Variant report

Variant	rs885443
Chromosome Location	chr4:48132891-48132892
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	chr4:48125513..48127919-chr4:48132756..48135155,2	K562	blood:
2	chr4:48131478..48133698-chr4:48139197..48141386,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1008277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805164	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs10805165	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs10938522	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11730441	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11733531	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941829	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945978	0.92[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs12502268	0.89[EUR][1000 genomes]
rs12502528	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12512837	0.89[EUR][1000 genomes]
rs12649067	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13104849	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap]
rs13146998	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1466990	0.89[EUR][1000 genomes]
rs1466991	0.89[EUR][1000 genomes]
rs1466992	0.89[EUR][1000 genomes]
rs1466993	0.89[EUR][1000 genomes]
rs1466994	0.92[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs1466995	0.89[EUR][1000 genomes]
rs1466996	0.89[EUR][1000 genomes]
rs1961974	0.89[EUR][1000 genomes]
rs1961975	0.92[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs2071027	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2089509	0.92[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs2089511	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs2256425	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2271173	0.89[CEU][hapmap];0.89[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs2271174	0.89[EUR][1000 genomes]
rs34990592	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792620	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs3792621	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3792622	1.00[CEU][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs3805179	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs3913948	0.93[EUR][1000 genomes]
rs4323077	0.89[EUR][1000 genomes]
rs4392481	0.89[EUR][1000 genomes]
rs4392482	0.90[EUR][1000 genomes]
rs4504220	0.88[EUR][1000 genomes]
rs4695338	0.91[YRI][hapmap]
rs4695339	0.89[EUR][1000 genomes]
rs4695340	0.92[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs4695342	0.89[EUR][1000 genomes]
rs4695343	0.89[EUR][1000 genomes]
rs4695344	0.92[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs4695346	0.89[EUR][1000 genomes]
rs4695347	0.89[EUR][1000 genomes]
rs4695348	0.89[EUR][1000 genomes]
rs4695349	0.89[EUR][1000 genomes]
rs4695350	0.89[EUR][1000 genomes]
rs61326763	0.87[EUR][1000 genomes]
rs62309327	0.89[EUR][1000 genomes]
rs6844543	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6845941	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6851861	0.89[EUR][1000 genomes]
rs6858716	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654108	0.89[EUR][1000 genomes]
rs7668350	0.88[EUR][1000 genomes]
rs7669393	0.89[EUR][1000 genomes]
rs7670351	0.89[EUR][1000 genomes]
rs7671720	0.87[EUR][1000 genomes]
rs7680519	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695902	0.89[EUR][1000 genomes]
rs7696119	0.89[EUR][1000 genomes]
rs7696271	0.89[EUR][1000 genomes]
rs955691	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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
rs885443	FRYL	cis	cerebellum	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48123000-48137600	Weak transcription	Gastric	stomach
2	chr4:48126600-48133400	Enhancers	K562	blood
3	chr4:48129200-48136600	Enhancers	Fetal Heart	heart
4	chr4:48129400-48135000	Enhancers	Fetal Thymus	thymus
5	chr4:48129800-48140800	Weak transcription	Fetal Stomach	stomach
6	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:48130200-48134400	Weak transcription	Primary B cells from cord blood	blood
8	chr4:48130200-48137800	Weak transcription	Esophagus	oesophagus
9	chr4:48130400-48133000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:48130400-48133000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:48130400-48133400	Weak transcription	Small Intestine	intestine
12	chr4:48130400-48135400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:48130400-48137800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:48130400-48138400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:48130400-48139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:48130400-48139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:48130400-48152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
19	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
20	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
22	chr4:48130600-48135400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:48130600-48136000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:48130600-48137000	Weak transcription	Liver	Liver
25	chr4:48130600-48142800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:48130600-48146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:48130800-48133800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:48131000-48133200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr4:48131000-48135600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr4:48131000-48137000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr4:48131000-48137800	Weak transcription	Aorta	Aorta
32	chr4:48131400-48133000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
33	chr4:48131400-48133200	Enhancers	Left Ventricle	heart
34	chr4:48131400-48133600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr4:48131800-48133000	Enhancers	Placenta	Placenta
36	chr4:48131800-48135600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:48131800-48137400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:48131800-48141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:48131800-48142000	Weak transcription	NHLF	lung
40	chr4:48132000-48133200	Enhancers	Hela-S3	cervix
41	chr4:48132000-48133800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:48132000-48134000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:48132000-48134600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr4:48132000-48136000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:48132000-48136000	Weak transcription	Fetal Lung	lung
46	chr4:48132000-48137600	Weak transcription	Spleen	Spleen
47	chr4:48132000-48141400	Weak transcription	HUVEC	blood vessel
48	chr4:48132000-48141600	Weak transcription	NHDF-Ad	bronchial
49	chr4:48132000-48157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:48132000-48157200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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