Variant report

Variant	rs3213570
Chromosome Location	chr12:121222411-121222412
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121219382..121222529-chr12:121225317..121227004,3	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10774572	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10849791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849807	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11065264	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065284	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065292	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065293	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065300	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs11065311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11065324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1151849	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1151862	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11608262	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11611087	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1177585	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12579868	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12580949	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs12809299	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12822123	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12824150	0.89[CEU][hapmap]
rs12825746	0.82[ASN][1000 genomes]
rs13746	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1467283	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1542859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1696357	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2015462	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2047568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2062507	0.88[CEU][hapmap]
rs2393717	0.96[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2893876	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3213566	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3213567	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3213572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34076777	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35706672	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3809313	0.84[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs3842985	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3861797	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3883901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3897746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3901854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4454799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs471688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4766979	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4766980	0.80[AMR][1000 genomes]
rs4767935	0.88[CEU][hapmap]
rs4767937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494632	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs508595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs520753	0.92[CHB][hapmap]
rs525425	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs531782	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs534415	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs572016	0.81[ASN][1000 genomes]
rs577961	0.81[ASN][1000 genomes]
rs580240	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58291418	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs590625	0.81[ASN][1000 genomes]
rs608394	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs610694	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs618482	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs624216	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs625228	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs661647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs668622	0.94[ASN][1000 genomes]
rs7137504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305849	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs869781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs909053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs989986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs989987	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3213570	ACADS	cis	Thyroid	GTEx
rs3213570	UNQ1887	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121200600-121222600	Strong transcription	Fetal Muscle Trunk	muscle
2	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
3	chr12:121207000-121223800	Weak transcription	Pancreas	Pancrea
4	chr12:121207200-121225000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:121207200-121226200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:121207200-121233000	Weak transcription	HSMMtube	muscle
7	chr12:121209200-121224200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:121209400-121236800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:121209800-121223400	Strong transcription	Fetal Thymus	thymus
10	chr12:121211400-121260800	Weak transcription	Gastric	stomach
11	chr12:121212600-121229600	Weak transcription	Right Atrium	heart
12	chr12:121212600-121229800	Weak transcription	Right Ventricle	heart
13	chr12:121212600-121236600	Weak transcription	Fetal Heart	heart
14	chr12:121212800-121228000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:121213200-121231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:121213400-121224800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:121213600-121223000	Strong transcription	Dnd41	blood
18	chr12:121215000-121222800	Strong transcription	Liver	Liver
19	chr12:121215000-121224200	Weak transcription	Brain Substantia Nigra	brain
20	chr12:121215200-121222800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:121215600-121222800	Strong transcription	Thymus	Thymus
22	chr12:121216400-121222800	Strong transcription	Fetal Intestine Large	intestine
23	chr12:121216800-121222800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:121216800-121222800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:121217000-121222800	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:121217800-121222800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:121218000-121222600	Strong transcription	GM12878-XiMat	blood
28	chr12:121218200-121222600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr12:121218200-121222800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr12:121218400-121222800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:121218600-121222600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:121218600-121222600	Strong transcription	Primary B cells from cord blood	blood
33	chr12:121218600-121222600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:121218600-121222600	Strong transcription	Brain Hippocampus Middle	brain
35	chr12:121218800-121222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:121218800-121222800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:121219200-121222800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:121219400-121222600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:121219400-121222600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:121219400-121222600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr12:121219400-121222800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:121219600-121222600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:121219600-121222600	Strong transcription	Adipose Nuclei	Adipose
44	chr12:121219600-121222600	Strong transcription	Aorta	Aorta
45	chr12:121219600-121222600	Strong transcription	Esophagus	oesophagus
46	chr12:121219600-121222800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:121219800-121222600	Strong transcription	Fetal Brain Male	brain
48	chr12:121220000-121222600	Strong transcription	Fetal Kidney	kidney
49	chr12:121220200-121222600	Strong transcription	Rectal Smooth Muscle	rectum
50	chr12:121220400-121222600	Strong transcription	Colon Smooth Muscle	Colon

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