Variant report

Variant	rs12578314
Chromosome Location	chr12:45641203-45641204
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45639399..45641571-chr12:45642912..45645848,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1025088	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs10492285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10736024	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs10785561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785564	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs11182809	1.00[CEU][hapmap]
rs11182980	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs12578188	1.00[CEU][hapmap]
rs12578220	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes]
rs12578982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12579006	1.00[AMR][1000 genomes]
rs12579080	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[AMR][1000 genomes]
rs12580208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12580320	1.00[CEU][hapmap]
rs12580562	1.00[AMR][1000 genomes]
rs12581525	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12581545	1.00[AMR][1000 genomes]
rs12581554	1.00[CEU][hapmap]
rs12581841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12581880	1.00[AMR][1000 genomes]
rs12582025	1.00[AMR][1000 genomes]
rs12582369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095441	1.00[CEU][hapmap]
rs17095474	1.00[AMR][1000 genomes]
rs17095584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095688	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[AMR][1000 genomes]
rs17095706	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[AMR][1000 genomes]
rs17095713	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17095716	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[AMR][1000 genomes]
rs17095721	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[AMR][1000 genomes]
rs17095722	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[AMR][1000 genomes]
rs17095723	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[AMR][1000 genomes]
rs17095736	1.00[CEU][hapmap]
rs17095784	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17095866	1.00[CEU][hapmap]
rs17095888	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17095911	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs1896027	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs2037856	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs2037857	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs34066087	1.00[AMR][1000 genomes]
rs3759079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3920257	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs41331147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768087	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs4768600	1.00[CEU][hapmap]
rs4768606	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs60216384	1.00[AMR][1000 genomes]
rs6582542	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs7135029	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7136281	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs7304389	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs7304749	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs7315817	1.00[CEU][hapmap]
rs73275012	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73293382	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486228	1.00[AMR][1000 genomes]
rs7968450	1.00[CEU][hapmap]

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	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45614400-45650200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:45627400-45650600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:45629800-45641400	Weak transcription	Left Ventricle	heart
4	chr12:45629800-45642600	Weak transcription	Brain Substantia Nigra	brain
5	chr12:45629800-45642600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:45629800-45651000	Weak transcription	K562	blood
7	chr12:45629800-45651400	Weak transcription	Fetal Intestine Large	intestine
8	chr12:45629800-45652400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:45630000-45647800	Weak transcription	Right Ventricle	heart
10	chr12:45630000-45648600	Weak transcription	NHEK	skin
11	chr12:45630000-45651000	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:45630000-45651000	Weak transcription	HepG2	liver
13	chr12:45630000-45653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:45636000-45651000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:45636200-45641400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:45636200-45647400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:45636200-45651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:45636200-45652400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:45636200-45653400	Weak transcription	Thymus	Thymus
20	chr12:45636200-45662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:45636400-45643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:45636400-45647800	Weak transcription	Fetal Stomach	stomach
23	chr12:45636400-45648000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:45636400-45650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:45636400-45650400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:45636400-45651000	Weak transcription	Pancreas	Pancrea
27	chr12:45636400-45652200	Weak transcription	Fetal Intestine Small	intestine
28	chr12:45636400-45653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:45638800-45643400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:45638800-45650200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:45638800-45650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:45638800-45650800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:45638800-45650800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:45638800-45651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:45638800-45652200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:45638800-45652200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:45639000-45642600	Weak transcription	Psoas Muscle	Psoas
38	chr12:45639000-45642600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:45639000-45642600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:45639000-45643600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:45639000-45645000	Weak transcription	Fetal Thymus	thymus
42	chr12:45639000-45648000	Weak transcription	Small Intestine	intestine
43	chr12:45639000-45649600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:45639000-45650800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:45639000-45651000	Weak transcription	Spleen	Spleen
46	chr12:45639000-45653200	Weak transcription	Placenta	Placenta
47	chr12:45639000-45653600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:45639200-45641400	Weak transcription	Right Atrium	heart
49	chr12:45639400-45650200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr12:45639400-45650600	Weak transcription	Primary monocytes fromperipheralblood	blood

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