Variant report

Variant	rs13383261
Chromosome Location	chr2:189913748-189913749
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	chr2:189906528..189908603-chr2:189912198..189915100,2	K562	blood:
2	chr2:189912462..189915135-chr8:111597995..111599883,2	MCF-7	breast:

Extended variants
information (count: 130 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10194770	0.93[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10200824	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10207530	0.85[CEU][hapmap]
rs10931391	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931392	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931393	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10931394	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10931395	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10931397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13392501	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13393368	0.93[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13421823	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35571278	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55633056	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55685144	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55711740	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55765720	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55778292	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55784828	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55850163	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55905390	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55929725	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55947958	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55963648	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55977069	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56044677	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56074008	0.93[ASN][1000 genomes]
rs56080628	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56176197	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56310996	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56380683	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56381977	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56408385	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56667101	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56843866	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57206096	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57547130	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57796506	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57834784	0.85[ASN][1000 genomes]
rs58106884	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58175660	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58243388	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58289599	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58532741	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59149631	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59384732	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59488585	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59777852	0.89[ASN][1000 genomes]
rs59880272	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60355473	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60396510	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60414265	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60762885	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60860012	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61199451	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61410138	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62182413	0.80[ASN][1000 genomes]
rs72902361	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72902380	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902385	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902398	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904403	0.94[ASN][1000 genomes]
rs72904412	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904419	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72904429	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72904433	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72904472	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72904475	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72904486	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72904488	0.93[ASN][1000 genomes]
rs72904489	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72904490	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72904492	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72906305	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906307	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906313	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906316	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906317	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906321	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906322	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906325	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906330	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906333	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906336	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906337	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906338	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906341	0.89[ASN][1000 genomes]
rs72906349	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906352	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906354	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906358	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906361	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72906362	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906363	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906375	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72906378	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72906379	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72906383	0.85[ASN][1000 genomes]
rs72906384	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72906395	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72906398	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72908316	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72908318	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72908321	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72908324	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72908325	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72908338	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72908342	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72908343	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7419288	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7419543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7420035	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7420319	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7420331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7421172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7421643	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7424001	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7424585	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7424845	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7424928	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7425276	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7425292	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7425294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7425297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7425309	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7425327	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7425816	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7586	0.82[ASW][hapmap]

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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13383261	SDPR	cis	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189888000-189917400	Weak transcription	Ovary	ovary
2	chr2:189889800-189931000	Weak transcription	Esophagus	oesophagus
3	chr2:189893200-189932600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:189893600-189916200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:189894000-189913800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:189894600-189932800	Weak transcription	Right Ventricle	heart
7	chr2:189895200-189940800	Strong transcription	HSMM	muscle
8	chr2:189895600-189965200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:189896200-189962400	Weak transcription	Left Ventricle	heart
10	chr2:189896400-189922600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:189896800-189932800	Weak transcription	Pancreas	Pancrea
12	chr2:189897000-189949000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:189897200-189934400	Weak transcription	Gastric	stomach
14	chr2:189897400-189917400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:189897400-189932400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:189897600-189934000	Weak transcription	Lung	lung
17	chr2:189898400-189938200	Weak transcription	HMEC	breast
18	chr2:189899000-189916000	Weak transcription	Aorta	Aorta
19	chr2:189899000-189919000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:189899000-189925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:189899000-189939200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:189900800-189964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:189901000-189914200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:189901000-189919000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:189901200-189947400	Weak transcription	Fetal Brain Male	brain
26	chr2:189902400-189921600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:189902600-189914600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:189902600-189937000	Strong transcription	NH-A	brain
29	chr2:189902800-189914400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr2:189902800-189914800	Strong transcription	Osteobl	bone
31	chr2:189904000-189938200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:189904400-189915800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:189904400-189916000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:189904400-189921200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:189904400-189926800	Weak transcription	Fetal Intestine Small	intestine
36	chr2:189904400-189934400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:189904400-189951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:189904600-189932400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:189906000-189918000	Weak transcription	Brain Angular Gyrus	brain
40	chr2:189906400-189914000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:189906400-189914400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:189906400-189925400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:189906600-189914800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:189907600-189914000	Weak transcription	Fetal Intestine Large	intestine
45	chr2:189907800-189915800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:189907800-189929200	Weak transcription	Liver	Liver
47	chr2:189908000-189916000	Weak transcription	Placenta	Placenta
48	chr2:189908000-189927800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:189909000-189921200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:189909200-189936200	Weak transcription	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links