Variant report

Variant	rs17818498
Chromosome Location	chr12:11873288-11873289
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	chr12:11871186..11873345-chr12:11883062..11884780,2	MCF-7	breast:
2	chr12:11866674..11868220-chr12:11873125..11875611,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1009951	0.82[EUR][1000 genomes]
rs1009953	0.82[EUR][1000 genomes]
rs1009954	0.88[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs10743967	0.93[EUR][1000 genomes]
rs10845407	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10845408	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11054421	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11054423	0.96[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11054424	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11054425	0.81[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.93[MEX][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11054429	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11054433	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs11054439	0.92[CEU][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11615175	0.88[CEU][hapmap];0.82[CHB][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12228191	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12369491	0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs12828066	0.91[CHB][hapmap]
rs17818461	0.83[EUR][1000 genomes]
rs17818624	0.96[CEU][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2051525	0.92[CEU][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes]
rs2187641	0.82[CEU][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs2187642	0.92[CEU][hapmap];0.83[TSI][hapmap];0.92[EUR][1000 genomes]
rs2416882	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2416883	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2724588	0.96[CEU][hapmap];0.85[GIH][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2724599	0.80[EUR][1000 genomes]
rs2724616	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2724618	0.92[EUR][1000 genomes]
rs2724633	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2724645	0.82[EUR][1000 genomes]
rs2724648	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2856321	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs2856322	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs2856324	0.84[EUR][1000 genomes]
rs2856338	0.81[CEU][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs2856344	0.82[EUR][1000 genomes]
rs2860431	0.82[CEU][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs2900208	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2954980	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4763719	0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs4763720	0.90[EUR][1000 genomes]
rs4763721	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7488701	0.90[EUR][1000 genomes]
rs762717	0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs972798	0.92[ASW][hapmap];0.81[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.94[LWK][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:11848800-11879600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:11857000-11876800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:11861800-11876200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:11865200-11879400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:11865800-11879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:11868400-11873600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:11868800-11873400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:11869400-11873400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:11869400-11873400	Genic enhancers	Fetal Thymus	thymus
11	chr12:11869400-11873400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr12:11869400-11873600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:11869400-11877400	Enhancers	HUVEC	blood vessel
14	chr12:11869600-11873400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:11869800-11873400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:11869800-11873400	Enhancers	Fetal Heart	heart
17	chr12:11870200-11873400	Enhancers	Rectal Smooth Muscle	rectum
18	chr12:11870200-11885000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:11870400-11873400	Enhancers	NHLF	lung
20	chr12:11870400-11879600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:11870600-11873400	Enhancers	NHEK	skin
22	chr12:11870600-11873600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:11870600-11875800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:11870600-11876400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:11870800-11873600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:11870800-11877000	Weak transcription	Colonic Mucosa	Colon
27	chr12:11870800-11879800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:11870800-11879800	Weak transcription	Fetal Kidney	kidney
29	chr12:11871000-11873400	Enhancers	Small Intestine	intestine
30	chr12:11871400-11873600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:11871600-11873400	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:11871800-11873400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr12:11871800-11873800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:11872000-11873400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:11872000-11873400	Enhancers	HSMM	muscle
36	chr12:11872000-11873400	Enhancers	HSMMtube	muscle
37	chr12:11872000-11875400	Weak transcription	HepG2	liver
38	chr12:11872200-11874600	Weak transcription	Primary B cells from cord blood	blood
39	chr12:11872200-11880200	Weak transcription	Fetal Brain Male	brain
40	chr12:11872400-11873600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:11872400-11877000	Weak transcription	Dnd41	blood
42	chr12:11872600-11873400	Flanking Active TSS	NH-A	brain
43	chr12:11872600-11873600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:11872800-11873400	Enhancers	Fetal Intestine Small	intestine
45	chr12:11872800-11874400	Weak transcription	Thymus	Thymus
46	chr12:11872800-11875000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:11872800-11875200	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:11872800-11875600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:11872800-11875600	Weak transcription	Fetal Intestine Large	intestine
50	chr12:11872800-11876600	Weak transcription	Brain Hippocampus Middle	brain

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