Variant report

Variant	rs1467283
Chromosome Location	chr12:121210220-121210221
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121205065..121207154-chr12:121208257..121210269,2	K562	blood:
2	chr12:121198595..121200409-chr12:121209397..121212163,2	MCF-7	breast:
3	chr12:121208540..121211022-chr12:121211135..121213895,3	K562	blood:
4	chr12:121203090..121205836-chr12:121209356..121211928,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction
ENSG00000255946	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10849791	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065264	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065282	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065283	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065284	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065292	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065293	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065300	0.80[AMR][1000 genomes]
rs11608262	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11611087	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12579868	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580949	0.81[AMR][1000 genomes]
rs12809299	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12825746	0.80[ASN][1000 genomes]
rs13746	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2015462	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2047568	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2393717	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2893876	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3213566	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3213567	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3213570	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3213572	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34076777	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35706672	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3842985	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3861797	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3883901	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3901854	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4766979	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4766980	0.80[AMR][1000 genomes]
rs4767937	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs494632	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs508595	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs525425	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs534415	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs580240	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58291418	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs608394	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs618482	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs668622	0.95[ASN][1000 genomes]
rs7137504	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7305849	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs909053	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9431	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs989986	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs989987	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv976761	chr12:121202272-121210985	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1467283	ACADS	cis	Thyroid	GTEx
rs1467283	UNQ1887	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121196800-121212800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:121197400-121212600	Strong transcription	Thymus	Thymus
3	chr12:121197400-121220000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:121197600-121210400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:121197800-121212400	Strong transcription	Liver	Liver
6	chr12:121197800-121220400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:121198000-121212000	Strong transcription	Adipose Nuclei	Adipose
8	chr12:121198200-121211400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:121198400-121212200	Strong transcription	Primary B cells from cord blood	blood
10	chr12:121198400-121220800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:121199000-121211600	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr12:121199800-121211400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:121199800-121211800	Weak transcription	Right Atrium	heart
14	chr12:121200200-121213000	Strong transcription	Fetal Stomach	stomach
15	chr12:121200600-121211200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:121200600-121222600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr12:121201000-121211800	Weak transcription	Fetal Heart	heart
18	chr12:121201000-121212000	Strong transcription	Fetal Muscle Leg	muscle
19	chr12:121201000-121212600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:121201200-121217600	Strong transcription	Primary T cells from cord blood	blood
21	chr12:121204400-121220200	Weak transcription	NHDF-Ad	bronchial
22	chr12:121204800-121211800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:121204800-121212000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:121204800-121213800	Strong transcription	Fetal Intestine Large	intestine
25	chr12:121205200-121221000	Weak transcription	Stomach Mucosa	stomach
26	chr12:121205600-121211200	Weak transcription	Psoas Muscle	Psoas
27	chr12:121205600-121212600	Strong transcription	Placenta	Placenta
28	chr12:121205600-121213800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr12:121206000-121219400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
31	chr12:121206400-121211800	Weak transcription	HUVEC	blood vessel
32	chr12:121206400-121213400	Strong transcription	Fetal Intestine Small	intestine
33	chr12:121206600-121219800	Weak transcription	Fetal Brain Male	brain
34	chr12:121206600-121220400	Weak transcription	NH-A	brain
35	chr12:121206600-121220600	Weak transcription	NHLF	lung
36	chr12:121206800-121211600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:121206800-121218600	Weak transcription	A549	lung
38	chr12:121206800-121218800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:121206800-121219400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:121206800-121219400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:121206800-121220000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:121206800-121220600	Weak transcription	Hela-S3	cervix
43	chr12:121207000-121210800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:121207000-121210800	Weak transcription	Fetal Brain Female	brain
45	chr12:121207000-121211200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:121207000-121211400	Weak transcription	Left Ventricle	heart
47	chr12:121207000-121211800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:121207000-121212200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:121207000-121213600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:121207000-121214000	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links