Variant report

Variant	rs130293
Chromosome Location	chr22:33221939-33221940
allele	C/T
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:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs107614	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs130290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs130301	1.00[CHB][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs130302	1.00[CHB][hapmap]
rs130305	1.00[CHB][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs130550	0.85[EUR][1000 genomes]
rs130554	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs130558	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs135026	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs135028	1.00[CHB][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs135153	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes]
rs171383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs181425	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242084	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs25027	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73158312	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs80267	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

No data

Chromatin state (count:73 , 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	chr22:33211000-33225600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr22:33211000-33225800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:33211000-33240400	Genic enhancers	Left Ventricle	heart
11	chr22:33212600-33222600	Weak transcription	HSMMtube	muscle
12	chr22:33212600-33227000	Weak transcription	Liver	Liver
13	chr22:33213600-33227000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:33214800-33222600	Weak transcription	Fetal Lung	lung
15	chr22:33215200-33222800	Enhancers	Fetal Heart	heart
16	chr22:33215200-33225800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr22:33215400-33222800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:33215400-33225600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:33215600-33222800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr22:33216000-33226800	Weak transcription	Fetal Thymus	thymus
21	chr22:33216400-33225600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:33216800-33223600	Weak transcription	Fetal Brain Male	brain
23	chr22:33217200-33222800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr22:33217400-33222600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr22:33217400-33226400	Weak transcription	Ovary	ovary
26	chr22:33217600-33222600	Weak transcription	NHEK	skin
27	chr22:33217800-33222200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:33217800-33226000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr22:33217800-33229000	Weak transcription	NHLF	lung
30	chr22:33217800-33248600	Weak transcription	Gastric	stomach
31	chr22:33218400-33222600	Weak transcription	HepG2	liver
32	chr22:33218600-33222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr22:33218600-33222800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:33218600-33223600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:33218600-33226000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:33219800-33222600	Weak transcription	Lung	lung
37	chr22:33219800-33222800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:33219800-33222800	Weak transcription	Colonic Mucosa	Colon
39	chr22:33219800-33225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:33220000-33222200	Weak transcription	Psoas Muscle	Psoas
41	chr22:33220000-33222600	Weak transcription	Esophagus	oesophagus
42	chr22:33220200-33222600	Weak transcription	HSMM	muscle
43	chr22:33220600-33222200	Enhancers	Colon Smooth Muscle	Colon
44	chr22:33220600-33229800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr22:33220800-33222600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr22:33221000-33222400	Weak transcription	HMEC	breast
47	chr22:33221000-33222600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:33221000-33222600	Weak transcription	Brain Angular Gyrus	brain
49	chr22:33221000-33222800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr22:33221200-33222200	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links