Variant report

Variant	rs424034
Chromosome Location	chr12:118672434-118672435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118670359..118672856-chr12:118680813..118682507,2	K562	blood:

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1151900	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs168497	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1699160	0.81[EUR][1000 genomes]
rs1726390	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs191626	0.88[EUR][1000 genomes]
rs2650175	0.85[EUR][1000 genomes]
rs353884	0.94[EUR][1000 genomes]
rs353888	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs353891	0.86[EUR][1000 genomes]
rs353893	0.88[EUR][1000 genomes]
rs353894	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs353895	0.83[EUR][1000 genomes]
rs353897	0.87[EUR][1000 genomes]
rs383371	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs411828	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs428073	0.88[EUR][1000 genomes]
rs431038	0.94[EUR][1000 genomes]
rs459547	0.84[EUR][1000 genomes]
rs461801	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs464227	0.90[EUR][1000 genomes]
rs556081	0.91[EUR][1000 genomes]
rs61945179	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs708865	0.95[EUR][1000 genomes]
rs708867	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs708868	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs795476	0.83[EUR][1000 genomes]
rs811247	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv1815572	chr12:118664823-118685792	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 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	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:118637400-118684200	Weak transcription	Pancreas	Pancrea
9	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
10	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
11	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
12	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
13	chr12:118637600-118673000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:118638800-118687800	Weak transcription	Gastric	stomach
15	chr12:118639000-118672800	Weak transcription	Small Intestine	intestine
16	chr12:118639400-118674800	Weak transcription	HMEC	breast
17	chr12:118639800-118672600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:118650400-118690400	Weak transcription	Stomach Mucosa	stomach
19	chr12:118650600-118679400	Weak transcription	HUVEC	blood vessel
20	chr12:118652000-118672600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:118652000-118673000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:118652200-118672600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:118652200-118727800	Weak transcription	NHLF	lung
24	chr12:118654000-118674000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr12:118658000-118685400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:118659000-118672600	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:118659000-118672800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:118659000-118675200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:118659000-118693800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:118660600-118674800	Weak transcription	HepG2	liver
31	chr12:118663800-118672600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:118664800-118674800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:118666200-118677000	Strong transcription	Dnd41	blood
34	chr12:118666400-118673600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr12:118666400-118674200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:118666800-118672600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:118666800-118672800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:118666800-118701000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:118667000-118672600	Weak transcription	Brain Anterior Caudate	brain
40	chr12:118667000-118673800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:118667000-118674000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:118667000-118674200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:118667200-118672800	Weak transcription	GM12878-XiMat	blood
44	chr12:118667200-118674200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr12:118667200-118704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:118667400-118676600	Weak transcription	Hela-S3	cervix
47	chr12:118667800-118677600	Weak transcription	Fetal Intestine Small	intestine
48	chr12:118668000-118672800	Weak transcription	Osteobl	bone
49	chr12:118668800-118674400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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