Variant report

Variant	rs12100621
Chromosome Location	chr14:31133467-31133468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs57216699	1.00[AMR][1000 genomes]
rs57549139	1.00[AMR][1000 genomes]
rs57618174	1.00[AMR][1000 genomes]
rs57677010	1.00[AMR][1000 genomes]
rs60350877	1.00[AMR][1000 genomes]
rs60353606	1.00[AMR][1000 genomes]
rs60362029	1.00[AMR][1000 genomes]
rs73251132	1.00[AMR][1000 genomes]
rs73251134	1.00[AMR][1000 genomes]
rs73251145	1.00[AMR][1000 genomes]
rs73251146	1.00[AMR][1000 genomes]
rs73251151	1.00[AMR][1000 genomes]
rs73251156	1.00[AMR][1000 genomes]
rs73251167	1.00[AMR][1000 genomes]
rs73251168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251169	1.00[AMR][1000 genomes]
rs73251177	1.00[AMR][1000 genomes]
rs73251179	1.00[AMR][1000 genomes]
rs73251181	1.00[AMR][1000 genomes]
rs73251184	1.00[AMR][1000 genomes]
rs73251188	1.00[AMR][1000 genomes]
rs73255979	1.00[AMR][1000 genomes]
rs73255992	1.00[AMR][1000 genomes]
rs73258111	1.00[AMR][1000 genomes]
rs73258118	1.00[AMR][1000 genomes]
rs73258119	1.00[AMR][1000 genomes]
rs73264305	0.87[AFR][1000 genomes]
rs73264309	1.00[AMR][1000 genomes]
rs73264311	1.00[AMR][1000 genomes]
rs73264321	1.00[AMR][1000 genomes]
rs73264329	1.00[AMR][1000 genomes]
rs73264330	1.00[AMR][1000 genomes]
rs73264333	1.00[AMR][1000 genomes]
rs73264341	1.00[AMR][1000 genomes]
rs73264346	1.00[AMR][1000 genomes]
rs73264352	1.00[AMR][1000 genomes]
rs73264353	0.87[AFR][1000 genomes]
rs73264358	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264362	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
3	chr14:31096000-31167400	Weak transcription	Gastric	stomach
4	chr14:31097200-31133800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:31099600-31133800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:31099600-31134000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:31110600-31141800	Weak transcription	Stomach Mucosa	stomach
8	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
9	chr14:31114400-31134000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:31115200-31138600	Weak transcription	Fetal Heart	heart
12	chr14:31115200-31159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:31116400-31133800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:31117200-31134000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:31117600-31133600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:31117600-31133800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:31117800-31134000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:31118200-31134000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:31118400-31134000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:31118800-31134000	Strong transcription	HSMM	muscle
21	chr14:31119000-31153200	Weak transcription	Right Ventricle	heart
22	chr14:31121600-31159600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:31122400-31159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr14:31122600-31141400	Weak transcription	Psoas Muscle	Psoas
25	chr14:31122600-31152200	Weak transcription	Spleen	Spleen
26	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
27	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:31123600-31159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr14:31123600-31165400	Weak transcription	Colonic Mucosa	Colon
31	chr14:31124400-31148200	Weak transcription	Brain Substantia Nigra	brain
32	chr14:31124400-31152600	Weak transcription	Brain Hippocampus Middle	brain
33	chr14:31124400-31160200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr14:31124400-31171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr14:31125000-31159600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:31125200-31152400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:31125200-31170000	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:31125400-31152400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:31125400-31160000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr14:31125800-31133800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:31126000-31139800	Weak transcription	K562	blood
42	chr14:31126200-31133800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr14:31126200-31134000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr14:31126200-31151800	Weak transcription	NHLF	lung
45	chr14:31126400-31133600	Strong transcription	HepG2	liver
46	chr14:31126400-31142800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:31126400-31151200	Weak transcription	HMEC	breast
48	chr14:31127000-31133800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr14:31127000-31134000	Strong transcription	Liver	Liver
50	chr14:31127200-31134000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links