Variant report

Variant	rs1415072
Chromosome Location	chr1:185184233-185184234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1008502	0.89[CHB][hapmap]
rs10218496	0.83[EUR][1000 genomes]
rs10453829	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10489579	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10489580	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10489581	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs10798000	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10911674	0.89[CHB][hapmap];0.80[CHD][hapmap]
rs10911693	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs12022419	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs12024023	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12028408	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12035073	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs12037692	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs12038919	0.89[CHB][hapmap];0.80[CHD][hapmap]
rs12043427	0.89[CHB][hapmap];0.82[CHD][hapmap]
rs12043495	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs12043617	0.89[CHB][hapmap];0.80[CHD][hapmap]
rs12045671	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12046095	0.89[CHB][hapmap]
rs12096987	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12118722	0.83[EUR][1000 genomes]
rs12119471	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12120377	0.81[EUR][1000 genomes]
rs12127840	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12135172	0.92[CEU][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12141722	0.94[EUR][1000 genomes]
rs12404187	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12408279	0.89[CHB][hapmap];0.80[CHD][hapmap]
rs12409926	0.89[CHB][hapmap];0.80[CHD][hapmap]
rs1336752	0.92[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs1407554	0.89[CHB][hapmap]
rs1591585	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1969750	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2025227	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2050566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2146328	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2378958	0.89[CHB][hapmap];0.80[CHD][hapmap]
rs2383269	0.92[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3766717	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3766720	0.89[CHB][hapmap];0.80[CHD][hapmap]
rs3766723	0.89[CHB][hapmap];0.80[CHD][hapmap]
rs57188163	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57731138	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6424972	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6424974	0.83[EUR][1000 genomes]
rs6660169	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6666742	0.92[CEU][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6670117	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6673303	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6674490	0.84[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap]
rs6684586	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs6698109	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs6698122	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7512290	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7522617	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7533198	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7535064	0.81[EUR][1000 genomes]
rs7539658	0.92[CEU][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7543962	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs7550586	0.92[CEU][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs7552662	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7556183	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs951428	0.92[CEU][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	esv1846729	chr1:185175837-185194885	Strong transcription Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1415072	RNASEL	cis	parietal	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127400-185192000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:185127600-185184600	Weak transcription	Psoas Muscle	Psoas
3	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
4	chr1:185128400-185193800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:185128400-185201800	Weak transcription	Gastric	stomach
6	chr1:185134600-185193200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:185137200-185191400	Weak transcription	Brain Anterior Caudate	brain
8	chr1:185137400-185191200	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:185137400-185191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:185138000-185186200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:185138000-185204000	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:185139800-185191400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:185140000-185190800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:185140000-185191600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:185145200-185191400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:185148400-185193400	Weak transcription	Fetal Thymus	thymus
17	chr1:185151000-185193200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:185152200-185200800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:185153200-185191600	Weak transcription	Aorta	Aorta
20	chr1:185154400-185191600	Weak transcription	Ovary	ovary
21	chr1:185160000-185192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:185160600-185191600	Weak transcription	Brain Germinal Matrix	brain
23	chr1:185160800-185192000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:185161800-185191400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:185162000-185190800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:185163600-185190600	Weak transcription	Placenta	Placenta
27	chr1:185168000-185201800	Weak transcription	Primary T cells from cord blood	blood
28	chr1:185168200-185191400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:185168400-185192200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:185170400-185192000	Weak transcription	Fetal Intestine Large	intestine
31	chr1:185170800-185191600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:185170800-185191600	Weak transcription	Fetal Intestine Small	intestine
33	chr1:185170800-185191600	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:185170800-185192600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:185170800-185199800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:185170800-185218200	Weak transcription	Pancreas	Pancrea
37	chr1:185171400-185192000	Weak transcription	Fetal Brain Female	brain
38	chr1:185171400-185193200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:185173000-185191200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:185174000-185207200	Weak transcription	NHDF-Ad	bronchial
41	chr1:185175400-185191400	Weak transcription	Fetal Lung	lung
42	chr1:185175600-185192000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:185175600-185217000	Weak transcription	Fetal Stomach	stomach
44	chr1:185177600-185192800	Weak transcription	Primary B cells from cord blood	blood
45	chr1:185177800-185202600	Weak transcription	Fetal Kidney	kidney
46	chr1:185178200-185184800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:185178400-185186200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:185178400-185208600	Weak transcription	Small Intestine	intestine
49	chr1:185178600-185190200	Weak transcription	Adipose Nuclei	Adipose
50	chr1:185178600-185191400	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links