Variant report

Variant	rs7514183
Chromosome Location	chr1:174887879-174887880
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	chr1:174887340..174889022-chr1:174889094..174890762,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1012182	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10912853	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10912854	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10912855	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12063093	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12078839	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12094876	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1231829	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1618408	0.85[EUR][1000 genomes]
rs162815	0.82[EUR][1000 genomes]
rs1653636	0.81[EUR][1000 genomes]
rs17302033	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1754360	0.83[EUR][1000 genomes]
rs1793307	0.85[EUR][1000 genomes]
rs1793310	0.85[EUR][1000 genomes]
rs1793313	0.87[EUR][1000 genomes]
rs1793315	0.80[EUR][1000 genomes]
rs1894198	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1894199	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2981892	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs332763	0.83[EUR][1000 genomes]
rs332764	0.83[EUR][1000 genomes]
rs332772	0.83[EUR][1000 genomes]
rs332784	0.83[EUR][1000 genomes]
rs332798	0.82[EUR][1000 genomes]
rs333423	0.82[EUR][1000 genomes]
rs333437	0.82[EUR][1000 genomes]
rs333471	0.83[EUR][1000 genomes]
rs459078	0.82[EUR][1000 genomes]
rs4651205	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4651231	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4651235	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55793234	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58030712	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60482554	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6425300	0.81[AMR][1000 genomes]
rs6425301	0.81[AMR][1000 genomes]
rs6425303	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425304	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6425306	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6671196	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6671272	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6671782	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6675528	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66836419	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6684229	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6684515	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6686872	0.81[AMR][1000 genomes]
rs6693979	0.81[AMR][1000 genomes]
rs6700953	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67133776	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67203477	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67903803	0.82[EUR][1000 genomes]
rs72717637	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72717649	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72717650	0.82[EUR][1000 genomes]
rs72717653	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72717661	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7516410	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7543147	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs913687	0.86[EUR][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	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7514183	RABGAP1L	cis	Esophagus Muscularis	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174861400-174902400	Weak transcription	Left Ventricle	heart
2	chr1:174872000-174889200	Weak transcription	Primary B cells from cord blood	blood
3	chr1:174872400-174888800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:174872800-174900400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:174873400-174897200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:174874000-174910000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:174876800-174933600	Weak transcription	Aorta	Aorta
9	chr1:174883600-174889200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:174883600-174900600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:174883800-174889600	Weak transcription	Fetal Lung	lung
12	chr1:174885000-174888000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:174885400-174892600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:174886000-174891400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:174886000-174897000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:174886000-174907200	Weak transcription	Primary T cells from cord blood	blood
17	chr1:174886200-174889000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:174886200-174889400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:174886400-174888400	Weak transcription	Fetal Intestine Large	intestine
20	chr1:174886400-174889400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:174886400-174891200	Weak transcription	Gastric	stomach
22	chr1:174886400-174896600	Weak transcription	Pancreas	Pancrea
23	chr1:174886400-174911600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:174886600-174889000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:174886600-174889000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:174886800-174888800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:174887400-174888600	Strong transcription	Fetal Intestine Small	intestine
28	chr1:174887400-174890000	Strong transcription	H1 Cell Line	embryonic stem cell

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