Variant report

Variant	rs80272
Chromosome Location	chr22:33224779-33224780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33224042..33225642-chr22:33228223..33230705,2	MCF-7	breast:
2	chr22:33219487..33221924-chr22:33222975..33225306,3	K562	blood:
3	22:32920308-32927723..22:33219668-33224847	K562	blood:
4	chr22:33223873..33228070-chr22:33230052..33232364,3	K562	blood:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs130290	0.92[YRI][hapmap]
rs130295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130296	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130297	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130535	0.82[TSI][hapmap]
rs135150	0.85[MEX][hapmap];0.82[TSI][hapmap]
rs171383	0.92[YRI][hapmap]
rs181425	0.92[YRI][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs80272	SFI1	cis	cerebellum	SCAN
rs80272	RIT1	trans	cerebellum	SCAN
rs80272	DRG1	cis	parietal	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33201000-33227400	Weak transcription	Aorta	Aorta
2	chr22:33201600-33226200	Weak transcription	NH-A	brain
3	chr22:33204800-33227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:33207000-33226200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:33211000-33225600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr22:33211000-33225800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:33211000-33240400	Genic enhancers	Left Ventricle	heart
8	chr22:33212600-33227000	Weak transcription	Liver	Liver
9	chr22:33213600-33227000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:33215200-33225800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:33215400-33225600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:33216000-33226800	Weak transcription	Fetal Thymus	thymus
13	chr22:33216400-33225600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:33217400-33226400	Weak transcription	Ovary	ovary
15	chr22:33217800-33226000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr22:33217800-33229000	Weak transcription	NHLF	lung
17	chr22:33217800-33248600	Weak transcription	Gastric	stomach
18	chr22:33218600-33226000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:33219800-33225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:33220600-33229800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr22:33221800-33226200	Strong transcription	Osteobl	bone
22	chr22:33221800-33228400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:33222200-33226400	Enhancers	Psoas Muscle	Psoas
24	chr22:33222200-33236000	Enhancers	Right Atrium	heart
25	chr22:33222400-33229000	Genic enhancers	Fetal Stomach	stomach
26	chr22:33222600-33224800	Enhancers	Fetal Kidney	kidney
27	chr22:33222600-33224800	Enhancers	Rectal Smooth Muscle	rectum
28	chr22:33222600-33225000	Enhancers	Spleen	Spleen
29	chr22:33222600-33226200	Enhancers	Brain Angular Gyrus	brain
30	chr22:33222600-33226400	Genic enhancers	Placenta	Placenta
31	chr22:33222600-33227000	Enhancers	NHDF-Ad	bronchial
32	chr22:33222600-33227200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr22:33222600-33228000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr22:33222600-33230800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr22:33222600-33240400	Genic enhancers	Adipose Nuclei	Adipose
36	chr22:33222600-33258800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:33222800-33226400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:33222800-33226600	Strong transcription	HepG2	liver
39	chr22:33222800-33228000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr22:33222800-33228200	Enhancers	Brain Hippocampus Middle	brain
41	chr22:33222800-33238200	Genic enhancers	Fetal Muscle Leg	muscle
42	chr22:33223000-33228200	Enhancers	Brain Substantia Nigra	brain
43	chr22:33223200-33225200	Weak transcription	Fetal Intestine Small	intestine
44	chr22:33223200-33225800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:33223200-33225800	Weak transcription	HSMM	muscle
46	chr22:33223200-33226400	Enhancers	Fetal Heart	heart
47	chr22:33223200-33232600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:33223400-33225200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr22:33223400-33225400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr22:33223400-33225800	Genic enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links