Variant report

Variant	rs12305850
Chromosome Location	chr12:56345288-56345289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56345180-56345292	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56330972..56338064-chr12:56344899..56352450,13	MCF-7	breast:
2	chr12:56120505..56122635-chr12:56345271..56347933,2	K562	blood:
3	chr12:56343431..56347236-chr12:56348315..56351520,6	MCF-7	breast:
4	chr12:56326916..56329478-chr12:56343960..56346178,2	MCF-7	breast:

Variant related genes	Relation type
DGKA	TF binding region
ENSG00000065357	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000185664	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12300205	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17118141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56328800-56352200	Weak transcription	Small Intestine	intestine
2	chr12:56334000-56349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:56334200-56345400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:56334200-56349800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:56334400-56345400	Weak transcription	Liver	Liver
6	chr12:56334400-56347400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:56334400-56348400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:56334400-56349400	Strong transcription	Thymus	Thymus
9	chr12:56334600-56345600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:56334600-56345600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:56334600-56345800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:56334600-56345800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:56334600-56345800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:56334600-56346000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:56334600-56346400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:56334600-56346600	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:56334600-56347400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:56334600-56348000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:56334600-56348400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:56334600-56349000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:56334600-56349000	Weak transcription	Brain Substantia Nigra	brain
22	chr12:56334600-56349000	Strong transcription	NHEK	skin
23	chr12:56334600-56349400	Strong transcription	Dnd41	blood
24	chr12:56334600-56349800	Weak transcription	Stomach Mucosa	stomach
25	chr12:56335000-56348400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:56335000-56349400	Weak transcription	Fetal Brain Male	brain
27	chr12:56335400-56350000	Strong transcription	Fetal Thymus	thymus
28	chr12:56336400-56349200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:56336800-56349000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:56336800-56350000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:56336800-56350400	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:56336800-56351600	Strong transcription	Primary T cells from cord blood	blood
33	chr12:56338000-56345400	Weak transcription	NHDF-Ad	bronchial
34	chr12:56338400-56349400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:56338800-56346400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:56339200-56349200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:56339400-56347800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:56341400-56348200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:56341600-56345800	Weak transcription	GM12878-XiMat	blood
40	chr12:56341600-56349400	Strong transcription	Fetal Stomach	stomach
41	chr12:56342000-56346000	Weak transcription	Fetal Brain Female	brain
42	chr12:56343600-56350000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:56344400-56348200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:56344600-56348400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr12:56344600-56349000	Strong transcription	HMEC	breast
46	chr12:56344600-56349200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:56344800-56345400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:56344800-56345800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr12:56344800-56347200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:56344800-56348200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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