Variant report

Variant	rs2235542
Chromosome Location	chr1:209807815-209807816
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	chr1:209806336..209810218-chr1:209810896..209813908,3	K562	blood:
2	chr1:209805843..209807817-chr1:209809297..209811266,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10489340	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12073223	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12089972	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090288	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12403733	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MKK][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12410975	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17014889	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17014906	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17014942	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17014955	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17015006	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs2072937	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2072939	1.00[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2072942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2076219	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076222	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076232	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076347	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076348	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076349	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs2076352	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2229465	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.87[AMR][1000 genomes]
rs2229466	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2236889	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2236890	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2282734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2282736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2282737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36051870	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58679997	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59815577	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60927005	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs714971	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2235542	DIEXF	cis	lymphoblastoid	seeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209787200-209808400	Strong transcription	Placenta Amnion	Placenta Amnion
2	chr1:209787400-209816200	Strong transcription	NHEK	skin
3	chr1:209799800-209814600	Strong transcription	Fetal Intestine Small	intestine
4	chr1:209800000-209813200	Strong transcription	Fetal Intestine Large	intestine
5	chr1:209801200-209811600	Weak transcription	Stomach Mucosa	stomach
6	chr1:209801200-209814800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:209801400-209812800	Weak transcription	Pancreas	Pancrea
8	chr1:209801400-209814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:209801600-209808200	Weak transcription	Fetal Lung	lung
10	chr1:209801600-209814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:209801600-209818000	Weak transcription	Spleen	Spleen
12	chr1:209801600-209819800	Weak transcription	Lung	lung
13	chr1:209801800-209812000	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr1:209803600-209813200	Strong transcription	Hela-S3	cervix
15	chr1:209804400-209816600	Weak transcription	Small Intestine	intestine
16	chr1:209805200-209808000	Genic enhancers	HMEC	breast
17	chr1:209805200-209809600	Weak transcription	Psoas Muscle	Psoas
18	chr1:209805200-209814600	Weak transcription	Adipose Nuclei	Adipose
19	chr1:209805400-209809600	Weak transcription	Right Atrium	heart
20	chr1:209805400-209814600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:209805400-209814600	Weak transcription	Right Ventricle	heart
22	chr1:209805400-209816200	Weak transcription	Esophagus	oesophagus
23	chr1:209805600-209808000	Weak transcription	Fetal Heart	heart
24	chr1:209805600-209809600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:209805600-209809800	Weak transcription	Left Ventricle	heart
26	chr1:209805800-209809400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:209806200-209808600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr1:209806200-209813200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:209806800-209809800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:209807000-209808000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:209807000-209808000	Strong transcription	Fetal Stomach	stomach
32	chr1:209807000-209808000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:209807000-209808400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:209807000-209808400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:209807200-209808000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:209807400-209809200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:209807600-209808000	Strong transcription	Gastric	stomach
38	chr1:209807600-209808200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:209807600-209808400	Strong transcription	Colonic Mucosa	Colon
40	chr1:209807800-209808200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:209807800-209808200	Weak transcription	Osteobl	bone
42	chr1:209807800-209809800	Weak transcription	Rectal Mucosa Donor 29	rectum

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