Variant report

Variant	rs5752866
Chromosome Location	chr22:29498118-29498119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29473292..29476167-chr22:29497836..29499455,2	K562	blood:
2	chr22:29492716..29496133-chr22:29496800..29499655,3	K562	blood:
3	chr22:29497955..29499700-chr22:29664915..29667489,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13058510	0.92[EUR][1000 genomes]
rs2205771	1.00[GIH][hapmap]
rs2294242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34101206	0.93[EUR][1000 genomes]
rs34967120	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5752863	0.93[EUR][1000 genomes]
rs5762981	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5762982	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5762985	0.95[EUR][1000 genomes]
rs5762986	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5762987	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs71327333	0.86[EUR][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	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
2	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
3	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
5	chr22:29488400-29521200	Weak transcription	Lung	lung
6	chr22:29489600-29499800	Strong transcription	Dnd41	blood
7	chr22:29490000-29501600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr22:29490000-29505200	Weak transcription	Aorta	Aorta
9	chr22:29490000-29514000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr22:29490200-29502800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:29490200-29503600	Weak transcription	HMEC	breast
12	chr22:29490400-29499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:29490400-29501400	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:29490400-29508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
16	chr22:29491200-29521200	Weak transcription	Colonic Mucosa	Colon
17	chr22:29491600-29522200	Weak transcription	Liver	Liver
18	chr22:29491800-29503600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:29491800-29504400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr22:29491800-29505400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr22:29492000-29501000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr22:29492000-29503800	Weak transcription	NHDF-Ad	bronchial
23	chr22:29493200-29498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:29493200-29499000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:29493200-29501400	Weak transcription	Ovary	ovary
26	chr22:29493200-29501600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:29493200-29503600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr22:29493200-29504200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr22:29493200-29504400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:29493200-29505400	Weak transcription	Right Ventricle	heart
31	chr22:29493200-29511600	Weak transcription	Gastric	stomach
32	chr22:29493200-29521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr22:29493200-29521200	Weak transcription	Pancreas	Pancrea
34	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr22:29493400-29498200	Weak transcription	Brain Angular Gyrus	brain
36	chr22:29493400-29498800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:29493400-29499000	Weak transcription	HSMMtube	muscle
38	chr22:29493400-29499200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr22:29493400-29505400	Weak transcription	Small Intestine	intestine
40	chr22:29493400-29516400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr22:29493600-29498200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr22:29493600-29502600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:29493800-29498600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:29493800-29501200	Strong transcription	Fetal Intestine Small	intestine
45	chr22:29493800-29511600	Weak transcription	Fetal Heart	heart
46	chr22:29494200-29505400	Weak transcription	HepG2	liver
47	chr22:29494400-29498400	Strong transcription	Fetal Thymus	thymus
48	chr22:29494600-29506000	Weak transcription	Left Ventricle	heart
49	chr22:29494800-29499400	Strong transcription	Thymus	Thymus
50	chr22:29494800-29501200	Strong transcription	Fetal Muscle Leg	muscle

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