22:28833400-28840000	Active TSS	Fetal Brain Female	brain
31	chr22:28833600-28834800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr22:28833600-28835000	Enhancers	Fetal Lung	lung
33	chr22:28833600-28837600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr22:28833800-28837600	Weak transcription	Right Atrium	heart
35	chr22:28833800-28838000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:28833800-28838000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr22:28834000-28835200	Weak transcription	Ovary	ovary
38	chr22:28834000-28836400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:28834000-28836600	Weak transcription	Fetal Kidney	kidney
40	chr22:28834000-28837600	Weak transcription	NHEK	skin
41	chr22:28834000-28837800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:28834000-28837800	Weak transcription	Psoas Muscle	Psoas
43	chr22:28834200-28834800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:28834200-28835000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:28834400-28834800	Flanking Active TSS	Fetal Brain Male	brain
46	chr22:28834400-28835400	Weak transcription	Colon Smooth Muscle	Colon

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