Variant report

Variant	rs12311439
Chromosome Location	chr12:2394781-2394782
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:2393395..2396295-chr20:45988367..45990293,2	MCF-7	breast:
2	chr12:2393635..2395720-chr12:2398265..2400410,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1006737	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1024582	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10744560	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774035	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10774036	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11062170	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12315711	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2159100	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4298967	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4765905	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs758170	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs769087	0.90[EUR][1000 genomes]
rs7965923	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2378000-2397600	Weak transcription	Lung	lung
2	chr12:2390600-2402800	Enhancers	Colon Smooth Muscle	Colon
3	chr12:2390600-2406800	Enhancers	Fetal Heart	heart
4	chr12:2391200-2402600	Enhancers	Rectal Smooth Muscle	rectum
5	chr12:2391400-2396200	Enhancers	Fetal Thymus	thymus
6	chr12:2391400-2397800	Enhancers	Fetal Lung	lung
7	chr12:2391400-2398000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:2391400-2398000	Enhancers	NHLF	lung
9	chr12:2391400-2400000	Enhancers	Left Ventricle	heart
10	chr12:2391400-2400000	Enhancers	Right Ventricle	heart
11	chr12:2391600-2394800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:2391800-2397600	Enhancers	Fetal Muscle Leg	muscle
13	chr12:2391800-2404000	Weak transcription	Brain Angular Gyrus	brain
14	chr12:2392000-2396600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:2392400-2394800	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:2392400-2397600	Enhancers	Adipose Nuclei	Adipose
17	chr12:2392400-2398200	Enhancers	Aorta	Aorta
18	chr12:2392400-2398400	Enhancers	Fetal Stomach	stomach
19	chr12:2392600-2394800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:2392600-2394800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr12:2392600-2395000	Enhancers	Brain Hippocampus Middle	brain
22	chr12:2392800-2397800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:2392800-2398600	Enhancers	Placenta	Placenta
24	chr12:2392800-2398800	Enhancers	Right Atrium	heart
25	chr12:2393000-2394800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:2393000-2400000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:2393200-2398400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:2393600-2395000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr12:2393800-2394800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:2393800-2394800	Weak transcription	Fetal Kidney	kidney
31	chr12:2393800-2395000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr12:2393800-2395000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:2393800-2395200	Enhancers	Brain Anterior Caudate	brain
34	chr12:2393800-2395800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:2393800-2405600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:2393800-2409000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr12:2394000-2394800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:2394000-2395600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:2394000-2395600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:2394000-2395800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:2394000-2397600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:2394000-2400400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:2394000-2412200	Weak transcription	Colonic Mucosa	Colon
44	chr12:2394200-2395000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr12:2394200-2395000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:2394200-2396400	Weak transcription	HSMM	muscle
47	chr12:2394200-2397800	Enhancers	Osteobl	bone
48	chr12:2394200-2399200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:2394400-2395000	Enhancers	Spleen	Spleen
50	chr12:2394400-2395200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon

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