Variant report

Variant	rs581515
Chromosome Location	chr12:121233250-121233251
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1055059	1.00[ASN][1000 genomes]
rs10849777	1.00[ASN][1000 genomes]
rs10849797	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065179	1.00[ASN][1000 genomes]
rs11065201	1.00[ASN][1000 genomes]
rs11065207	1.00[ASN][1000 genomes]
rs11065210	1.00[ASN][1000 genomes]
rs11065213	1.00[ASN][1000 genomes]
rs11065226	1.00[ASN][1000 genomes]
rs11065227	1.00[ASN][1000 genomes]
rs11065228	1.00[ASN][1000 genomes]
rs11065253	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065258	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065263	0.84[EUR][1000 genomes]
rs11065267	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.86[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065281	0.84[EUR][1000 genomes]
rs11065285	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065286	0.85[YRI][hapmap]
rs11065288	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	1.00[ASN][1000 genomes]
rs11065309	1.00[ASN][1000 genomes]
rs11065315	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11065318	1.00[ASN][1000 genomes]
rs11065326	1.00[ASN][1000 genomes]
rs11065328	1.00[ASN][1000 genomes]
rs11065334	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11065347	1.00[ASN][1000 genomes]
rs11065353	1.00[ASN][1000 genomes]
rs1151854	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs1151855	1.00[ASN][1000 genomes]
rs1151860	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs1151865	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1186042	1.00[ASN][1000 genomes]
rs12366451	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368617	1.00[ASN][1000 genomes]
rs12370534	1.00[ASN][1000 genomes]
rs1696358	1.00[ASN][1000 genomes]
rs1696362	0.89[CEU][hapmap]
rs1718207	1.00[ASN][1000 genomes]
rs1732397	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1732399	1.00[ASN][1000 genomes]
rs2454728	1.00[ASN][1000 genomes]
rs2701179	1.00[ASN][1000 genomes]
rs497457	0.83[ASW][hapmap];1.00[CEU][hapmap];0.86[LWK][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498255	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513940	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs515784	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519785	1.00[CEU][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530162	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554197	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572009	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574993	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs582678	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590556	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591489	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59818945	1.00[ASN][1000 genomes]
rs61108232	1.00[ASN][1000 genomes]
rs61414515	1.00[ASN][1000 genomes]
rs61624288	1.00[ASN][1000 genomes]
rs626103	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs627211	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639343	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645661	0.91[ASW][hapmap];1.00[CEU][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs645786	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647336	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs648262	0.91[ASW][hapmap];1.00[CEU][hapmap];0.83[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];1.00[ASN][1000 genomes]
rs651156	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660878	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671815	0.83[ASW][hapmap];1.00[CEU][hapmap];0.86[LWK][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708784	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708788	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409953	1.00[ASN][1000 genomes]
rs73411916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	1.00[ASN][1000 genomes]
rs73413874	1.00[ASN][1000 genomes]
rs7960932	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1801139	chr12:121228410-121241933	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1045178	chr12:121231461-121271734	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
2	chr12:121209400-121236800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:121211400-121260800	Weak transcription	Gastric	stomach
4	chr12:121212600-121236600	Weak transcription	Fetal Heart	heart
5	chr12:121221000-121250000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:121221200-121233600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:121221200-121249400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:121221400-121235800	Weak transcription	Hela-S3	cervix
9	chr12:121221400-121240800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:121221600-121238800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:121222000-121233800	Weak transcription	Fetal Stomach	stomach
12	chr12:121222200-121237200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:121222200-121274000	Weak transcription	Lung	lung
14	chr12:121222400-121238800	Weak transcription	Placenta	Placenta
15	chr12:121222400-121240400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:121222600-121237200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:121222600-121249200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:121222600-121259000	Weak transcription	Ovary	ovary
19	chr12:121222600-121260800	Weak transcription	Spleen	Spleen
20	chr12:121222600-121268600	Weak transcription	Esophagus	oesophagus
21	chr12:121222600-121268600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:121222800-121237200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:121222800-121237400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:121222800-121240600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:121222800-121245600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:121222800-121249400	Weak transcription	HSMM	muscle
27	chr12:121226200-121237200	Weak transcription	Psoas Muscle	Psoas
28	chr12:121228600-121233800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:121228600-121233800	Weak transcription	Fetal Thymus	thymus
30	chr12:121228600-121235600	Weak transcription	Thymus	Thymus
31	chr12:121228600-121239400	Weak transcription	Liver	Liver
32	chr12:121228800-121233800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:121229000-121245200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:121230000-121239000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:121230000-121255200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:121230600-121236000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:121231200-121234800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:121231200-121238000	Weak transcription	Left Ventricle	heart
39	chr12:121231400-121233400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr12:121231600-121233800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:121231600-121237400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:121232400-121234800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:121232600-121234000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:121232600-121234600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr12:121232600-121234600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:121232600-121234600	ZNF genes & repeats	Fetal Lung	lung
47	chr12:121232600-121234800	ZNF genes & repeats	GM12878-XiMat	blood
48	chr12:121232800-121234000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:121232800-121234200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr12:121232800-121234600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links