Variant report

Variant	rs8012820
Chromosome Location	chr14:39521959-39521960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39518100..39520463-chr14:39520996..39523566,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10140341	0.83[AFR][1000 genomes]
rs28502115	0.84[AFR][1000 genomes]
rs28810420	0.86[AFR][1000 genomes]
rs35224434	0.82[AFR][1000 genomes]
rs35423721	0.86[AFR][1000 genomes]
rs56895099	0.92[AFR][1000 genomes]
rs6571892	1.00[AFR][1000 genomes]
rs6571893	0.86[AFR][1000 genomes]
rs73285796	1.00[AFR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39498000-39524200	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:39498200-39524200	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:39498200-39524400	Strong transcription	Fetal Intestine Large	intestine
4	chr14:39498400-39524800	Weak transcription	K562	blood
5	chr14:39498600-39524000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:39498600-39524800	Strong transcription	Adipose Nuclei	Adipose
7	chr14:39499000-39523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:39499000-39523600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr14:39499000-39524200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:39499000-39524800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:39499000-39524800	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:39499000-39525000	Strong transcription	Liver	Liver
13	chr14:39499600-39524600	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr14:39500000-39522800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:39500000-39524400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr14:39500000-39524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:39500000-39525000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:39500200-39523000	Weak transcription	Spleen	Spleen
19	chr14:39501400-39524800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:39502600-39524200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:39504200-39524000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:39504800-39523000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:39506200-39524800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:39508000-39524400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:39508200-39523000	Weak transcription	Psoas Muscle	Psoas
26	chr14:39508400-39523400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:39510000-39523000	Weak transcription	Brain Angular Gyrus	brain
28	chr14:39510000-39524200	Weak transcription	Fetal Brain Male	brain
29	chr14:39510000-39524400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:39511000-39524000	Strong transcription	HSMMtube	muscle
31	chr14:39511000-39524600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:39511000-39524600	Strong transcription	Placenta	Placenta
33	chr14:39511200-39524200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:39511200-39524800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr14:39511200-39525000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr14:39511400-39524200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr14:39512600-39523000	Strong transcription	Dnd41	blood
38	chr14:39512600-39524400	Strong transcription	Fetal Thymus	thymus
39	chr14:39512600-39525000	Strong transcription	Fetal Lung	lung
40	chr14:39513600-39525000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:39514000-39524200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:39514800-39524200	Strong transcription	Primary T cells from cord blood	blood
43	chr14:39514800-39524400	Strong transcription	Fetal Muscle Leg	muscle
44	chr14:39514800-39524800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr14:39514800-39525000	Strong transcription	Left Ventricle	heart
46	chr14:39515200-39524200	Strong transcription	Primary B cells from cord blood	blood
47	chr14:39515200-39524400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:39515200-39525000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr14:39516000-39525000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr14:39516600-39524800	Weak transcription	NHEK	skin

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