Variant report

Variant	rs12122868
Chromosome Location	chr1:193158483-193158484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193156361..193159258-chr1:193169836..193172237,2	K562	blood:
2	chr1:193156268..193159950-chr1:193162638..193166172,6	K562	blood:
3	chr1:193157136..193159095-chr1:193163776..193165606,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10494675	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10801170	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10801186	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10921331	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12119992	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12123069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12123511	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12123750	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12123793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12123970	1.00[CEU][hapmap]
rs12124921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12124924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12128125	0.83[EUR][1000 genomes]
rs12129126	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12132305	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12134846	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12135148	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12135670	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12137391	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12141029	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12141336	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12141559	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12143361	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12143573	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12145101	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12145609	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12145761	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1325196	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17526825	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17528639	0.86[EUR][1000 genomes]
rs17592121	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17592633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17593120	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17593414	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2887640	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs28930673	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28930674	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs528790	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6663374	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6667917	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6682904	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6685991	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72731058	0.80[EUR][1000 genomes]
rs72731066	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72731068	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72740227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740243	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740246	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740259	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740261	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740270	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72740276	0.86[EUR][1000 genomes]
rs7525157	0.86[EUR][1000 genomes]
rs817137	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv275335	chr1:193155443-193159711	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193131800-193158600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:193140400-193159800	Weak transcription	Dnd41	blood
3	chr1:193140800-193161400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:193144200-193160400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:193148400-193161200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:193155400-193161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:193155600-193160000	Weak transcription	Gastric	stomach
8	chr1:193155600-193160200	Weak transcription	K562	blood
9	chr1:193155600-193178400	Weak transcription	HUVEC	blood vessel
10	chr1:193155800-193159400	Weak transcription	GM12878-XiMat	blood
11	chr1:193155800-193159800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:193155800-193160000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:193155800-193160200	Enhancers	Fetal Intestine Small	intestine
14	chr1:193155800-193160400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:193155800-193160600	Weak transcription	Fetal Thymus	thymus
16	chr1:193155800-193161200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:193155800-193161200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:193155800-193161400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:193155800-193161400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:193155800-193161400	Weak transcription	Thymus	Thymus
21	chr1:193155800-193161600	Weak transcription	Primary B cells from cord blood	blood
22	chr1:193155800-193161600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:193155800-193175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:193155800-193183000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
26	chr1:193156000-193158800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:193156000-193159000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr1:193156000-193159800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:193156000-193160200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:193156000-193160200	Enhancers	Fetal Intestine Large	intestine
31	chr1:193156000-193161800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:193156000-193161800	Weak transcription	Psoas Muscle	Psoas
33	chr1:193156000-193167400	Weak transcription	Ovary	ovary
34	chr1:193156000-193175400	Weak transcription	HMEC	breast
35	chr1:193156200-193158800	Weak transcription	NHDF-Ad	bronchial
36	chr1:193156200-193159800	Weak transcription	Adipose Nuclei	Adipose
37	chr1:193156200-193160000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr1:193156200-193160400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:193156200-193161400	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:193156200-193174600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:193156200-193175400	Weak transcription	NHEK	skin
42	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
43	chr1:193156400-193159000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:193156400-193161800	Weak transcription	Right Ventricle	heart
45	chr1:193156600-193160200	Enhancers	Fetal Lung	lung
46	chr1:193156600-193161200	Weak transcription	Primary T cells from cord blood	blood
47	chr1:193156600-193161200	Weak transcription	Fetal Stomach	stomach
48	chr1:193156600-193161800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:193156600-193173000	Weak transcription	Osteobl	bone
50	chr1:193156600-193180200	Weak transcription	NH-A	brain

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