Variant report

Variant	rs12321640
Chromosome Location	chr12:118657099-118657100
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11068849	1.00[EUR][1000 genomes]
rs11068869	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11068875	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068894	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11835933	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311104	1.00[EUR][1000 genomes]
rs12314138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318403	1.00[EUR][1000 genomes]
rs12319261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35214062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6490174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7132122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7137739	0.83[AMR][1000 genomes]
rs7306323	1.00[EUR][1000 genomes]
rs7308927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7313336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7956203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118621000-118682600	Weak transcription	A549	lung
2	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
3	chr12:118628800-118672600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:118628800-118673000	Weak transcription	NH-A	brain
5	chr12:118636800-118658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:118637400-118658200	Weak transcription	Brain Anterior Caudate	brain
10	chr12:118637400-118671400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:118637400-118672400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:118637400-118684200	Weak transcription	Pancreas	Pancrea
13	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
14	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
15	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
16	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
17	chr12:118637600-118673000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:118638800-118687800	Weak transcription	Gastric	stomach
19	chr12:118639000-118672200	Weak transcription	Placenta	Placenta
20	chr12:118639000-118672200	Weak transcription	Left Ventricle	heart
21	chr12:118639000-118672800	Weak transcription	Small Intestine	intestine
22	chr12:118639200-118658000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:118639200-118658200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:118639400-118660800	Weak transcription	HSMMtube	muscle
25	chr12:118639400-118661800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:118639400-118674800	Weak transcription	HMEC	breast
27	chr12:118639800-118672600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:118643000-118672200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:118643600-118660000	Weak transcription	Fetal Stomach	stomach
30	chr12:118644200-118665600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:118644800-118666400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:118647800-118666400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:118648000-118666400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:118648200-118657600	Weak transcription	Fetal Intestine Small	intestine
35	chr12:118648400-118658000	Weak transcription	Brain Substantia Nigra	brain
36	chr12:118648400-118658200	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:118648400-118658200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:118648400-118664400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:118649800-118666600	Weak transcription	Thymus	Thymus
40	chr12:118650200-118658200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:118650400-118690400	Weak transcription	Stomach Mucosa	stomach
42	chr12:118650600-118671400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:118650600-118672400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:118650600-118679400	Weak transcription	HUVEC	blood vessel
45	chr12:118650800-118672200	Weak transcription	HSMM	muscle
46	chr12:118651600-118659800	Weak transcription	K562	blood
47	chr12:118651800-118672200	Weak transcription	Lung	lung
48	chr12:118651800-118672400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:118652000-118658600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:118652000-118658600	Weak transcription	Primary T cells from cord blood	blood

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