Variant report

Variant	rs15040
Chromosome Location	chr12:106632565-106632566
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106630484..106633329-chr12:106636143..106637779,2	K562	blood:
2	chr12:106620940..106625050-chr12:106630217..106634289,4	MCF-7	breast:
3	chr12:106630802..106633610-chr12:106666760..106669656,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUAK1-5	chr12:106631814-106632649	NONHSAT030470

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11834258	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315345	1.00[MEX][hapmap]
rs12426351	0.84[ASW][hapmap]
rs17038293	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7132695	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs753924	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830730	chr12:106621530-106642222	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1839947	chr12:106622186-106642064	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1797996	chr12:106622186-106642222	Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106621200-106632600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:106621400-106632600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:106621400-106638200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:106621600-106632600	Weak transcription	Colonic Mucosa	Colon
5	chr12:106621600-106632800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:106621800-106632800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:106622200-106639000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:106622200-106639600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:106622400-106632800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:106624400-106633000	Weak transcription	Aorta	Aorta
11	chr12:106625200-106632600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:106625200-106636800	Weak transcription	Right Atrium	heart
13	chr12:106625200-106640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:106625400-106632600	Weak transcription	Right Ventricle	heart
15	chr12:106625400-106632600	Weak transcription	HepG2	liver
16	chr12:106625600-106632600	Weak transcription	Brain Substantia Nigra	brain
17	chr12:106627000-106633000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:106627600-106632600	Weak transcription	Brain Angular Gyrus	brain
19	chr12:106627600-106634400	Strong transcription	Fetal Brain Female	brain
20	chr12:106628200-106632600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:106628600-106632600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:106628600-106638600	Weak transcription	Fetal Brain Male	brain
23	chr12:106628800-106637000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:106629000-106632800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:106629000-106634400	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr12:106629000-106638400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr12:106629200-106632800	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:106629200-106636200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:106629200-106636600	Strong transcription	Osteobl	bone
30	chr12:106629200-106636800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:106629200-106637600	Strong transcription	Fetal Stomach	stomach
32	chr12:106629400-106637000	Strong transcription	NHDF-Ad	bronchial
33	chr12:106629400-106639000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:106629600-106632600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:106629600-106634200	Strong transcription	Fetal Muscle Leg	muscle
36	chr12:106629600-106634600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:106629800-106635800	Weak transcription	Fetal Kidney	kidney
38	chr12:106630000-106633600	Weak transcription	Stomach Mucosa	stomach
39	chr12:106630000-106636800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr12:106630200-106634200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr12:106630200-106635200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:106630200-106638600	Weak transcription	Hela-S3	cervix
43	chr12:106630200-106638600	Strong transcription	NHLF	lung
44	chr12:106630400-106632600	Strong transcription	NH-A	brain
45	chr12:106630400-106634000	Strong transcription	Fetal Lung	lung
46	chr12:106630400-106634200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:106630400-106634200	Strong transcription	Fetal Intestine Small	intestine
48	chr12:106630400-106634400	Strong transcription	Esophagus	oesophagus
49	chr12:106630400-106636400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:106630400-106637200	Strong transcription	Primary monocytes fromperipheralblood	blood

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