Variant report

Variant	rs12580043
Chromosome Location	chr12:122767557-122767558
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	chr12:122766620..122768349-chr12:122769086..122771741,2	K562	blood:
2	chr12:122765667..122769072-chr12:122769086..122771792,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11057290	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061368	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11834748	1.00[CHB][hapmap]
rs11836373	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11837919	1.00[CHB][hapmap]
rs12321299	1.00[CHB][hapmap]
rs1882581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2089887	1.00[ASW][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35422129	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58134429	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60995900	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954363	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954365	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954366	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954367	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954368	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954369	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954370	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954371	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954374	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954376	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954377	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954378	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954381	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954382	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954383	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954393	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954394	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954395	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954397	0.93[EUR][1000 genomes]
rs61955588	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61955589	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7132789	0.91[EUR][1000 genomes]
rs7303975	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311354	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7315448	1.00[CHB][hapmap]
rs7953290	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964780	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7968764	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7979955	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907485	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122752000-122780000	Weak transcription	Fetal Kidney	kidney
3	chr12:122752000-122800600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:122752000-122802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:122755800-122768200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:122757600-122780200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:122759000-122782200	Weak transcription	Right Ventricle	heart
10	chr12:122760200-122790400	Strong transcription	Placenta	Placenta
11	chr12:122760400-122774800	Strong transcription	Liver	Liver
12	chr12:122763600-122770200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:122763600-122770200	Weak transcription	Fetal Thymus	thymus
14	chr12:122763600-122770200	Weak transcription	Ovary	ovary
15	chr12:122763600-122770400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:122763600-122770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:122763600-122770400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:122763600-122770600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:122763600-122771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:122763600-122771600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:122763600-122771800	Weak transcription	Aorta	Aorta
22	chr12:122763600-122772000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:122763600-122775800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:122763600-122776000	Weak transcription	HUVEC	blood vessel
25	chr12:122763600-122779600	Weak transcription	Fetal Lung	lung
26	chr12:122763600-122781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:122763600-122781800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:122763600-122781800	Weak transcription	Fetal Brain Male	brain
29	chr12:122763600-122781800	Weak transcription	Gastric	stomach
30	chr12:122763600-122781800	Weak transcription	Spleen	Spleen
31	chr12:122763600-122782000	Weak transcription	Colonic Mucosa	Colon
32	chr12:122763600-122782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:122763600-122782800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:122763600-122785200	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:122763600-122785400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:122763600-122785400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:122763600-122787400	Weak transcription	Brain Angular Gyrus	brain
38	chr12:122763600-122792600	Weak transcription	Thymus	Thymus
39	chr12:122763600-122792800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:122763600-122812000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:122763800-122771400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:122763800-122771600	Weak transcription	GM12878-XiMat	blood
43	chr12:122763800-122772000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:122763800-122772000	Weak transcription	Brain Substantia Nigra	brain
45	chr12:122763800-122779800	Weak transcription	Psoas Muscle	Psoas
46	chr12:122763800-122781600	Weak transcription	Small Intestine	intestine
47	chr12:122764000-122770200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr12:122764000-122779800	Weak transcription	Primary B cells from cord blood	blood
49	chr12:122764000-122781800	Weak transcription	HepG2	liver
50	chr12:122764400-122780000	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links