Variant report

Variant	rs242085
Chromosome Location	chr22:33221030-33221031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32920308-32927723..22:33219668-33224847	K562	blood:
2	chr22:33219487..33221924-chr22:33222975..33225306,3	K562	blood:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs130561	0.82[CHB][hapmap]
rs13057881	0.85[CHB][hapmap];0.88[YRI][hapmap]
rs135025	0.82[CHB][hapmap]
rs2016293	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2267180	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs242071	0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs242072	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs242075	0.88[ASN][1000 genomes]
rs242076	0.87[JPT][hapmap]
rs242077	0.87[JPT][hapmap]
rs242078	0.93[CHD][hapmap];0.95[JPT][hapmap];0.89[MKK][hapmap];0.87[ASN][1000 genomes]
rs242082	0.83[ASN][1000 genomes]
rs242088	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242089	0.83[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs713996	0.86[CHB][hapmap]
rs737089	0.91[CHB][hapmap]
rs738992	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9609632	0.86[CHB][hapmap];0.81[JPT][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs242085	GAL3ST1	cis	parietal	SCAN
rs242085	SLC5A4	cis	cerebellum	SCAN
rs242085	SLC5A4	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	chr22:33201200-33222800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:33201600-33226200	Weak transcription	NH-A	brain
4	chr22:33203200-33223600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr22:33204800-33227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr22:33206800-33224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:33207000-33226200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:33211000-33221400	Genic enhancers	Adipose Nuclei	Adipose
9	chr22:33211000-33225600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr22:33211000-33225800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr22:33211000-33240400	Genic enhancers	Left Ventricle	heart
12	chr22:33212600-33222600	Weak transcription	HSMMtube	muscle
13	chr22:33212600-33227000	Weak transcription	Liver	Liver
14	chr22:33213600-33227000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:33214800-33222600	Weak transcription	Fetal Lung	lung
16	chr22:33215200-33222800	Enhancers	Fetal Heart	heart
17	chr22:33215200-33225800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr22:33215400-33222800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:33215400-33225600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:33215600-33222800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:33216000-33226800	Weak transcription	Fetal Thymus	thymus
22	chr22:33216400-33225600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:33216800-33223600	Weak transcription	Fetal Brain Male	brain
24	chr22:33217200-33222800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr22:33217400-33221200	Enhancers	Stomach Smooth Muscle	stomach
26	chr22:33217400-33222600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr22:33217400-33226400	Weak transcription	Ovary	ovary
28	chr22:33217600-33221200	Enhancers	Right Atrium	heart
29	chr22:33217600-33222600	Weak transcription	NHEK	skin
30	chr22:33217800-33222200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr22:33217800-33226000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:33217800-33229000	Weak transcription	NHLF	lung
33	chr22:33217800-33248600	Weak transcription	Gastric	stomach
34	chr22:33218400-33222600	Weak transcription	HepG2	liver
35	chr22:33218600-33221200	Enhancers	Right Ventricle	heart
36	chr22:33218600-33222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr22:33218600-33222800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:33218600-33223600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr22:33218600-33226000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:33219000-33221400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr22:33219000-33221400	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr22:33219400-33221400	Enhancers	Fetal Muscle Leg	muscle
43	chr22:33219400-33221400	Genic enhancers	Fetal Stomach	stomach
44	chr22:33219800-33221800	Weak transcription	Osteobl	bone
45	chr22:33219800-33222600	Weak transcription	Lung	lung
46	chr22:33219800-33222800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr22:33219800-33222800	Weak transcription	Colonic Mucosa	Colon
48	chr22:33219800-33225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr22:33220000-33222200	Weak transcription	Psoas Muscle	Psoas
50	chr22:33220000-33222600	Weak transcription	Esophagus	oesophagus

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