Variant report

Variant	rs12076062
Chromosome Location	chr1:226371085-226371086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226370401..226372678-chr1:226386558..226389144,3	K562	blood:
2	chr1:226313378..226317234-chr1:226370614..226375969,8	MCF-7	breast:
3	chr1:226343198..226345651-chr1:226370784..226374218,4	K562	blood:
4	chr1:226251126..226252830-chr1:226370586..226372718,2	K562	blood:

Variant related genes	Relation type
ENSG00000270598	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10495244	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10915951	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10915955	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12033959	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087091	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16860230	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3008193	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61836880	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9661265	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9729045	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9988629	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12076062	ACBD3	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:226349000-226373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:226350000-226373200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:226352200-226372800	Weak transcription	Fetal Kidney	kidney
5	chr1:226352600-226372200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:226352600-226372400	Weak transcription	Brain Anterior Caudate	brain
7	chr1:226352600-226372800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:226352600-226373000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:226352600-226373400	Weak transcription	Esophagus	oesophagus
10	chr1:226352800-226372000	Weak transcription	Colonic Mucosa	Colon
11	chr1:226353000-226372000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:226353200-226372000	Weak transcription	HUVEC	blood vessel
13	chr1:226353400-226372400	Weak transcription	Brain Germinal Matrix	brain
14	chr1:226353600-226372000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:226353800-226372800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:226354000-226372400	Weak transcription	Thymus	Thymus
17	chr1:226354200-226373000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:226358800-226373400	Weak transcription	Gastric	stomach
19	chr1:226360800-226371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:226360800-226372000	Weak transcription	Primary T cells from cord blood	blood
21	chr1:226361000-226372800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:226364000-226372000	Weak transcription	Aorta	Aorta
23	chr1:226364000-226373800	Weak transcription	Spleen	Spleen
24	chr1:226367800-226372000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:226368200-226371400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:226368200-226373000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr1:226368600-226372800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:226368800-226371200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr1:226368800-226372800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:226369200-226371400	Genic enhancers	Fetal Intestine Small	intestine
31	chr1:226369200-226372600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:226369200-226372800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:226369400-226371400	Enhancers	HSMMtube	muscle
34	chr1:226369400-226372000	Weak transcription	Brain Substantia Nigra	brain
35	chr1:226369400-226372200	Genic enhancers	Osteobl	bone
36	chr1:226369600-226371200	Enhancers	Fetal Muscle Leg	muscle
37	chr1:226369600-226371400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:226369600-226372000	Enhancers	Placenta	Placenta
39	chr1:226369600-226372000	Enhancers	Small Intestine	intestine
40	chr1:226369600-226373400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr1:226369800-226372800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:226369800-226373200	Enhancers	Primary B cells from peripheral blood	blood
43	chr1:226370000-226372400	Strong transcription	Fetal Lung	lung
44	chr1:226370200-226371600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr1:226370200-226372800	Weak transcription	Fetal Brain Male	brain
46	chr1:226370200-226373000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:226370400-226371200	Enhancers	Adipose Nuclei	Adipose
48	chr1:226370400-226372000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:226370400-226372000	Weak transcription	Ovary	ovary
50	chr1:226370400-226372200	Weak transcription	Primary hematopoietic stem cells	blood

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