Variant report

Variant	rs242091
Chromosome Location	chr14:69475189-69475190
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	chr14:69469601..69471600-chr14:69472625..69475481,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10151419	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1147479	1.00[ASW][hapmap]
rs11620980	1.00[ASN][1000 genomes]
rs11623192	0.95[CEU][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1275194	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012752	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014607	1.00[ASW][hapmap]
rs242096	1.00[ASN][1000 genomes]
rs242097	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242099	1.00[ASN][1000 genomes]
rs242100	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs242101	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs242102	1.00[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242104	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs242109	0.91[CEU][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs398504	1.00[ASN][1000 genomes]
rs4083451	1.00[ASN][1000 genomes]
rs436106	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446091	0.84[AMR][1000 genomes]
rs4899275	0.95[CEU][hapmap];1.00[ASN][1000 genomes]
rs4902681	1.00[ASN][1000 genomes]
rs4902683	0.95[CEU][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56060157	1.00[ASN][1000 genomes]
rs61981591	1.00[ASN][1000 genomes]
rs761898	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes]
rs927064	0.95[CEU][hapmap];1.00[ASN][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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs242091	GALNTL1	cis	cerebellum	SCAN
rs242091	MAP3K9	cis	cerebellum	SCAN
rs242091	ADAM21	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69472400-69475800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:69472400-69480400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:69472600-69475400	Weak transcription	Stomach Mucosa	stomach
4	chr14:69472600-69475600	Weak transcription	Placenta	Placenta
5	chr14:69472800-69475200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:69472800-69475200	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:69472800-69477200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:69472800-69480800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:69472800-69481000	Weak transcription	Esophagus	oesophagus
10	chr14:69473000-69475200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:69473000-69475200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:69473000-69475200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:69473000-69475200	Weak transcription	Adipose Nuclei	Adipose
14	chr14:69473000-69475200	Weak transcription	HSMMtube	muscle
15	chr14:69473000-69475400	Weak transcription	NH-A	brain
16	chr14:69473000-69476800	Weak transcription	Hela-S3	cervix
17	chr14:69473000-69477200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:69473000-69477200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:69473000-69479600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:69473000-69479600	Weak transcription	NHLF	lung
21	chr14:69473000-69480600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:69473000-69480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:69473000-69480600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:69473000-69482600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:69473000-69503600	Weak transcription	Right Atrium	heart
26	chr14:69473200-69475200	Weak transcription	Aorta	Aorta
27	chr14:69473200-69475200	Weak transcription	Osteobl	bone
28	chr14:69473200-69475400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:69473200-69477400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:69473200-69480400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:69473200-69480400	Weak transcription	HUVEC	blood vessel
32	chr14:69473200-69480800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:69473400-69475600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr14:69473400-69481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:69473800-69475400	Weak transcription	A549	lung
36	chr14:69474000-69480400	Weak transcription	HepG2	liver
37	chr14:69474600-69475800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:69474600-69475800	Enhancers	Fetal Stomach	stomach
39	chr14:69474800-69475200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:69474800-69476000	Enhancers	Fetal Muscle Leg	muscle
41	chr14:69474800-69477000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:69475000-69475600	Enhancers	Rectal Smooth Muscle	rectum
43	chr14:69475000-69475800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:69475000-69476000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links