Variant report

Variant	rs16948224
Chromosome Location	chr12:118704704-118704705
allele	C/G
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: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10507286	0.87[YRI][hapmap]
rs10507288	1.00[YRI][hapmap]
rs16948168	0.86[YRI][hapmap]
rs16948173	0.86[YRI][hapmap]
rs16948193	0.93[YRI][hapmap]
rs16948197	0.87[YRI][hapmap]
rs16948199	1.00[YRI][hapmap]
rs16948204	0.93[YRI][hapmap]
rs16948225	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs16948230	0.93[YRI][hapmap]
rs16948234	0.93[YRI][hapmap]
rs16948241	1.00[YRI][hapmap]
rs16948258	1.00[YRI][hapmap]
rs17433259	1.00[YRI][hapmap]
rs57170485	0.84[AFR][1000 genomes]
rs7303417	0.93[YRI][hapmap]
rs7962185	0.93[YRI][hapmap]
rs7963735	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs7963880	1.00[YRI][hapmap]
rs7965350	0.93[YRI][hapmap]

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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
2	chr12:118652200-118727800	Weak transcription	NHLF	lung
3	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:118669000-118725200	Weak transcription	K562	blood
5	chr12:118673400-118705400	Weak transcription	Colonic Mucosa	Colon
6	chr12:118673400-118710400	Weak transcription	Placenta	Placenta
7	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:118673600-118712000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:118673800-118709200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:118674000-118706200	Weak transcription	Left Ventricle	heart
12	chr12:118674000-118726200	Weak transcription	Lung	lung
13	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:118676200-118707400	Weak transcription	HSMM	muscle
15	chr12:118676400-118705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:118676400-118718400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:118676800-118720400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:118677000-118708000	Weak transcription	NHEK	skin
19	chr12:118677000-118708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:118677000-118739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:118683400-118739800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:118692400-118728000	Weak transcription	Adipose Nuclei	Adipose
23	chr12:118693400-118725600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:118693400-118745000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:118693600-118712000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:118693600-118728200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:118694600-118705600	Weak transcription	Fetal Lung	lung
28	chr12:118694600-118707600	Weak transcription	Brain Anterior Caudate	brain
29	chr12:118694600-118739800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:118694800-118719800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:118695000-118705000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:118697000-118705000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:118697400-118704800	Weak transcription	Small Intestine	intestine
34	chr12:118697600-118723600	Weak transcription	Pancreas	Pancrea
35	chr12:118698200-118705000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:118698400-118705000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:118699200-118737600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:118699600-118706800	Weak transcription	Osteobl	bone
39	chr12:118699600-118712000	Weak transcription	GM12878-XiMat	blood
40	chr12:118699800-118727800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:118699800-118733800	Weak transcription	Fetal Stomach	stomach
42	chr12:118699800-118736000	Weak transcription	Fetal Intestine Small	intestine
43	chr12:118700200-118737200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:118700400-118708000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:118700400-118738000	Weak transcription	Fetal Intestine Large	intestine
46	chr12:118700600-118719000	Weak transcription	HSMMtube	muscle
47	chr12:118700800-118709600	Weak transcription	Hela-S3	cervix
48	chr12:118701800-118705000	Strong transcription	Primary B cells from cord blood	blood
49	chr12:118702400-118710600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:118702600-118709600	Weak transcription	A549	lung

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