Variant report

Variant	rs12582025
Chromosome Location	chr12:45710584-45710585
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	chr12:45701919..45704723-chr12:45708246..45711469,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1025088	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10736024	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10748416	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10785564	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182980	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578220	1.00[AMR][1000 genomes]
rs12578314	1.00[AMR][1000 genomes]
rs12578982	1.00[AMR][1000 genomes]
rs12579080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580208	1.00[AMR][1000 genomes]
rs12581525	1.00[AMR][1000 genomes]
rs12581841	1.00[AMR][1000 genomes]
rs17095474	1.00[AMR][1000 genomes]
rs17095688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17095716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095784	1.00[AMR][1000 genomes]
rs17095888	1.00[AMR][1000 genomes]
rs17095911	1.00[AMR][1000 genomes]
rs1896027	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037856	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2037857	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34066087	1.00[AMR][1000 genomes]
rs3759079	1.00[AMR][1000 genomes]
rs3920257	1.00[AMR][1000 genomes]
rs41331147	1.00[AMR][1000 genomes]
rs4489808	0.94[ASN][1000 genomes]
rs4768087	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768600	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768605	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768606	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135029	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304749	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv690	chr12:45674127-45718859	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv826357	chr12:45691091-45740769	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
4	esv3393622	chr12:45709985-45712033	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
4	chr12:45684400-45721800	Weak transcription	Esophagus	oesophagus
5	chr12:45692400-45721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:45693200-45725400	Weak transcription	Fetal Kidney	kidney
8	chr12:45693600-45730600	Weak transcription	NH-A	brain
9	chr12:45693800-45721800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:45695200-45741800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:45696400-45736600	Weak transcription	HepG2	liver
12	chr12:45696800-45721800	Weak transcription	HMEC	breast
13	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
14	chr12:45698800-45726000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:45698800-45726000	Weak transcription	Placenta	Placenta
16	chr12:45699000-45741800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:45699400-45725400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:45699800-45715800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:45700000-45743600	Weak transcription	Gastric	stomach
21	chr12:45701400-45743400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:45704200-45715400	Weak transcription	A549	lung
23	chr12:45704200-45721600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:45704400-45720000	Weak transcription	HSMMtube	muscle
25	chr12:45704400-45721800	Weak transcription	Liver	Liver
26	chr12:45704800-45715600	Weak transcription	Psoas Muscle	Psoas
27	chr12:45704800-45715800	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:45704800-45716200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:45704800-45725000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:45704800-45725400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:45705200-45720400	Weak transcription	Ovary	ovary
32	chr12:45706600-45732400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:45707200-45710800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:45707200-45725600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:45707200-45740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr12:45707800-45716600	Weak transcription	Fetal Heart	heart
37	chr12:45708000-45719800	Weak transcription	HSMM	muscle
38	chr12:45708600-45710600	ZNF genes & repeats	GM12878-XiMat	blood
39	chr12:45708600-45742000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:45708800-45718200	Weak transcription	NHDF-Ad	bronchial
41	chr12:45709200-45711400	Weak transcription	Lung	lung
42	chr12:45709200-45718000	Weak transcription	Thymus	Thymus
43	chr12:45709200-45721800	Weak transcription	NHLF	lung
44	chr12:45709200-45743600	Weak transcription	Spleen	Spleen
45	chr12:45709400-45725600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:45709600-45710600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:45709600-45721200	Weak transcription	HUVEC	blood vessel
48	chr12:45709600-45721800	Weak transcription	Right Ventricle	heart
49	chr12:45709800-45711600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:45709800-45715800	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links