Variant report

Variant	rs56818943
Chromosome Location	chr12:118697810-118697811
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118697555..118699270-chr12:118703351..118704934,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10507287	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12311160	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12315982	0.88[ASN][1000 genomes]
rs2062521	0.83[ASN][1000 genomes]
rs56097381	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56722992	1.00[AFR][1000 genomes]
rs57261188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58290632	1.00[AFR][1000 genomes]
rs58884645	0.85[ASN][1000 genomes]
rs59485640	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61388284	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7134670	0.85[ASN][1000 genomes]
rs7137548	0.83[ASN][1000 genomes]
rs7313514	0.83[ASN][1000 genomes]
rs7967474	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7974361	0.85[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	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
4	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
5	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
6	chr12:118652200-118727800	Weak transcription	NHLF	lung
7	chr12:118666800-118701000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:118667200-118704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:118669000-118725200	Weak transcription	K562	blood
11	chr12:118671200-118701800	Weak transcription	Right Ventricle	heart
12	chr12:118673200-118698800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:118673200-118701600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:118673400-118705400	Weak transcription	Colonic Mucosa	Colon
15	chr12:118673400-118710400	Weak transcription	Placenta	Placenta
16	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:118673600-118712000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:118673800-118703000	Weak transcription	Thymus	Thymus
19	chr12:118673800-118709200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:118674000-118700800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:118674000-118706200	Weak transcription	Left Ventricle	heart
23	chr12:118674000-118726200	Weak transcription	Lung	lung
24	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:118676200-118707400	Weak transcription	HSMM	muscle
26	chr12:118676400-118705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:118676400-118718400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:118676800-118720400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:118677000-118708000	Weak transcription	NHEK	skin
30	chr12:118677000-118708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:118677000-118739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:118682400-118699200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:118683200-118699600	Weak transcription	Fetal Intestine Small	intestine
34	chr12:118683400-118699200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:118683400-118739800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:118685600-118699400	Weak transcription	Ovary	ovary
37	chr12:118691000-118702800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:118692400-118728000	Weak transcription	Adipose Nuclei	Adipose
39	chr12:118693400-118698800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:118693400-118698800	Weak transcription	Fetal Intestine Large	intestine
41	chr12:118693400-118698800	Weak transcription	Fetal Stomach	stomach
42	chr12:118693400-118725600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:118693400-118745000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:118693600-118698800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:118693600-118702000	Weak transcription	Liver	Liver
46	chr12:118693600-118712000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:118693600-118728200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:118694200-118698800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:118694200-118699000	Weak transcription	Osteobl	bone
50	chr12:118694200-118702200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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