Variant report

Variant	rs74060386
Chromosome Location	chr14:72118583-72118584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55647033	1.00[AMR][1000 genomes]
rs55843519	1.00[AMR][1000 genomes]
rs55893880	1.00[AMR][1000 genomes]
rs56135446	1.00[AMR][1000 genomes]
rs56335120	1.00[AMR][1000 genomes]
rs56861516	1.00[AMR][1000 genomes]
rs57476769	1.00[AMR][1000 genomes]
rs58376035	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58529740	1.00[AMR][1000 genomes]
rs59405734	1.00[AMR][1000 genomes]
rs60239886	1.00[AMR][1000 genomes]
rs60600157	1.00[AMR][1000 genomes]
rs74060369	1.00[AMR][1000 genomes]
rs74060373	1.00[AMR][1000 genomes]
rs74060376	1.00[AMR][1000 genomes]
rs74060385	1.00[AMR][1000 genomes]
rs74060387	1.00[AMR][1000 genomes]
rs74060390	1.00[AMR][1000 genomes]
rs74060391	1.00[AMR][1000 genomes]

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	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72073200-72137800	Weak transcription	Esophagus	oesophagus
2	chr14:72082600-72125000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr14:72083600-72128200	Weak transcription	Spleen	Spleen
4	chr14:72088200-72159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr14:72090000-72124200	Weak transcription	Hela-S3	cervix
6	chr14:72091000-72127400	Weak transcription	Pancreas	Pancrea
7	chr14:72106000-72125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:72109200-72137800	Weak transcription	Fetal Stomach	stomach
9	chr14:72109800-72150800	Weak transcription	Colonic Mucosa	Colon
10	chr14:72111200-72139000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:72112000-72128000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:72113800-72141600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:72114400-72126000	Weak transcription	Stomach Mucosa	stomach
14	chr14:72114400-72138000	Weak transcription	Gastric	stomach
15	chr14:72114600-72118600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:72115000-72133800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:72115600-72125200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:72116400-72118600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:72116400-72119200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:72116800-72118600	Strong transcription	Primary B cells from cord blood	blood
21	chr14:72116800-72118800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr14:72116800-72119000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:72117000-72118600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:72117000-72118600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:72117000-72118600	Enhancers	Brain Substantia Nigra	brain
26	chr14:72117000-72118800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr14:72117000-72118800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:72117000-72118800	Genic enhancers	HSMM	muscle
29	chr14:72117000-72118800	Enhancers	NH-A	brain
30	chr14:72117000-72118800	Genic enhancers	Osteobl	bone
31	chr14:72117000-72119200	ZNF genes & repeats	Liver	Liver
32	chr14:72117000-72120000	ZNF genes & repeats	Dnd41	blood
33	chr14:72117000-72120400	ZNF genes & repeats	GM12878-XiMat	blood
34	chr14:72117200-72118600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:72117200-72118600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:72117200-72118600	Enhancers	Brain Cingulate Gyrus	brain
37	chr14:72117200-72119000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:72117200-72119000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr14:72117200-72119000	Enhancers	NHDF-Ad	bronchial
40	chr14:72117200-72119200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr14:72117200-72119600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:72117200-72120600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr14:72117200-72120600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:72117400-72118600	Enhancers	Colon Smooth Muscle	Colon
45	chr14:72117400-72118800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:72117400-72118800	Enhancers	Brain Angular Gyrus	brain
47	chr14:72117400-72118800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr14:72117400-72120400	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr14:72117400-72123200	Weak transcription	Aorta	Aorta
50	chr14:72117400-72125000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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