Variant report

Variant	rs60499077
Chromosome Location	chr12:11829441-11829442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11054420	1.00[EUR][1000 genomes]
rs12296206	1.00[EUR][1000 genomes]
rs1641623	1.00[EUR][1000 genomes]
rs55959071	1.00[EUR][1000 genomes]
rs58160049	1.00[EUR][1000 genomes]
rs59624591	1.00[EUR][1000 genomes]
rs59692713	1.00[EUR][1000 genomes]
rs61366849	1.00[EUR][1000 genomes]
rs7294334	1.00[EUR][1000 genomes]
rs7305726	1.00[EUR][1000 genomes]
rs7306490	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308344	1.00[EUR][1000 genomes]
rs73288732	1.00[EUR][1000 genomes]
rs73288733	1.00[EUR][1000 genomes]
rs73288736	1.00[EUR][1000 genomes]
rs73288738	1.00[EUR][1000 genomes]
rs73288740	1.00[EUR][1000 genomes]
rs73288746	1.00[EUR][1000 genomes]
rs73288748	1.00[EUR][1000 genomes]
rs73288753	1.00[EUR][1000 genomes]
rs73288756	1.00[EUR][1000 genomes]
rs73288757	1.00[EUR][1000 genomes]
rs73288764	1.00[EUR][1000 genomes]
rs74060969	1.00[EUR][1000 genomes]
rs74061000	1.00[EUR][1000 genomes]
rs74062355	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74062357	1.00[EUR][1000 genomes]
rs74062364	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975230	1.00[EUR][1000 genomes]
rs7975331	1.00[EUR][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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11812200-11832600	Weak transcription	A549	lung
2	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:11812400-11830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:11815000-11836800	Weak transcription	NHEK	skin
5	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:11815200-11833800	Weak transcription	Colonic Mucosa	Colon
7	chr12:11815200-11837800	Weak transcription	NH-A	brain
8	chr12:11816000-11830800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:11817400-11829800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:11820200-11841000	Weak transcription	Fetal Intestine Small	intestine
11	chr12:11821600-11830200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:11822000-11829600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:11822000-11850000	Weak transcription	HMEC	breast
14	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:11823600-11829800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:11824600-11829800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr12:11824800-11831200	Enhancers	Brain Hippocampus Middle	brain
18	chr12:11825000-11830200	Enhancers	Spleen	Spleen
19	chr12:11825200-11830000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:11825400-11829600	Enhancers	Right Atrium	heart
21	chr12:11825400-11829600	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr12:11825400-11830000	Enhancers	Left Ventricle	heart
23	chr12:11825600-11829800	Enhancers	Adipose Nuclei	Adipose
24	chr12:11825600-11829800	Enhancers	Right Ventricle	heart
25	chr12:11825800-11830200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:11826000-11830200	Weak transcription	Fetal Brain Female	brain
27	chr12:11826000-11837600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:11826000-11837800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:11826000-11838800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:11826000-11851200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:11826200-11829600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr12:11826200-11831000	Enhancers	Stomach Smooth Muscle	stomach
33	chr12:11826200-11838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:11826200-11839200	Weak transcription	HepG2	liver
35	chr12:11826600-11829600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:11826600-11829600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr12:11826600-11829600	Enhancers	Duodenum Mucosa	Duodenum
38	chr12:11827000-11829600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:11827000-11829600	Enhancers	Gastric	stomach
40	chr12:11827000-11829600	Enhancers	Lung	lung
41	chr12:11827200-11829600	Enhancers	Small Intestine	intestine
42	chr12:11827200-11830800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:11827200-11833200	Enhancers	Colon Smooth Muscle	Colon
44	chr12:11827400-11830400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:11827400-11830800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:11827400-11831000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:11827400-11831400	Weak transcription	Stomach Mucosa	stomach
48	chr12:11827400-11834200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:11827600-11829600	Enhancers	Pancreas	Pancrea

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