Variant report

Variant	rs60001274
Chromosome Location	chr12:48469193-48469194
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48468414..48470929-chr12:48522430..48524635,2	K562	blood:
2	chr12:48459266..48462435-chr12:48465980..48469483,3	K562	blood:
3	chr12:48468062..48470836-chr12:48471643..48474168,2	K562	blood:

Variant related genes	Relation type
ENSG00000079387	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11833896	0.83[AFR][1000 genomes]
rs35902603	0.83[AFR][1000 genomes]
rs57783574	0.83[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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48432200-48498400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:48435200-48476200	Weak transcription	Stomach Mucosa	stomach
3	chr12:48437200-48489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:48441400-48482600	Weak transcription	Small Intestine	intestine
5	chr12:48443000-48478800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:48444200-48474600	Weak transcription	Gastric	stomach
7	chr12:48452000-48469400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:48452200-48469600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:48452200-48470000	Strong transcription	Placenta	Placenta
10	chr12:48452400-48469600	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:48453000-48469200	Weak transcription	Fetal Heart	heart
12	chr12:48453000-48498200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:48453200-48469200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr12:48453600-48469800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:48453600-48471200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:48453800-48469400	Strong transcription	A549	lung
17	chr12:48453800-48474800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:48454000-48494000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:48454600-48478800	Weak transcription	Pancreas	Pancrea
20	chr12:48454800-48472000	Strong transcription	Dnd41	blood
21	chr12:48456200-48469600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:48457400-48482000	Weak transcription	Right Ventricle	heart
23	chr12:48457600-48478600	Weak transcription	HSMMtube	muscle
24	chr12:48459200-48479000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:48460800-48469800	Strong transcription	Primary T cells from cord blood	blood
26	chr12:48463000-48469400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:48463000-48469600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr12:48463000-48469800	Strong transcription	Primary B cells from cord blood	blood
29	chr12:48463600-48476200	Weak transcription	HUVEC	blood vessel
30	chr12:48464400-48476200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:48464600-48472600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:48464600-48489400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:48464800-48476000	Weak transcription	Fetal Brain Male	brain
34	chr12:48464800-48482400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:48465000-48474000	Weak transcription	Lung	lung
36	chr12:48465000-48474600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:48465000-48477000	Weak transcription	Brain Angular Gyrus	brain
38	chr12:48465000-48478800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:48465000-48478800	Weak transcription	Aorta	Aorta
40	chr12:48465000-48487400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:48465800-48476800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:48466200-48481400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:48466400-48472600	Weak transcription	Ovary	ovary
44	chr12:48466800-48470000	Weak transcription	Left Ventricle	heart
45	chr12:48466800-48472600	Weak transcription	Fetal Intestine Small	intestine
46	chr12:48466800-48472600	Weak transcription	Fetal Stomach	stomach
47	chr12:48466800-48478800	Weak transcription	Esophagus	oesophagus
48	chr12:48467200-48469600	Strong transcription	K562	blood
49	chr12:48468000-48469400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:48468200-48472400	Weak transcription	NHLF	lung

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