Variant report

Variant	rs10027991
Chromosome Location	chr4:48133730-48133731
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	chr4:48125513..48127919-chr4:48132756..48135155,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10938524	0.85[ASN][1000 genomes]
rs11944549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512766	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1507919	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860999	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2089510	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2243840	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2464502	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661529	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661533	0.82[EUR][1000 genomes]
rs2661543	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2661544	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2661547	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661548	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704399	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2704426	1.00[ASN][1000 genomes]
rs2704433	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2704435	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2704436	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704439	0.82[EUR][1000 genomes]
rs3805184	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695341	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6447616	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814443	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819592	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7659164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678246	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7689953	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs882715	0.85[EUR][1000 genomes];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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10027991	TXK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48123000-48137600	Weak transcription	Gastric	stomach
2	chr4:48129200-48136600	Enhancers	Fetal Heart	heart
3	chr4:48129400-48135000	Enhancers	Fetal Thymus	thymus
4	chr4:48129800-48140800	Weak transcription	Fetal Stomach	stomach
5	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:48130200-48134400	Weak transcription	Primary B cells from cord blood	blood
7	chr4:48130200-48137800	Weak transcription	Esophagus	oesophagus
8	chr4:48130400-48135400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:48130400-48137800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:48130400-48138400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:48130400-48139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:48130400-48139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:48130400-48152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
15	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
16	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
18	chr4:48130600-48135400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:48130600-48136000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:48130600-48137000	Weak transcription	Liver	Liver
21	chr4:48130600-48142800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:48130600-48146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:48130800-48133800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:48131000-48135600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr4:48131000-48137000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr4:48131000-48137800	Weak transcription	Aorta	Aorta
27	chr4:48131800-48135600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:48131800-48137400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:48131800-48141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:48131800-48142000	Weak transcription	NHLF	lung
31	chr4:48132000-48133800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:48132000-48134000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:48132000-48134600	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr4:48132000-48136000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:48132000-48136000	Weak transcription	Fetal Lung	lung
36	chr4:48132000-48137600	Weak transcription	Spleen	Spleen
37	chr4:48132000-48141400	Weak transcription	HUVEC	blood vessel
38	chr4:48132000-48141600	Weak transcription	NHDF-Ad	bronchial
39	chr4:48132000-48157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:48132000-48157200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:48132200-48134800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr4:48132200-48136200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr4:48132200-48137400	Weak transcription	Fetal Intestine Large	intestine
44	chr4:48132200-48137800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:48132200-48137800	Weak transcription	Fetal Intestine Small	intestine
46	chr4:48132200-48137800	Weak transcription	Lung	lung
47	chr4:48132200-48138800	Weak transcription	Stomach Mucosa	stomach
48	chr4:48132200-48139800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:48132200-48141800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:48132400-48133800	Strong transcription	Primary hematopoietic stem cells	blood

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