Variant report

Variant	rs12032630
Chromosome Location	chr1:226369602-226369603
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226369476..226370326-chr1:226537932..226538450,2	K562	blood:
2	chr1:226368897..226370501-chr1:226374412..226376728,2	MCF-7	breast:
3	chr1:226361074..226366865-chr1:226367198..226369813,7	K562	blood:

Variant related genes	Relation type
ENSG00000182827	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10732276	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10799337	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10799340	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10915952	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10915953	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12047894	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2306121	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2889539	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3914142	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4653718	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4653722	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9286997	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9286998	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9659225	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9659397	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9660696	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9660874	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9660924	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9661836	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9662709	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9725308	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9725342	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9728014	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9728310	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9729232	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9729554	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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
rs12032630	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 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	chr1:226350000-226370200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:226350000-226373200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:226351000-226369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:226352200-226372800	Weak transcription	Fetal Kidney	kidney
7	chr1:226352600-226370000	Weak transcription	Fetal Brain Female	brain
8	chr1:226352600-226370400	Weak transcription	Brain Angular Gyrus	brain
9	chr1:226352600-226372200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:226352600-226372400	Weak transcription	Brain Anterior Caudate	brain
11	chr1:226352600-226372800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:226352600-226373000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:226352600-226373400	Weak transcription	Esophagus	oesophagus
14	chr1:226352800-226372000	Weak transcription	Colonic Mucosa	Colon
15	chr1:226353000-226370200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:226353000-226372000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:226353200-226372000	Weak transcription	HUVEC	blood vessel
18	chr1:226353400-226372400	Weak transcription	Brain Germinal Matrix	brain
19	chr1:226353600-226369800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:226353600-226372000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:226353800-226370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:226353800-226370400	Weak transcription	NH-A	brain
23	chr1:226353800-226372800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:226354000-226370000	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:226354000-226372400	Weak transcription	Thymus	Thymus
26	chr1:226354200-226369800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:226354200-226373000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:226358800-226373400	Weak transcription	Gastric	stomach
29	chr1:226360800-226371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:226360800-226372000	Weak transcription	Primary T cells from cord blood	blood
31	chr1:226361000-226372800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:226363800-226369800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:226364000-226372000	Weak transcription	Aorta	Aorta
34	chr1:226364000-226373800	Weak transcription	Spleen	Spleen
35	chr1:226365800-226370200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:226366400-226369800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:226366600-226369800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:226367800-226370200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:226367800-226370600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:226367800-226370800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:226367800-226370800	Enhancers	Stomach Mucosa	stomach
42	chr1:226367800-226372000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:226368000-226370400	Strong transcription	Fetal Thymus	thymus
44	chr1:226368000-226370600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr1:226368200-226370800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr1:226368200-226371400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr1:226368200-226373000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr1:226368600-226370800	Genic enhancers	Dnd41	blood
49	chr1:226368600-226372800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:226368800-226370000	Enhancers	Primary B cells from cord blood	blood

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