Variant report

Variant	rs12425612
Chromosome Location	chr12:39746036-39746037
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	chr12:39743968..39746775-chr12:39830107..39832162,2	K562	blood:
2	chr12:39738067..39741527-chr12:39743955..39747329,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1015483	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424130	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424375	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127096	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127112	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127131	1.00[ASN][1000 genomes]
rs35844572	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58466406	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832375	chr12:39599362-39784722	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv558589	chr12:39667861-39768356	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv558590	chr12:39724344-39751273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39696600-39762200	Weak transcription	Fetal Brain Male	brain
2	chr12:39697800-39771800	Weak transcription	Fetal Kidney	kidney
3	chr12:39699600-39760600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:39704200-39746200	Weak transcription	HUVEC	blood vessel
5	chr12:39718400-39756800	Weak transcription	HSMM	muscle
6	chr12:39721000-39770600	Weak transcription	Gastric	stomach
7	chr12:39721600-39752400	Weak transcription	Right Ventricle	heart
8	chr12:39722800-39767200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:39724400-39751800	Weak transcription	Fetal Heart	heart
10	chr12:39725000-39750000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:39725200-39753600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:39725800-39749800	Weak transcription	K562	blood
13	chr12:39726000-39753800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:39726400-39749800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:39726400-39766600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:39726600-39766600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:39726600-39766600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:39726600-39766800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:39726800-39749800	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:39726800-39762200	Weak transcription	Placenta	Placenta
21	chr12:39726800-39766600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:39727000-39749000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:39727000-39749400	Weak transcription	Adipose Nuclei	Adipose
24	chr12:39727000-39749800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:39727000-39750000	Weak transcription	Brain Anterior Caudate	brain
26	chr12:39727000-39750000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:39727000-39751000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:39727000-39751800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:39727000-39753800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:39727000-39755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:39727000-39755600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:39727000-39758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:39727000-39758000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:39727000-39758200	Weak transcription	Fetal Intestine Large	intestine
35	chr12:39727000-39760600	Weak transcription	Brain Angular Gyrus	brain
36	chr12:39727000-39761400	Weak transcription	Fetal Intestine Small	intestine
37	chr12:39727000-39762400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:39727000-39767000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:39727000-39779200	Weak transcription	Aorta	Aorta
40	chr12:39727200-39749800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:39728800-39750200	Weak transcription	Hela-S3	cervix
42	chr12:39733000-39750000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:39733600-39749200	Weak transcription	Fetal Brain Female	brain
44	chr12:39734600-39749000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:39735200-39761400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr12:39735600-39749000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr12:39735600-39750400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:39735600-39755800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:39735600-39766600	Weak transcription	HMEC	breast
50	chr12:39735600-39766600	Weak transcription	NHEK	skin

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